A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)
Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, WOLVES; FOXES; and other Canidae for which the heading CARNIVORA is used.

Mutations of the cathepsin C gene are responsible for Papillon-Lefevre syndrome. (1/35)

Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar hyperkeratosis and severe early onset periodontitis that results in the premature loss of the primary and secondary dentitions. A major gene locus for PLS has been mapped to a 2.8 cM interval on chromosome 11q14. Correlation of physical and genetic maps of this interval indicate it includes at least 40 ESTs and six known genes including the lysosomal protease cathepsin C gene (CTSC). The CTSC message is expressed at high levels in a variety of immune cells including polymorphonuclear leucocytes, macrophages, and their precursors. By RT-PCR, we found CTSC is also expressed in epithelial regions commonly affected by PLS, including the palms, soles, knees, and oral keratinised gingiva. The 4.7 kb CTSC gene consists of two exons. Sequence analysis of CTSC from subjects affected with PLS from five consanguineous Turkish families identified four different mutations. An exon 1 nonsense mutation (856C-->T) introduces a premature stop codon at amino acid 286. Three exon 2 mutations were identified, including a single nucleotide deletion (2692delA) of codon 349 introducing a frameshift and premature termination codon, a 2 bp deletion (2673-2674delCT) that results in introduction of a stop codon at amino acid 343, and a G-->A substitution in codon 429 (2931G-->A) introducing a premature termination codon. All PLS patients were homozygous for cathepsin C mutations inherited from a common ancestor. Parents and sibs heterozygous for cathepsin C mutations do not show either the palmoplantar hyperkeratosis or severe early onset periodontitis characteristic of PLS. A more complete understanding of the functional physiology of cathepsin C carries significant implications for understanding normal and abnormal skin development and periodontal disease susceptibility.  (+info)

Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C. (2/35)

Of the many palmoplantar keratoderma (PPK) conditions, only Papillon-Lefevre syndrome (PLS) and Haim-Munk syndrome (HMS) are associated with premature periodontal destruction. Although both PLS and HMS share the cardinal features of PPK and severe periodontitis, a number of additional findings are reported in HMS including arachnodactyly, acro-osteolysis, atrophic changes of the nails, and a radiographic deformity of the fingers. While PLS cases have been identified throughout the world, HMS has only been described among descendants of a religious isolate originally from Cochin, India. Parental consanguinity is a characteristic of many cases of both conditions. Although autosomal recessive transmission of PLS is evident, a more "complex" autosomal recessive pattern of inheritance with phenotypic influences from a closely linked modifying locus has been hypothesised for HMS. Recently, mutations of the cathepsin C gene have been identified as the underlying genetic defect in PLS. To determine if a cathepsin C mutation is also responsible for HMS, we sequenced the gene in affected and unaffected subjects from the Cochin isolate in which both the PLS and HMS phenotypes appear. Here we report identification of a mutation of cathepsin C (exon 6, 2127A--> G) that changes a highly conserved amino acid in the cathepsin C peptide. This mutation segregates with HMS in four nuclear families. Additionally, the existence of a shared common haplotype for genetic loci flanking the cathepsin C gene suggests that affected subjects descended from the Cochin isolate are homozygous for a mutation inherited "identical by descent" from a common ancestor. This finding supports simple autosomal recessive inheritance for HMS in these families. We also report a mutation of the same exon 6 CTSC codon (2126C-->T) in a Turkish family with classical PLS. These findings provide evidence that PLS and HMS are allelic variants of cathepsin C gene mutations.  (+info)

Identification of cathepsin C mutations in ethnically diverse papillon-Lefevre syndrome patients. (3/35)

INTRODUCTION: Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar keratoderma and severe, early onset periodontitis, which results from deficiency of cathepsin C activity secondary to mutations in the cathepsin C gene. To date, 13 different cathepsin C mutations have been reported in PLS patients, all of which are homozygous for a given mutation, reflecting consanguinity. AIM: To evaluate the generality of cathepsin C mutations in PLS, we studied an ethnically diverse group of 20 unrelated families. METHODS: Mutations were identified by direct automated sequencing of genomic DNA amplified for exonic regions and associated splice site junctions of the cathepsin C gene. Long range PCR was performed to determine the genomic structure of the cathepsin C gene. RESULTS: The cathepsin C gene spans over 46 kb, with six introns ranging in size from 1.6 to 22.4 kb. Eleven novel mutations and four previously reported mutations were identified in affected subjects from 14 families. Missense mutations were most common (9/15), followed by nonsense mutations (3/15), insertions (2/15), and deletions (1/15). Among these 14 probands, two were compound heterozygotes. Affected subjects with transgressions of the dermal lesions onto the knees or elbows or both had mutations in both the pro- and mature regions of the enzyme, although most were in the mature region. CONCLUSION: Mutations in the mature region of cathepsin C were more likely to be associated with the transgressions of the dermatological lesions, although the results were not statistically significant. A comprehensive list of all cathepsin C mutations described to date, representing 25 mutations from 32 families with PLS and related conditions, is also presented.  (+info)

Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefevre syndrome patients. (4/35)

We describe a mutation and haplotype analysis of Papillon-Lefevre syndrome probands that provides evidence of a founder effect for four separate cathepsin C mutations. A total of 25 different cathepsin C mutations have been reported in 32 families with Papillon-Lefevre syndrome (PLS) and associated conditions. A characteristic of these findings is the diversity of different cathepsin C mutations that have been identified. To evaluate the generality of cathepsin C mutations, PLS probands representative of five reportedly unrelated Saudi Arabian families were evaluated by mutational and haplotype analyses. Sequence analysis identified two cathepsin C gene mutations: a novel exon 7 G300D mutation was found in the proband from one family, while probands from four families shared a common R272P mutation in exon 6. The R272P mutation has been previously reported in two other non-Saudi families. The presence of the R272P mutation in probands from these four Saudi families makes this the most frequently reported cathepsin C mutation. To distinguish between the presence of a possible founder effect or a mutational hot spot for the R272P mutation, we performed haplotype analysis using six novel DNA polymorphisms that span a 165 kb interval containing the cathepsin C gene. Results of haplotype analysis for genetic polymorphisms within and flanking the cathepsin C gene are consistent with inheritance of the R272P mutation "identical by descent" from a common ancestor in these four Saudi families. Haplotype analysis of multiple PLS probands homozygous for other cathepsin C mutations (W249X, Q286X, and T153I) also supports inheritance of each of these mutations from common ancestors. These data suggest that four of the more frequently reported cathepsin C mutations have been inherited from common ancestors and provide the first direct evidence for a founder effect for cathepsin C gene mutations in PLS. Identification of these six short tandem repeat polymorphisms that span the cathepsin C gene will permit haplotype analyses to determine other founder haplotypes of cathepsin C mutations in additional PLS families.  (+info)

