Regional chromosomal assignment of human renin gene to 1q12→qter and use in linkage studies in Charcot-Marie-Tooth disease

The gene for renin, previously mapped to human chromosome 1, was further localized to 1q12 → qter using human-mouse somatic cell hybrid DNAs. The renin DNA probe used (λ HR5) could detect a HindIII restriction fragment length polymorphism. When used in studies of 12 informative families, no linkage could be found between the renin and Charcot-Marie-Tooth disease. Furthermore, an association of any renin allele with hypertension was not apparent.

Heterogeneity evidence and linkage studies on Charcot-Marie-Tooth disease

Charcot-Marie-Tooth neuropathy type 1 (CMT1) is an autosomal dominant disorder originally localized to chromosome 1 by linkage to the Duffy blood group. Studies have since shown that the disorder may be heterogeneous, as not all families show this linkage. We tested genetic heterogeneity by the HOMOG computer program in 15 CMT1 pedigrees informative for Duffy. We detected no evidence for heterogeneity in this sample, but when we combined results with previously published lod scores, heterogeneity was statistically significant. Twelve of the 15 families studied did not show linkage to Duffy. We found six of these families to be informative for a chromosome 19 marker, apolipoprotein CII(ApoC2). Despite a previous report showing probable linkage of a non-Duffy-linked CMT1 pedigree to two chromosome 19 markers, we did not detect significant linkage of ApoC2 to CMT1 in these families.

Isolation and use of chromosome 1 probes for linkage studies on Charcot-Marie-Tooth disease

Nine probes were isolated from a human chromosome 1 enriched library and mapped to regions of chromosome 1 using somatic cell hybrid lines. One clone, LR67, which mapped 1q12→q23 detected a BglI RFLP. This probe, as well as 4 other known chromosome 1 markers, α-spectrin, Factor XIIIB, DR10 and DR78, were used for linkage studies in 15 Charcot-Marie-Tooth disease (CMT1) families. Close linking of CMT1 to any of the 5 markers was not indicated. Total lod scores excluded linkage of CMT1 to LR67 and to DR10 at 5 cM or less, to DR78 and 10 cM or less, α-spectrin at 15 cM or less and Factor XIIIB at 20 cM or less. Possible linkage, however, was shown between LR67 and CMT1 at a distance of 30 cM. Also linkage at a distance of 5 cM was detected between this probe and α-spectrin.

Quality of life in patients with Charcot-Marie-Tooth disease type 1A

Avaliou-se o comprometimento funcional de pacientes com Charcot-Marie-Tooth provenientes da duplicação 17p11.2-p12 (CMT1A), utilizando o SF-36, que é um questionário para medir a qualidade de vida. Vinte e cinco pacientes de ambos os sexos com idades ≥10 anos e diagnóstico molecular de CMT1A foram selecionados. Idade, sexo, condições sociodemográficas e profissionais foram pareados com o Grupo Controle (sem histórico familiar de neuropatia). Os resultados mostraram que o maior impacto da CMT1A na qualidade de vida ocorreu nos domínios social e emocional dos pacientes avaliados. A capacidade funcional também tende a ser significativamente afetada, enquanto outros indicadores de deficiência física foram preservados. Por fim, os aspectos sociais e emocionais dos pacientes acometidos por CMT1A costumam ser negligenciados na assistência médica prestada aos pacientes brasileiros, e devem ser melhor compreendidos a fim de oferecer uma assistência global à saúde, resultando em adequada qualidade de vida.

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family

Background: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. Objective: We describe physical and histological features, and the molecular impact of mutation Q163X in a Colombian family. Methods: We report two female patients, daughters of consanguineous parents, with onset of symptoms within the first two years of life, developing severe functional impairment, without evidence of dysmorphic features, hoarseness or diaphragmatic paralysis. Electrophysiology tests showed a sensory and motor neuropathy with axonal pattern. Sequencing of GDAP1 gene was requested and the study identified a homozygous point mutation (c.487 C>T) in exon 4, resulting in a premature stop codon (p.Q163X). This result confirms the diagnosis of Charcot-Marie-Tooth disease, type 4A. Results: The patients were referred to Physical Medicine and Rehabilitation service, in order to be evaluated for ambulation assistance. They have been followed by Pulmonology service, for pulmonary function assessment and diaphragmatic paralysis evaluation. Genetic counseling was offered. The study of the genealogy of the patient, phenotypic features, and electrophysiological findings must be included as valuable tools in the clinical approach of the patient with Charcot-Marie-Tooth disease, in order to define a causative mutation. In patients of South American origin, the presence of GDAP1 gene mutations should be considered, especially the Q163X mutation, as the cause of CMT4A disease.

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family

Background: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. Objective: we describe physical and histological features, and the molecular impact of mutation Q163X in a Colombian family. Methods: We report two female patients, daughters of consanguineous parents, with onset of symptoms within the first two years of life, developing severe functional impairment, without evidence of dysmorphic features, hoarseness or diaphragmatic paralysis. Electrophysiology tests showed a sensory and motor neuropathy with axonal pattern. Sequencing of GDAP1 gene was requested and the study identified a homozygous point mutation (c.487 C>T) in exon 4, resulting in a premature stop codon (p.Q163X). This result confirms the diagnosis of Charcot-Marie-Tooth disease, type 4A. Results: The patients were referred to Physical Medicine and Rehabilitation service, in order to be evaluated for ambulation assistance. They have been followed by Pulmonology service, for pulmonary function assessment and diaphragmatic paralysis evaluation. Genetic counseling was offered. The study of the genealogy of the patient, phenotypic features, and electrophysiological findings must be included as valuable tools in the clinical approach of the patient with Charcot-Marie-Tooth disease, in order to define a causative mutation. In patients of South American origin, the presence of GDAP1 gene mutations should be considered, especially the Q163X mutation, as the cause of CMT4A disease.

