Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027947 (neutropenia)
 17,527 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The hereditary dentine disorders, dentinogenesis imperfecta (DGI) and dentine dysplasia (DD), comprise a group of autosomal dominant genetic conditions characterised by abnormal dentine structure affecting either the primary or both the primary and secondary dentitions. DGI is reported to have an incidence of 1 in 6,000 to 1 in 8,000, whereas that of DD type 1 is 1 in 100,000. Clinically, the teeth are discoloured and show structural defects such as bulbous crowns and small pulp chambers radiographically. The underlying defect of mineralisation often results in shearing of the overlying enamel leaving exposed weakened dentine which is prone to wear. Currently, three sub-types of DGI and two sub-types of DD are recognised but this categorisation may change when other causative mutations are found. DGI type I is inherited with osteogenesis imperfecta and recent genetic studies have shown that mutations in the genes encoding collagen type 1, COL1A1 and COL1A2, underlie this condition. All other forms of DGI and DD, except DD-1, appear to result from mutations in the gene encoding dentine sialophosphoprotein (DSPP), suggesting that these conditions are allelic. Diagnosis is based on family history, pedigree construction and detailed clinical examination, while genetic diagnosis may become useful in the future once sufficient disease-causing mutations have been discovered. Differential diagnoses include hypocalcified forms of amelogenesis imperfecta, congenital erythropoietic porphyria, conditions leading to early tooth loss (Kostmann's disease, cyclic neutropenia, Chediak-Hegashi syndrome, histiocytosis X, Papillon-Lefevre syndrome), permanent teeth discolouration due to tetracyclines, Vitamin D-dependent and vitamin D-resistant rickets. Treatment involves removal of sources of infection or pain, improvement of aesthetics and protection of the posterior teeth from wear. Beginning in infancy, treatment usually continues into adulthood with a number of options including the use of crowns, over-dentures and dental implants depending on the age of the patient and the condition of the dentition. Where diagnosis occurs early in life and treatment follows the outlined recommendations, good aesthetics and function can be obtained.
 ...
PMID:Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia. 1902 96

While the most frequent, surgery for colorectal cancer is avoided in patients with metastases to the regional lymph nodes (stage III) or distant ones (stage IV). Hence, it is being increasingly substituted with neoadjuvant treatment. Our investigation is concerned with prospective evaluation of the efficacy and toxicity profile of capecitabine (XELODA) in combination with oxaliplatin (XELOX) and adjuvant Mayo treatment (stage IIb-III). Patients had undergone radical surgery (somatic status < or = 2-ECOG). The prospective group (166) received 8 courses of adjuvant polychemotherapy (XELOX); the retrospective (2001-2005) one (152)--6 (Mayo). The groups matched one another as far as number, gender, age and primary tumor localization are concerned. Regional lymph node involvement in group 1 was 64.5%; group 2--59.8%. Lympho-vascular invasion by tumor was typical of group 1; gastrointestinal toxicity - 9.2% (Mayo) vs. 7.2% in group 1. Hematological complications were 5.4% (XELOX) and 5.3% (Mayo); neutropenia-- 5.0% (Mayo) and 3.0% (XELOX); polyneutropenia-- 3.6% (XELOX); capecitabine-related Papillon-Lefevre syndrome-- 8.4%. Three-year relapse-free survival was 53.0% (XELOX) and 47.5 % (Mayo). After adjuvant treatment, toxicity profile with XELOX was lower than that after Mayo, with the survival tending to improve.
 ...
PMID:[Results of adjuvant chemotherapy (XELOX) of advanced colorectal cancer]. 2180 62

Langerhans cell histiocytosis (LCH) is a rare idiopathic disease characterized by the clonal proliferation of Langerhans cells. LCH affects five children per million population. The peak incidence is from 1 to 4 years of age. LCH involves the head and neck region quite commonly. Oral soft tissue lesions are also common. The differential diagnosis of oral LCH includes leukemia, neutropenia, prepubertal periodontitis, hypophosphatasia, fibrous dysplasia, and Papillon-Lefevre syndrome. The prognosis of LCH depends on early detection and appropriate management. Surgical management alone is used in 50% of cases with an additional 23% of the lesions being treated with both surgery and radiation therapy. A case of LCH in a 6-year-old girl involving the mid root level of developing first permanent molar with a floating developing tooth bud of permanent second molar mimicking an inflammation is reported.
...
PMID:Oral manifestion of Langerhans cell histiocytosis mimicking inflammation. 2499 57