Papillon-Lefevre syndrome: mutations and polymorphisms in the cathepsin C gene. (5/35)

The Papillon-Lefevre syndrome, inherited in an autosomal recessive pattern, manifests with palmoplantar keratoderma and early, destructive periodontitis. Recently, mutations in the gene encoding cathepsin C have been disclosed in a limited number of families with Papillon-Lefevre syndrome. We have examined two multiplex families with Papillon-Lefevre syndrome, and evaluated the gene encoding cathepsin C for mutations. The mutation detection strategy consisted of polymerase chain reaction amplification of all seven exons and flanking intronic sequences, followed by direct nucleotide sequencing. This strategy identified two missense mutations, W39S and G301S, affecting highly conserved amino acid residues within the cathepsin C polypeptide. The affected individuals were homozygotes whereas heterozygous carriers of the mutations were clinically unaffected, confirming the recessive nature of the mutations. Addition of these cathepsin C gene mutations into the expanding Papillon-Lefevre syndrome mutation database allows further development of genotype/phenotype correlations towards understanding this severe genodermatosis.  (+info)

A microbiological study of Papillon-Lefevre syndrome in two patients. (6/35)

AIM: To analyse the microflora of subgingival plaque from patients with Papillon-Lefevre syndrome (PLS), which is a very rare disease characterised by palmar-plantar hyperkeratosis with precocious periodontal destruction. METHODS: Bacterial isolates were identified using a combination of commercial identification kits, traditional laboratory tests, and gas liquid chromatography. Some isolates were also subjected to partial 16S rDNA sequencing. Plaque samples were also assayed for the presence of Porphyromonas gingivalis, Prevotella intermedia, and Actinobacillus actinomycetemcomitans in a quantitative enzyme linked immunosorbent assay (ELISA) using monoclonal antibodies. RESULTS: The culture results showed that most isolates were capnophilic and facultatively anaerobic species-mainly Capnocytophaga spp and Streptococcus spp. The latter included S. constellatus, S. oralis, and S. sanguis. Other facultative bacteria belonged to the genera gemella, kingella, leuconostoc, and stomatococcus. The aerobic bacteria isolated were species of neisseria and bacillus. Anaerobic species included Prevotella intermedia, P. melaninogenica, and P. nigrescens, as well as Peptostreptococcus spp. ELISA detected P gingivalis in one patient in all sites sampled, whereas A. actinomycetemcomitans was detected in only one site from the other patient. Prevotella intermedia was present in low numbers. CONCLUSIONS: Patients with PLS have a very complex subgingival flora including recognised periodontal pathogens. However, no particular periodontopathogen is invariably associated with PLS.  (+info)

Structure of human dipeptidyl peptidase I (cathepsin C): exclusion domain added to an endopeptidase framework creates the machine for activation of granular serine proteases. (7/35)

Dipeptidyl peptidase I (DPPI) or cathepsin C is the physiological activator of groups of serine proteases from immune and inflammatory cells vital for defense of an organism. The structure presented shows how an additional domain transforms the framework of a papain-like endopeptidase into a robust oligomeric protease-processing enzyme. The tetrahedral arrangement of the active sites exposed to solvent allows approach of proteins in their native state; the massive body of the exclusion domain fastened within the tetrahedral framework excludes approach of a polypeptide chain apart from its termini; and the carboxylic group of Asp1 positions the N-terminal amino group of the substrate. Based on a structural comparison and interactions within the active site cleft, it is suggested that the exclusion domain originates from a metallo-protease inhibitor. The location of missense mutations, characterized in people suffering from Haim-Munk and Papillon-Lefevre syndromes, suggests how they disrupt the fold and function of the enzyme.  (+info)

Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefevre syndrome. (8/35)

Papillon-Lefevre syndrome is an autosomal recessive disorder characterized by palmoplantar keratoderma, periodontitis, and premature loss of dentition. Mutations in the CTSC gene that encodes cathepsin C have been described in families affected with Papillon--Lefevre syndrome. Cathepsin C is the least understood of the lysosomal cysteine proteases; it has been reported to participate in both intracellular and extracellular cleavage of proteins and activation of serine proteases in immune and inflammatory cells. We report here eight new mutations in Papillon-Lefevre syndrome families: four deletions and four point mutations, including a missense mutation in the propeptide chain that could help elucidate structure-function relationships in this protein. We also found that the 458C > T mutation, first reported in two families by Hart et al (2000c), was a neutral polymorphism in our families, as suggested by Allende et al (Cathepsin C gene: first compound heterozygous patient with Papillon--Lefevre syndrome and novel symptomless mutation. Hum Mutat 17:152-153, 2001).  (+info)

Neuroaxonal dystrophies (NADs) are a group of inherited neurological disorders characterized by degeneration of the neuronal axons, which are the long extensions of nerve cells that transmit impulses to other cells. This degeneration leads to progressive loss of motor and cognitive functions.

The term "neuroaxonal dystrophy" refers to a specific pattern of abnormalities seen on electron microscopy in nerve cells, including accumulation of membranous structures called "spheroids" or "tubulovesicular structures" within the axons.

NADs can be caused by mutations in various genes that play a role in maintaining the structure and function of neuronal axons. The most common forms of NADs include Infantile Neuroaxonal Dystrophy (INAD) or Seitelberger's Disease, and Late-Onset Neuroaxonal Dystrophy (LONAD).

Symptoms of INAD typically begin between ages 6 months and 2 years, and may include muscle weakness, hypotonia, decreased reflexes, vision loss, hearing impairment, and developmental delay. LONAD usually presents in childhood or adolescence with symptoms such as ataxia, dysarthria, cognitive decline, and behavioral changes.

