Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “TOOTH DISEASES”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 775 records · Page 43Linked to original sources
PubMed2007

Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations.

Mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) are the most commonly identified cause of Charcot-Marie-Tooth type 2 (CMT2), a dominantly inherited disease characterized by degeneration of peripheral sensory and motor axons. However, the mechanism by which mutations in this ubiquitously expressed mitochondrial fusion protein lead to neuropathy has not yet been elucidated. To explore how MFN2 mutations lead to degeneration of peripheral axons, we expressed neuropathy-associated forms of MFN2 in cultured dorsal root ganglion neurons, cells preferentially affected in CMT2. Disease-associated MFN2 mutant proteins induced abnormal clustering of small fragmented mitochondria in both neuronal cell bodies and proximal axons. Interestingly, transport of mitochondria in axons was significantly impaired in neurons expressing disease-mutated forms of MFN2. The diminished axonal mitochondrial transport was not attributable to diminished ATP levels in the neurons, and oxidative respiration was normal in mutant MFN2-expressing cells. Additionally, mitochondrial oxidative enzyme activity was normal in muscle mitochondria from a CMT2 patient with an MFN2 mutation, further supporting that abnormal mitochondrial transport in neurons is independent from an energy production defect. This abnormal mitochondrial trafficking provides a likely explanation for the selective susceptibility of the longest peripheral axons to MFN2 mutations, in which proper localization of mitochondria is critical for axonal and synaptic function.

Animals↗
PubMed1993

Hereditary motor-sensory neuropathy (Charcot-Marie-Tooth disease) with nerve deafness: a new variant.

Hereditary motor-sensory neuropathy with sensorineural deafness is described in a family; the neurologic features and deafness were apparent in early childhood and infancy. The clinical syndrome in the family was not closely linked to the Duffy blood group, nor was duplication demonstrated at the disease-associated locus 17 p11.2. This family may represent a different form of this heterogeneous disease.

Adolescent↗
PubMed2003

Gastroesophageal reflux disease, tooth erosion, and prosthodontic rehabilitation: a clinical report.

Gastroesophageal reflux disease (GERD) is a relatively common gastrointestinal disorder in the United States. The reflux of acid adversely affects the mucosal lining of the esophagus and is responsible for dental erosion. This article briefly reviews the etiology, risk factors, and medical management of GERD. The patient presentation describes the rehabilitation of a young adult with GERD who needed multidisciplinary care.

Adolescent↗
PubMed1998

Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: a SacI polymorphism in the proximal CMT1A-REP elements may lead to genetic misdiagnosis.

A male patient with clinical signs and symptoms of a demyelinating neuropathy was shown to have a duplication of the 1.5-Mb region on chromosome 17p11.2 by means of two-color fluorescence in situ hybridization (FISH). This duplication is typical for the vast majority of Charcot-Marie-Tooth type 1A (CMT1A) cases. Analysis of DNA extracted from peripheral blood used to detect an EcoRI/SacI 3. 2-kb junction fragment with probe pLR7.8 confirmed the CMT1A duplication, but also revealed a 7.8-kb fragment usually observed in patients with a hereditary neuropathy with liability to pressure palsies (HNPP). Both fragments observed in one patient canot result from one unequal crossover. In EcoRI/SacI Southern hybridization experiments with probe pLR7.8 DNA of his healthy parents also revealed a 7.8-kB restriction fragment. A subsequent two-color FISH analysis, however, indicated a normal status for interphase nuclei of the parents. Hence we hypothesize that the 7.8-kb fragment observed in our patient and his parents is not the product of unequal crossover during meiosis but due to a polymorphism of the SacI site in a proximal CMT1A-REP element.

Adult↗
PubMed1996

A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease.

A novel T-->G mutation in exon 4 of the PMP22 gene was identified heterozygously in a girl with severe, de novo CMT1A disease. Duplication of the chromosomal 17p11-12 region, encompassing the PMP22 gene, was ruled out. This is the only known mutation that specifically affects the human fourth transmembrane (TM) domain of PMP22. It results in a substitution of a non-polar amino acid by a polar one (Leu147-->Arg), similar to the nearby Gly150-->Asp substitution, underlying the severe Trembler phenotype in the mouse. These mutations suggest that the fourth TM domain plays a crucial role in the normal function of PMP22. The new mutation also augments previous observations that diseases caused by mutations in PMP22 are more severe than those caused by the duplication of 17p11-12.

Amino Acid Sequence↗
PubMed2000

The pathogenesis and surgical management of foot deformity in Charcot-Marie-Tooth disease.

The foot deformities in CMT follow certain general patterns; however, like the underlying motor failures that cause them, the deformities present in each patient are unique, and care must be individualized. There is no simple algorithm that can be applied to all patients. The hindfoot, forefoot, and toe deformities in CMT all ultimately are interconnected. As a general rule, it makes sense to address the plantar fascia, then proceed from the hindfoot to the forefoot in analyzing the deformities and in surgery. Releasing the plantar fascia may alter the amount of bony correction required in any concomitant hindfoot procedure. Likewise, only after the heel is realigned can any residual forefoot valgus be assessed, and a hindfoot procedure may alter the resting tension of the digital flexors and extensors. Finally, if a patient has purely dynamic clawtoes preoperatively, the toes may appear perfectly normal in the operating room with the ankle plantar flexed. Tightness of the flexor digitorum longus should be elicited by bringing the ankle up to neutral as a final check. The variety of foot deformities in CMT present a unique challenge to the orthopedic foot and ankle surgeon. It is vital for the patient and physician to remember that CMT is an inexorably progressive disease, and an initially good result can deteriorate with changing motor function. With meticulous attention to the neurologic examination and the balance of supple and fixed deformities in the foot, very satisfying outcomes usually can be obtained.

Charcot-Marie-Tooth Disease↗
PubMed1996

Vincristine treatment triggering the expression of asymptomatic Charcot-Marie-Tooth disease.

A 16-year-old male suffering from Ewing's sarcoma of the pelvis was treated with vincristine as part of his chemotherapeutic protocol. The boy was never known to suffer from any neurological problems. His father had a mild limp, attributed to prolonged "taxi driving," that was never investigated medically. The first course of treatment, which included 2 mg of vincristine, resulted in clinical improvement. However, at the same time the patient developed severe weakness of both upper and lower limbs, areflexia, and gradually a pes cavus deformity. Nerve conduction studies were suggestive of severe peripheral sensorimotor neuropathy, axonal and demyelinative. A definite diagnosis of Charcot-Marie-Tooth was confirmed by molecular analysis showing the typical duplication of 1.5 megabases at 17 p11.2. This unique manifestation of vincristine neurotoxicity is reported and discussed.

Adolescent↗