Chromosome I linkage studies in Charcot-Marie-Tooth neuropathy type I

Charcot-Marie-Tooth neuropathy type 1 (CMT1) is an autosomal dominant disorder of peripheral nerve. The gene for CMT1 was originally localized to chromosome 1 by linkage to the Duffy blood group, but it has since been shown that not all CMT1 pedigrees show this linkage. We report here the results of linkage studies using five chromosome 1 markers - Duffy (Fy), antithrombin III (AT3), renin (REN), β-nerve growth factor (NGFB), and salivary amylase (AMY1) - in 16 CMT1 pedigrees. The total lod scores exclude close linkage of CMT1 to any of these markers. However, individual families show probable linkage of CMT1 to Duffy, AT3, and/or AMY1. No linkage was indicated with REN or NGFB. These results indicate that possible location of a CMT1 gene between the AMY1 and AT3 loci at p21 and q23, respectively, on chromosome 1 and support the theory that there is at least one other CMT1 gene.

DNA probes in Charcot-Marie-Tooth neuropathy

Results of Duffy (Fy) linkage confirm genetic heterogeneity in Charcot-Marie-Tooth disease type 1 (CMT1). Of 11 families informative for Fy, four showed probable linkage with CMT1, seven showed probable non-linkage and two showed definite non-linkage. These results suggest that Fy linked CMT1 may be less common than previously thought. These results combined with those of another DNA probe for the antithrombin III gene confirm that there are at least two gene loci for CMT1, termed 1A and 1B.

Immediate replantation of maxillary incisors in rats: effects of tooth immersion in sodium fluoride and subsequent removal of the periodontal ligament.

The advantages and disadvantages of maintaining the periodontal ligament (PDL) in immediate replantation as well as chemical treatment of the root surface have been a matter of discussion because the vitality of such tissue in surgery is always questioned. This study evaluated the effects of conserving the tooth in sodium fluoride and the removal of the PDL before replantation of incisors in rats. There was more cementum-dentin resorption in the group with the PDL. The group without the PDL showed more discreet resorption, repair occurred through the newly formed bone tissue in the PDL space and ankylosis was more extensive than in the group with the PDL.

Maxillary canine - First premolar transposition: Restoring normal tooth order with segmented mechanics

Tooth transpositions present at a relatively low incidence in the world population and primarily affect maxillary canines and premolars. Treatment of this disturbance should take into account aspects such as facial pattern, age, malocclusion, tooth-size discrepancy, stage of eruption, and magnitude of the transposition. Mechanics for correction should be entirely individualized, reducing the risks and adverse effects. Practitioners often select simpler options, indicating extraction of permanent teeth, which is an irreversible procedure that may bring about damages to the patient. This study presents a case report and treatment of unilateral transposition of maxillary canine and premolar with repositioning of affected teeth to their respective normal positions. © 2006 by The EH Angle Education and Research Foundation, Inc.

Information for the diagnosis and treatment of root resorption due to tooth replantation.

A favorable prognosis after tooth avulsion depends on some variables, such as the extra-alveolar period and storage medium. Vitality of the periodontal ligament cells is considered a critical factor for a successful outcome without root resorption. The dental surgeon is provided with clinical information and radiographic findings to establish a diagnosis and may rely on current available guidelines. Once trauma has occurred, treatment must be quick and effective, and periodic follow-up must be performed. Clinical, radiographic, and histologic characteristics for each type of root resorption due to tooth replantation are presented, with the aim to provide information for the diagnosis and treatment of healing complications.

Oral health of the elderly with Alzheimer's disease

Objective: The objective of this study was to describe the oral health of elderly people diagnosed with Alzheimer's disease (AD). Study Design: Thirty elderly subjects with AD (mild, moderate, and severe) and 30 without AD (controls) were included in the study. Volunteer-reported oral health data were collected using the General Oral Health Assessment Index (GOHAI). Demographic and oral characteristics were assessed, including the number of natural teeth; number of decayed, missing, and filled teeth (DMTF); oral health index (OHI); removable prosthesis conditions; and oral pathologies. Results: GOHAI values were similar for both groups. Compared with the controls, the subjects with AD had a higher age, DMTF, OHI, and number of oral pathologies and a lower educational level and number of natural teeth. Conclusions: Elderly subjects with AD had poorer oral health than those without the disease. Despite the positive self-perception of their oral health, the oral health of subjects with AD tended to decline as their disease progressed. © 2012 Elsevier Inc.

Estudo da infiltração marginal em restaurações de resinas compostas para dentes posteriores. Efeito do material, preparo cavitário e condicionamento do esmalte a nível cervical.

The purpose of this in vitro study was to investigate the cervical marginal leakage in class II restorations with chemically cured resin (P10) and light-cured resin (P30) in two types of cavities: conventional and adhesive. The effect of acid-etching in this area was also observed. Dentine adhesive Scotchbond was used in all experimental groups. Leakage was evidenced by Rodamina B dye penetration after thermocycling procedure between 10 degrees C and 50 degrees C temperature and analysed by using Zeiss Stereoscopic Magnifying Glass (10 X). According to the results obtained marginal leakage occurred in all experimental groups, with lower percentage for adhesives cavities when enamel acid-etching and light-cured resin P30 was used.