Currently, there is no cure for NADs, and treatment is focused on managing symptoms and improving quality of life.

There is no medical definition for "dog diseases" as it is too broad a term. However, dogs can suffer from various health conditions and illnesses that are specific to their species or similar to those found in humans. Some common categories of dog diseases include:

1. Infectious Diseases: These are caused by viruses, bacteria, fungi, or parasites. Examples include distemper, parvovirus, kennel cough, Lyme disease, and heartworms.
2. Hereditary/Genetic Disorders: Some dogs may inherit certain genetic disorders from their parents. Examples include hip dysplasia, elbow dysplasia, progressive retinal atrophy (PRA), and degenerative myelopathy.
3. Age-Related Diseases: As dogs age, they become more susceptible to various health issues. Common age-related diseases in dogs include arthritis, dental disease, cancer, and cognitive dysfunction syndrome (CDS).
4. Nutritional Disorders: Malnutrition or improper feeding can lead to various health problems in dogs. Examples include obesity, malnutrition, and vitamin deficiencies.
5. Environmental Diseases: These are caused by exposure to environmental factors such as toxins, allergens, or extreme temperatures. Examples include heatstroke, frostbite, and toxicities from ingesting harmful substances.
6. Neurological Disorders: Dogs can suffer from various neurological conditions that affect their nervous system. Examples include epilepsy, intervertebral disc disease (IVDD), and vestibular disease.
7. Behavioral Disorders: Some dogs may develop behavioral issues due to various factors such as anxiety, fear, or aggression. Examples include separation anxiety, noise phobias, and resource guarding.

It's important to note that regular veterinary care, proper nutrition, exercise, and preventative measures can help reduce the risk of many dog diseases.

Identification of the physical symptoms is important to distinguish this disease from Papillon-Lefevre Syndrome. Because of ... Treatment of HMS is similar to that for Papillon-Lefevre Syndrome. Oral retinoids, such as acitretin, etretinate, and ... is a skin disease caused, like Papillon-Lefèvre syndrome, by a mutation in the cathepsin C gene. One of its features is thick ... Diagnosis of the disease often comes between the ages of three and five when infant teeth begin to erupt, and the inflammation ...
Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre disease, an autosomal recessive disorder ... Meade JL, de Wynter EA, Brett P, Sharif SM, Woods CG, Markham AF, Cook GP (May 2006). "A family with Papillon-Lefevre syndrome ... In many inflammatory diseases, such as rheumatoid arthritis, chronic obstructive pulmonary disease (COPD), inflammatory bowel ... "Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region". European Journal of Human Genetics. 5 (3): 156-60. doi: ...
Keratosis palmoplantar periodontopathy; Papillon Lefevre Syndrome at NIH's Office of Rare Diseases (Articles with short ... Ahmed Zuhailee Does It Again By Performing Life Changing Surgery For His Patient With Papillon-lefevre Syndrome". French Dental ... "Dermatalogical and oral findings in a cohort of 47 patients with Papillon-Lefevre syndrome". J Am Acad Dermatol. 48 (3): 345- ... Papillon-Lefèvre syndrome (PLS), also known as palmoplantar keratoderma with periodontitis, is an autosomal recessive genetic ...
Kostmann's disease, cyclic neutropenia, Chediak-Hegashi syndrome, histiocytosis X, Papillon-Lefevre syndrome Permanent tooth ... Periodontal disease, or gum disease, is a common finding amongst individuals with dentinogenesis imperfecta despite no clinical ... Although genetic factors are the main contributor for the disease, any environmental or systemic upset that impedes ... In this classification, the authors propose that the DSPP (dentine sialophosphoprotein) diseases, that is dentinogenesis ...
American Southern gospel singing group Lefevre Peninsula Papillon-Lefèvre disease Lefèvre-Utile, French biscuit manufacturer ... Common variations include Lefevre, LeFevre, Le Fevre, le Fevre, Le Fèvre, le Fèvre, LeFever, Lefevere, Le Fêvre and le Fêvre. ... Canadian actress Adam LeFevre (born 1950), American character actor Carlene LeFevre, American competitive eater Eva LeFevre ( ... Australian golfer Benjamin Le Fevre (1838-1922), 19th century politician from Ohio George Le Fevre (1848-1891), surgeon and ...
"Ocular surface squamous neoplasia in Papillon-Lefevre syndrome". Am J Ophthalmol. 139 (1): 207-9. doi:10.1016/j.ajo.2004.07.028 ... Retinoblastoma protein Coats' disease Trilateral retinoblastoma Pinealoblastoma India portal Medicine portal Long link - please ... "Rosai dorfman disease of the orbit". J Hematol Oncol. 1: 7. doi:10.1186/1756-8722-1-7. PMC 2474646. PMID 18588698.{{cite ... adjuvant therapy to mitigate the high risk of metastasis and multimodal management of orbital affection of the disease and he ...
Drawing for the Catalogue Jacket of Dalí's Exhibition at the Alex Reid and Lefevre Gallery in London (1936) The Anthropomorphic ... Salvador Dali, March of Time Committee: Papillon. Christie's. Retrieved 22 August 2014. Dali in One Great Big Piece. The ... for the campaign against venereal disease (1942) Untitled - Set Design (Figures Cut in Three) (1942) William Tell Group (1942- ... Papillon (1940) Old Age, Adolescence, Infancy (The Three Ages) (1940) The Dali Museum, St Petersburg, Florida Perforated House ...
... with Papillon-Lefèvre syndrome, presented with a premature loss of both deciduous and permanent teeth and hyperkeratosis ... Papillon-Lefevre Disease / diagnosis* * Papillon-Lefevre Disease / metabolism * Protein Biosynthesis * Tooth Exfoliation / ... Papillon-Lefèvre syndrome Int J Dermatol. 1983 Apr;22(3):177-9. doi: 10.1111/j.1365-4362.1983.tb03359.x. ... A patient, with Papillon-Lefèvre syndrome, presented with a premature loss of both deciduous and permanent teeth and ...
Identification of the physical symptoms is important to distinguish this disease from Papillon-Lefevre Syndrome. Because of ... Treatment of HMS is similar to that for Papillon-Lefevre Syndrome. Oral retinoids, such as acitretin, etretinate, and ... is a skin disease caused, like Papillon-Lefèvre syndrome, by a mutation in the cathepsin C gene. One of its features is thick ... Diagnosis of the disease often comes between the ages of three and five when infant teeth begin to erupt, and the inflammation ...
Papillon-Lefevre disease + photosensitive trichothiodystrophy 1 Pinheiro Freire-Maia Miranda Syndrome Poland syndrome ... Diseases Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental ... Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease ...
Disease: Papillon-Lefevre syndrome.. Beertsen W, de Haar SF, Mir M, Nguyen M, Kazemi B, Ramezani GH, Everts V, Beertsen W. Hum ... A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre syndrome.. Kurban M, Cheng T, Wajid M, ... A novel mutation of the cathepsin C gene in a thai family with Papillon-Lefevre syndrome.. Nitta H, Wara-Aswapati N, ... Sublocalization of the Papillon-Lefevre syndrome locus on 11q14-q21.. Hart TC, Bowden DW, Ghaffar KA, Wang W, Cutler CW, Cebeci ...
Papillon-Lefevre syndrome (PLS) belongs to palmoplantar keratodermas(PPKs). PLS is a rare autosomal recessive disorder ... There is no history of similar disease in the parents, other siblings and maternal or paternal relatives.Conclusions: ... characterized by PPKs and keratotic plaques of the elbows and knees as well as periodontal disease with resultant premature ... Background: Papillon-Lefevre syndrome (PLS) belongs to palmoplantar keratodermas(PPKs). PLS is a rare autosomal recessive ...
Take a look at our interactive learning Mind Map about Periodontitis as a Manifestation of Systemic diseases, or create your ... Papillon-LeFevre syndrome. *Cathepsin C gene defect. *Palmar-plantar keratosis. *Severe generalised perio. *Onset before ... First Year Dentistry Mind Map on Periodontitis as a Manifestation of Systemic diseases, created by sanna pathy on 03/07/2020. ...
Papillon-Lefevre disease DOID:3389 * morpheaform basal cell carcinoma DOID:4292 * eccrine acrospiroma ... A knowledge graph of biological entities such as genes, gene functions, diseases, phenotypes and chemicals. Embeddings are ...
Disease Name: Papillon-Lefevre disease OMIM id: OMIM:245000. Orphanet id: Orphanet:678. All associated enzymes in DAR: CTSC ... Search results (Disease ID: MONDO:0009490). DiseaseID Gene. UniProt. EC numbers. Reactomes Expanded Reactomes Reactome roots ...
75. PAPILLON-LEFEVRE DISEASE [ՊԱՊԻՅՈՆ-ԼԵՖԵՎՐԻ ՀԱՄԱԽՏԱՆԻՇ] 26. PALLADIUM [ՊԱԼԱԴԻՈՒՄ] 76. PAPIO [ՊԱՎԻԱՆՆԵՐ] ... 43. PANCREATIC DISEASES [ԵՆԹԱՍՏԱՄՈՔՍԱՅԻՆ ԳԵՂՁԻ ՀԻՎԱՆԴՈՒԹՅՈՒՆՆԵՐ] 93. PARAKEETS [ԹՈՒԹԱԿՆԵՐ ՓՈՔՐ] 44. PANCREATIC DUCTS [ ... 7. PAGET`S DISEASE OF BREAST [ՊԱՋԵՏԻ ՔԱՂՑԿԵՂ ԿՐԾՔԱԳԵՂՁԻ ՊՏԿԻ] 57. PANGAMIC ACID [ՊԱՆԳԱՄԱԹԹՈՒ] ... 8. PAGET`S DISEASE, EXTRA-MAMMARY [ՊԱՋԵՏԻ ՔԱՂՑԿԵՂ ԱՐՏԱՊՏԻԿԱՅԻՆ (ԷՔՍՏՐԱՄԱՄԻԼԱՅԻՆ)] 58. PANIC [ԽՈՒՃԱՊ] ...
... the conversation around periodontitis as a manifestation of systemic disease discussing patients that present with Papillon- ... Fast Facts: Perio Edition "Periodontitis as a Manifestation of Systemic Disease - Papillon-Lefèvre". ... "These individuals can start to experience disease processes onset of periodontal disease that is frequent and recurring that ... Papillon-Lefèvre, patient education, perio, perio edition, periodontal, periodontal disease, periodontal pathogens, periodontal ...
Papillon Lefevre syndrome From NCATS Genetic and Rare Diseases Information Center. * Analysis of copy number variation in 8,842 ... Selected Rare Diseases. Browse full list of rare diseases A-Z *Alpha-1 Antitrypsin Deficiency ... Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients. Romero-Quintana JG ... Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it ...
... the first stage of gum disease), a common problem in children and adolescents. ... Papillon-Lefevre syndrome. For example, in a survey of 263 Type I diabetics, 11 to 18 years of age, 10 percent had overt ... Gum Disease. While many people believe periodontal disease is an adult problem, studies indicate that gingivitis (the first ... Conditions that make children more susceptible to periodontal disease include:. * Type I diabetes ...
... the first stage of gum disease), a common problem in children and adolescents. 630-717-5437 ... Papillon-Lefevre syndrome. For example, in a survey of 263 Type I diabetics, 11 to 18 years of age, 10 percent had overt ... Gum Disease. While many people believe periodontal disease is an adult problem, studies indicate that gingivitis (the first ... Conditions that make children more susceptible to periodontal disease include:. * Type I diabetes ...
Papillon-Lefevre syndrome. For example, in a survey of 263 Type I diabetics, 11 to 18 years of age, 10 percent had overt ... Gum Disease. While many people believe periodontal disease is an adult problem, studies indicate that gingivitis (the first ... Advanced forms of periodontal disease are more rare in children than adults, but can occur. ... Conditions that make children more susceptible to periodontal disease include:. *Type I diabetes ...
IN PLAQUES and ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS were indexed under PAPILLON-LEFEVRE DISEASE 2010- ... DISEASES. Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases ... Skin Diseases, Genetic (2002-2009). Public MeSH Note:. 2010; ERYTHROKERATODERMIA FIGURATA, CONGENITAL FAMILIAL, ... Greither Disease. Mendes De Costa Syndrome. Progressive Symmetric Erythrokeratodermia. Transgrediens et Progrediens ...
Loss-of-function mutations in cathepsin C are associated with Papillon-Lefevre and Haim-Munk syndromes, rare diseases ... Red is for disease (OMIM) and blue is for SNPs.. Functional Features are displayed as orange boxes under the histograms. You ... Total Disease Mutations Found: 15. This domain occurred 11 times on human genes (27 proteins).. ...
Diabetes mellitus tipe I Sindroma Papillon-Lefevre (Papillon-Lefevre syndrome) Periodontitis ulseratif nekrosis (necrotizing ... Crohn disease, Addisons disease) Periodontitis bermula dini Periodontitis ulseratif nekrosis Abses periodontal ... Disini berperan penyakit sistemik tertentu sebafaktor etiologi, mis.: sindroma Down, DM tipe I, sindroma Papillon-Lefevre, AIDS ... sindroma Papillon Lefevre, neutropenia, leukemia, sindroma Chediak-Higashi, AIDS, diabetes mellitus tipe 1, trisomy 21, ...
Haim Monk Syndrome use Papillon-Lefevre Disease Haim-Monk Syndrome use Papillon-Lefevre Disease ... Hallopeau Siemens Disease use Epidermolysis Bullosa Dystrophica Hallopeau-Siemens Disease use Epidermolysis Bullosa Dystrophica ... HDL Lipoprotein Deficiency Disease use Hypoalphalipoproteinemias HDL Lipoprotein, Pre-beta use High-Density Lipoproteins, Pre- ... Hand Schueller Christian Disease use Histiocytosis, Langerhans-Cell Hand Schueller Christian Syndrome use Histiocytosis, ...
Haim Monk Syndrome use Papillon-Lefevre Disease Haim-Monk Syndrome use Papillon-Lefevre Disease ... Hallopeau Siemens Disease use Epidermolysis Bullosa Dystrophica Hallopeau-Siemens Disease use Epidermolysis Bullosa Dystrophica ... HDL Lipoprotein Deficiency Disease use Hypoalphalipoproteinemias HDL Lipoprotein, Pre-beta use High-Density Lipoproteins, Pre- ... Hand Schueller Christian Disease use Histiocytosis, Langerhans-Cell Hand Schueller Christian Syndrome use Histiocytosis, ...
Haim Monk Syndrome use Papillon-Lefevre Disease Haim-Monk Syndrome use Papillon-Lefevre Disease ... Hallopeau Siemens Disease use Epidermolysis Bullosa Dystrophica Hallopeau-Siemens Disease use Epidermolysis Bullosa Dystrophica ... HDL Lipoprotein Deficiency Disease use Hypoalphalipoproteinemias HDL Lipoprotein, Pre-beta use High-Density Lipoproteins, Pre- ... Hand Schueller Christian Disease use Histiocytosis, Langerhans-Cell Hand Schueller Christian Syndrome use Histiocytosis, ...
Haim Monk Syndrome use Papillon-Lefevre Disease Haim-Monk Syndrome use Papillon-Lefevre Disease ... Hallopeau Siemens Disease use Epidermolysis Bullosa Dystrophica Hallopeau-Siemens Disease use Epidermolysis Bullosa Dystrophica ... HDL Lipoprotein Deficiency Disease use Hypoalphalipoproteinemias HDL Lipoprotein, Pre-beta use High-Density Lipoproteins, Pre- ... Hand Schueller Christian Disease use Histiocytosis, Langerhans-Cell Hand Schueller Christian Syndrome use Histiocytosis, ...
Teeth are a very complex system within the human body requiring their own need for treatment of disease. Therefore, there... ... Papillon-Lefevre Syndrome Analysis. Individuals with PLS are commonly afflicted with periodontal disease that affects both ... Periodontal disease is very common, many adults in the U.S. currently have some form of this disease. It can range from simple ... diseases. Teeth are a very complex system within the human body requiring their own need for treatment of disease. Therefore, ...
Papillon-Lefevre syndrome. CTSC. CNV. Ceroid lipofuscinosis, neuronal, 10 (CLN10 disease). CTSD. CNV. ... Chronic granulomatous disease, X-linked. CYBB. CNV. Congenital adrenal hyperplasia, 11-beta-hydroxylase-deficient. CYP11B1. CNV ... Chronic granulomatous disease, CYBA-related. CYBA. CNV. ... Glycogen storage disease, type II (Pompe disease). GAA. CNV+. ...
Papillon-Lefevre syndrome: a case report. * [Remarks on the Papillon-Lefevre disease]. ... Papillon-Lefèvre syndrome: a case report]. * Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome ... Clinical and molecular analysis in Papillon-Lefèvre syndrome. * Oral rehabilitation of a case of Papillon-Lefevre syndrome with ... Case Report: Clinical manifestation and dental management of Papillon-Lefèvre syndrome.. Yousry, Yasmin Mohamed; El-Latif, Amr ...
Papillon-Lefevre Syndrome , Pituitary Disorders , Craniosynostosis , Progressive Encephalopathy-optic Atrophy Syndrome , ... Hartnup Disease. About the Disease. Hartnup Disorder, also known as hartnup disease, is related to aminoaciduria and cystinuria ... Mitochondrial Disease , Bartter Syndrome , Menieres Disease , Tuberculous Meningitis , Charcot-Marie-Tooth Disease, Type 2C , ... above against the disease of Hartnup Disease at a cost 90% lower than traditional approaches, please feel free to contact us at ...
Sublocalization of the Papillon-Lefevre syndrome locus on 11q14-q21. Am J Med Genet. 1998 Sep 1. 79(2):134-9. [QxMD MEDLINE ... Onset of disease occurs between birth and age 3 years with stable disease severity over time. To date, the approximately 30 ... Both this disease and Naxos disease are autosomal recessive, whereas most of the hereditary dilated cardiomyopathies are ... Clinically, the disease was initially described as a milder form of mal de Meleda. Some classify this keratosis as its own ...
Papillon-Lefevre disease + Parana Hard Skin Syndrome Paraneoplastic Syndromes + PARC Syndrome Parkinsons disease 14 ... Diseases Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 Developmental Disease Diabetes ... Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory ...
PROSTHETIC MANAGEMENT OF PATIENT WITH PAPILLON-LEFEVRE SYNDROME: A CLINICAL REPORT. Author(s): Sushen Sharma, Akhil Mittal, TK ... ROSAI-DORFMAN DISEASE WITH CERVICAL LYMPHADENOPATHY AND ORBITAL INVOLVEMENT: A CASE REPORT. Author(s): Sameer Saleem, Sundas ... PREVALENCE OF CHRONIC DISEASES IN INDIVIDUALS ASSISTED BY THE FAMILY HEALTH PROGRAM IN NITEROI, BRAZIL: EVALUATION OF SELECTION ... SERUM LEVELS OF HIGH SENSITIVITY C REACTIVE PROTEIN AND MALONDIALDEHYDE IN CHRONIC KIDNEY DISEASE. Author(s): Rakshitha Gowda B ...
Dariers disease and depigmented macules. SN Tolat, S Agarwal, MA Borkar, SN Ghosh ...
  • A patient, with Papillon-Lefèvre syndrome, presented with a premature loss of both deciduous and permanent teeth and hyperkeratosis palmaris et plantaris. (nih.gov)
  • Haim-Munk syndrome (also known as "palmoplantar keratoderma with periodontitis and arachnodactyly, acro-osteolysis and Cochin Jewish syndrome") is a skin disease caused, like Papillon-Lefèvre syndrome, by a mutation in the cathepsin C gene. (wikipedia.org)
  • Identification of the physical symptoms is important to distinguish this disease from Papillon-Lefevre Syndrome. (wikipedia.org)
  • Treatment of HMS is similar to that for Papillon-Lefevre Syndrome. (wikipedia.org)
  • A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre syndrome. (lu.se)
  • Functional Cathepsin C mutations cause different Papillon-Lef vre syndrome phenotypes. (lu.se)
  • Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lef vre syndrome. (lu.se)
  • Novel mutations of cathepsin C gene in two Chinese patients with Papillon-Lef vre syndrome. (lu.se)
  • Papillon-Lef vre syndrome with albinism: a review of the literature and report of 2 brothers. (lu.se)
  • Disease: Papillon-Lefevre syndrome. (lu.se)
  • Clinical, genetic, and biochemical findings in two siblings with Papillon-Lef vre Syndrome. (lu.se)
  • Loss-of-function mutations in cathepsin C in two families with Papillon-Lef vre syndrome are associated with deficiency of serine proteinases in PMNs. (lu.se)
  • Novel mutations in the cathepsin C gene in patients with pre-pubertal aggressive periodontitis and Papillon-Lef vre syndrome. (lu.se)
  • Coinheritance of two rare genodermatoses (Papillon-Lef vre syndrome and oculocutaneous albinism type 1) in two families: a genetic study. (lu.se)
  • The role of cathepsin C in Papillon-Lef vre syndrome, prepubertal periodontitis, and aggressive periodontitis. (lu.se)
  • Papillon-Lef vre syndrome: correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans. (lu.se)
  • Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lef vre syndrome. (lu.se)
  • A genetic study of cathepsin C gene in two families with Papillon-Lef vre syndrome. (lu.se)
  • Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lef vre syndrome. (lu.se)
  • Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lef vre syndrome. (lu.se)
  • A novel mutation of the cathepsin C gene in Papillon-Lef vre syndrome. (lu.se)
  • Background: Papillon-Lefevre syndrome (PLS) belongs to palmoplantar keratodermas(PPKs). (amjcaserep.com)
  • Case Report: Clinical manifestation and dental management of Papillon-Lefèvre syndrome. (bvsalud.org)
  • Papillon-Lefevre syndrome - May have a punctate keratoderma but, typically, this is more extensive with transgrediens (lesions extending to the dorsal surface of the palms and soles). (logicalimages.com)
  • Acquired keratodermas are divided into keratoderma climactericum, keratoderma associated with internal malignancy, PPK due to inflammatory and reactive dermatoses, PPK caused by infections, drug-related PPK, and systemic disease-associated PPK. (medscape.com)
  • PLS is a rare autosomal recessive disorder characterized by PPKs and keratotic plaques of the elbows and knees as well as periodontal disease with resultant premature loss of deciduous and permanent teeth. (amjcaserep.com)
  • These individuals can start to experience disease processes onset of periodontal disease that is frequent and recurring that oftentimes results in pus in the tissues and so with these individuals, we can oftentimes see that they are prematurely losing their teeth associated with the sequelae of periodontal disease. (ataleoftwohygienists.com)
  • While many people believe periodontal disease is an adult problem, studies indicate that gingivitis (the first stage of periodontal disease) is nearly a universal problem among children and adolescents. (pediatricdentistryconsultants.com)
  • Advanced forms of periodontal disease are more rare in children than adults, but can occur. (pediatricdentistryconsultants.com)
  • If left untreated, it can eventually advance to more serious forms of periodontal disease. (pediatricdentistryconsultants.com)
  • Individuals with PLS are commonly afflicted with periodontal disease that affects both deciduous and succedaneous teeth, eventually leading to edentulism (Sulak, et al. (cram.com)
  • Loss-of-function mutations in cathepsin C are associated with Papillon-Lefevre and Haim-Munk syndromes, rare diseases characterized by hyperkeratosis and early-onset periodontitis. (umbc.edu)
  • First Year Dentistry Mind Map on Periodontitis as a Manifestation of Systemic diseases, created by sanna pathy on 03/07/2020. (goconqr.com)
  • On this week's episode of Fast Facts - Perio Edition, Katrina Sanders, we are continuing the conversation around periodontitis as a manifestation of systemic disease discussing patients that present with Papillon-Lefèvre. (ataleoftwohygienists.com)
  • Patients who present with Papillon-Lefèvre are oftentimes characterized by patients who have hyperkeratosis of their tissue. (ataleoftwohygienists.com)
  • An autosomal dominant skin disease characterized by transient and variable noninflammatory ERYTHEMA and hyperkeratosis. (bvsalud.org)
  • Red is for disease (OMIM) and blue is for SNPs. (umbc.edu)
  • A knowledge graph of biological entities such as genes, gene functions, diseases, phenotypes and chemicals. (edu.sa)
  • Hartnup Disorder, also known as hartnup disease, is related to aminoaciduria and cystinuria, and has symptoms including seizures An important gene associated with Hartnup Disorder is SLC6A19 (Solute Carrier Family 6 Member 19), and among its related pathways/superpathways are Disease and Transport of inorganic cations/anions and amino acids/oligopeptides. (silexon.tech)
  • Though a variety of factors such as microbial, environmental, and behavioral factors and systemic diseases are suggested to influence the risk of aggressive peri- odontitis, an individual genetic profile is a crucial factor, influencing the systemic or host response-related risk [2],[3]. (dokumen.tips)
  • 2011 Feb, Vol-5(1):152-154 Aggressive periodontitis is a group of infrequent types of peri- odontal diseases with rapid attachment loss and bone destruc- tion, which are initiated at a young age. (dokumen.tips)
  • Aggressive periodontitis is a group of infrequent types of periodon- tal diseases with rapid attachment loss and bone destruction, which are initiated at a young age. (dokumen.tips)
  • Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. (cdc.gov)
  • Richner-Hanhart, also known as tyrosinemia type 2, is an autosomal recessive disease of tyrosine metabolism. (logicalimages.com)
  • There is no history of similar disease in the parents, other siblings and maternal or paternal relatives. (amjcaserep.com)
  • In addition there are five stages of chronic kidney disease in which Stage 5 means kidney failure, which is also called End Stage Renal Disease (ESRD)(4). (pdfplayer.org)
  • Synonyms for epidermolytic PPK (EPPK) include diffuse Vorner disease and PPK cum degeneratione granulosa. (medscape.com)
  • Molecular data cannot solve all disease problems Molecular data are powerful tools in our struggle with dis- eases, but the AIDS epidemic shows that they cannot solve all medical problems. (binaryoptiontradingscam.com)
  • Note: If you'd like to get a target analysis report for Hartnup Disease , or if you are interested to learn how our AI-powered BDE-Chem can design therapeutic molecules to interact with the target(s) above against the disease of Hartnup Disease at a cost 90% lower than traditional approaches, please feel free to contact us at [email protected] . (silexon.tech)
  • Diagnosis of the disease often comes between the ages of three and five when infant teeth begin to erupt, and the inflammation and degeneration of the tissues surrounding and supporting the teeth becomes apparent. (wikipedia.org)
  • Teeth are a very complex system within the human body requiring their own need for treatment of disease. (cram.com)
  • Between 25% of patients making dialyses using catheters in the first to start with which are invariably removed in patients with AK.According to the National Kidney Foundation and Kidney Disease Outcomes Quality Initiative. (pdfplayer.org)
  • The incidence of treated end-stage renal disease was estimated at 163 cases/ per million population, while the prevalence was estimated to be 604 cases/per million population (6). (pdfplayer.org)
  • citation needed] In certain cases, there has also been arthritis in the shoulders and wrists reported with the disease. (wikipedia.org)
  • Haim-Munk syndrome (also known as "palmoplantar keratoderma with periodontitis and arachnodactyly, acro-osteolysis and Cochin Jewish syndrome") is a skin disease caused, like Papillon-Lefèvre syndrome, by a mutation in the cathepsin C gene. (wikipedia.org)
  • Identification of the physical symptoms is important to distinguish this disease from Papillon-Lefevre Syndrome. (wikipedia.org)
  • Treatment of HMS is similar to that for Papillon-Lefevre Syndrome. (wikipedia.org)
  • Palmoplantar keratodermas are a heterogenous group of diseases, one of them is Papillon-Lefevre Syndrome (PLS). (iranjd.ir)
  • Papillon-Lefevre syndrome: A report of two cases in a family', Iranian Journal of Dermatology , 9(suppl.1), pp. 1-1. (iranjd.ir)
  • Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder characterized by palmoplantar keratoderma and early-onset periodontitis. (karger.com)
  • Papillon-Lefèvre syndrome in two siblings: a case report. (johsr.com)
  • Papillon Lefevre syndrome: a case report with review. (johsr.com)
  • Haim Munk syndrome and Papillon-Lefèvre syndromes are allelic mutation in cathepsin C. J Med Genet 2000 Feb;37(2):88-94. (johsr.com)
  • Late onset of Papillon-Lefevre syndrome? (johsr.com)
  • A possible late onset variation of Papillon Lefevre syndrome: report of 3 cases. (johsr.com)
  • Periodontal treatment of rapid progressive periodontitis in 2 siblings with Papillon-Lefevre syndrome: 15-year follow-up. (lookfordiagnosis.com)
  • Other IEI can have phagocytic abnormalities in addition to other immune defects, such as Chediak-Higashi syndrome (CHS), Hermansky-Pudlak syndrome type 2 (HPS2), Mendelian susceptibility to mycobacterial disease (MSMD), and warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome. (medilib.ir)
  • Papillion-Lefevre syndrome (PALS) is an autosomal recessive disorder characterized by palmoplantar keratoderma, periodontitis, and premature loss of dentition (summary by Lefevre et al. (beds.ac.uk)
  • Periodontitis, the advanced stage of gum disease, is uncommon in children. (drgarofalo.com)
  • Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease. (johsr.com)
  • Periodontitt er beskrevet assosiert med hjerte- og karsykdommer, slag, lungesykdommer, diabetes, for tidlig fødsel og lav fødselsvekt, osteoporose, reumatoid artritt (19), stress (20) og palmoplantar hyperkeratose i Papillon-Lefevre syndrom (21). (tannlegetidende.no)
  • Videre er det vist komorbiditet mellom palmoplantar hyperkeratose og aggressiv periodontitt hos pasienter med Papillon-Lefevre syndrom (21). (tannlegetidende.no)
  • Koeksistensen av palmoplantar pustulose, periodontitt og bakterielle «heat shock» proteiner (26), samt regresjon av palmoplantar pustulose etter periodontal behandling hos en pasient med alvorlig periodontitt (27) har vært publisert. (tannlegetidende.no)
  • Staying on top of your oral hygiene will help you avoid gum disease and keep your teeth healthy and strong for a lifetime. (drgarofalo.com)
  • Because women experience stages of increased and fluctuating hormones, they are more susceptible than men to gum disease and other oral problems during certain times of life. (drgarofalo.com)
  • However, the American Academy of Periodontology points out that older people have the highest rates of gum disease and need to do more to maintain good oral health and protect themselves from tooth loss. (drgarofalo.com)
  • If an accelerated risk of lung disease, heart disease, stroke, and cancer aren't deterrent enough, smokers and tobacco users also are at an increased risk of all manner of oral problems, including decay, tooth loss, bone loss, mouth sores, gum recession and oral cancer. (drgarofalo.com)
  • Premature loss of primary teeth can occur as a consequence of dental trauma, neonatal tooth extraction, early childhood caries, or periodontal problems, or it can be a manifestation of systemic disease. (nih.gov)
  • after provisional assessment of the titles and abstracts by two reviewers, 46 were found to be relevant to the topic, including 1 review, 16 original papers, and 27 case reports regarding systemic disease resulting in premature tooth loss. (nih.gov)
  • The risk of gum disease is higher, and the potential effects of gum disease are critical, as research links gum disease to an increase in both premature labor and low birth weight. (drgarofalo.com)
  • We describe a new familial metabolic bone disease characterized by expanding hyperostotic long bones, early onset deafness , premature tooth loss , and episodic hypercalcemia . (lookfordiagnosis.com)
  • 12 disease terms (MeSH) has been reported with CTSC gene. (cdc.gov)
  • Acquired keratodermas are divided into keratoderma climactericum, keratoderma associated with internal malignancy, PPK due to inflammatory and reactive dermatoses, PPK caused by infections, drug-related PPK, and systemic disease-associated PPK. (medscape.com)
  • Periodontal manifestations of systemic disease. (johsr.com)
  • Periodontal disease associated to systemic genetic disorders. (johsr.com)
  • And osteoporosis, most common in older adults (especially women), can increase bone loss in the jaw, leading to tooth loss, especially in combination with gum disease. (drgarofalo.com)
  • Mutations in the gene for CATHEPSIN C have been associated with this disease. (nih.gov)
  • Homozygous or compound heterozygous pathogenic variants of CTSC cause the disease. (karger.com)
  • The lack of scientific knowledge on hereditary sensory and autonomic neuropathy due to the rarity of the disease often results in a delay in diagnosis, which is of substantial importance for the prevention of many complications and symptoms. (biomedcentral.com)
  • While many people believe periodontal disease is an adult problem, studies indicate that gingivitis (the first stage of periodontal disease) is nearly a universal problem among children and adolescents. (seasmilesfoley.com)
  • But gingivitis, the first stage of the disease, is quite widespread in children and teens. (drgarofalo.com)
  • Note: The number of publications displayed in this table will differ from the number displayed in the HuGE Literature Finder as the number in Genopedia reflects only the indexed disease term without children terms, but the number in the HuGE Literature Finder reflects all text searches of the disease term including the indexed term and corresponding children terms. (cdc.gov)
  • If your child suffers from gum disease, especially long-term, treatment-resistant gum disease, it may be an indication of a systemic condition. (drgarofalo.com)
  • As with adults, children with particular systemic conditions are especially susceptible to gum disease. (drgarofalo.com)
  • Note: If you'd like to get a target analysis report for Hemorrhage , or if you are interested to learn how our AI-powered BDE-Chem can design therapeutic molecules to interact with the target(s) above against the disease of Hemorrhage at a cost 90% lower than traditional approaches, please feel free to contact us at [email protected] . (silexon.tech)
  • Advanced forms of periodontal disease are more rare in children than adults, but can occur. (seasmilesfoley.com)
  • citation needed] In certain cases, there has also been arthritis in the shoulders and wrists reported with the disease. (wikipedia.org)
  • Papillon-Lefevre: report of a case. (johsr.com)
  • Synonyms for epidermolytic PPK (EPPK) include diffuse Vorner disease and PPK cum degeneratione granulosa. (medscape.com)
  • Synonyms include diffuse Unna-Thost disease and PPK diffusa circumscripta. (medscape.com)
  • We report two brothers with PLS who did not have a history of this disease in their family. (iranjd.ir)
  • and 4) access to information related to rare diseases for basic and clinical researchers, academic and practicing physicians, patients, and the lay public. (nih.gov)
  • Clinical data management for efficient data collection as well as data mining and data sharing across rare diseases will be addressed in the DMCC application. (nih.gov)
  • This Funding Opportunity Announcement (FOA) invites applications for the Rare Diseases Clinical Research Consortia (RDCRC) component of the Rare Diseases Research Network (RDCRN). (nih.gov)
  • Clinical data management for efficient data collection as well as data mining and data sharing will be addressed through the Data Management and Coordinating Center (DMCC) component of the Rare Diseases Clinical Research Network (RDCRN). (nih.gov)
  • Interdisciplinary work of specialized medical and dental teams and development of a standardized treatment protocols are essential for the management of the disease. (biomedcentral.com)
  • Also, bacteria can be spread through saliva, so avoid sharing forks and spoons, especially if any signs of gum disease are evident. (drgarofalo.com)
  • Diagnosis of the disease often comes between the ages of three and five when infant teeth begin to erupt, and the inflammation and degeneration of the tissues surrounding and supporting the teeth becomes apparent. (wikipedia.org)
  • Indeed, online health communities can serve as meeting ground for those with diseases to seek out support and advice outside of the healthcare system. (nih.gov)
  • Onset occurs in the first few months of life, but the disease is usually well developed by age 3-4 years. (medscape.com)
  • These conditions can lead to gum disease, which can be exacerbated by osteoporosis. (drgarofalo.com)
  • Be sure to let us and your general dentist know if you plan to become pregnant, so we can take extra precautions against gum disease. (drgarofalo.com)
  • Gum disease runs in families, so if one family member has experienced gum disease, everyone else should have screenings. (drgarofalo.com)
  • During puberty, gum sensitivity can increase with hormonal fluctuations, leaving teens at a greater risk of gum disease. (drgarofalo.com)
  • As a result of the multivariate model established with these factors, which were found to be significant in univariate analyses, only the presence of cardiac disease (p=0.0001) and the increase in CCI scores (p=0.0001) were found to have a statistically significant increasing effect on mortality. (bvsalud.org)