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PubMedDate not supplied

Co-existence of osteogenesis imperfecta and hyperparathyroidism.

Osteogenesis imperfecta (OI) and hyperparathyroidism (HTP) are disorders affecting the skeletal system and calcium metabolism not evidently related to one another. We report a case in which both OI and HPT were present. Our female patient presented with hypercalcaemia (S-Ca2+ 1.59 mmol/l; normal range 1.15-1.30) and 4-gland parathyroid hyperplasia at 30 years of age. Since her first year she had fractures, blue sclera, hypermobile joints, short stature (height 1.51 m, weight 49.5 kg) but normal hearing, and dentiogenesis imperfecta (tooth disease caused by defective formation of dentin) was absent. This patient bears many similarities with the 5 patients reported previously but it is the only patient, to our knowledge, with OI and early onset of HPT (30 year old female). We have found the OI to be type 1. A minor improvement of the rate of bone turnover 10 months after parathyroidectomy indicates the HPT to be primary and suggests the OI type 1 and pHPT to be two different calcium metabolic diseases incidentally occurring in the same patient.

Adult↗
PubMed1999

[The Charcot joint].

Charcot foot in its original sense is equivalent to stage 4 of hereditary motor and sensory neuropathy (HMSN) which is known as Charcot-Marie-Tooth disease since 1886. This entity, which can be subdivided into 3 groups including subgroups, predominantly begins during childhood and progresses slowly. The first symptom, often unnoticed by the patient for a long period, is weakness of the intrinsic foot muscles with consecutive hammer-toe formation and mobile pes cavus. Progredient atrophy of the peroneal, extensor, tibialis posterior and finally triceps surae muscles leads to fixed pes cavus varus excavatus with severe varus deformity of the hindfoot, secondary varus position of the talus at the ankle level and subsequent arthrosis of the medial compartment. Permanent varus deformity of the ankle almost invariably leads to stress fractures of the malleoli because of repetitive microtrauma (stage 5 of HMSN). Early detection of the disease with nerve conduction studies at clinical suspicion allows tibialis posterior transfer, correctional osteotomy of the hindfoot or arthrodesis of Chopart's or Lisfranc's joint and can postpone or prevent the otherwise inevitable triple arthrodesis which has a less favorable long-term prognosis. At stage 4 (manifest Charcot foot) and stage 5 (neuropathic fracture of the ankle) a reorientating ankle arthrodesis is advocated, with additional subtalar pathology correctional double arthrodesis becomes necessary. In diabetic arthropathy of the ankle (Type IV according to Sanders and Frykberg), which is often referred to as "Charcot Ankle", tibiocalcanear arthrodesis is indicated. In case of supervening infection or extensive necrosis a modified Pirogoff amputation is carried out as a salvage procedure. Doubled periods of non weight-bearing, immobilization and brace protection of the ankle help to reduce the frequently observed implant failure in both forms of osteoarthropathy. In addition to stable implants retrograde calcaneotalotibial transfixation with a Steinmann pin may help to protect the achieved result despite prolonged bone consolidation.

Adult↗
PubMed1999

Daytime somnolence in myotonic dystrophy.

Somnolence in myotonic dystrophy (DM) has not been measured using a reliable daytime somnolence scale. The aim of this study was to compare somnolence in DM patients with healthy controls and Charcot-Marie-Tooth disease (CMT) patients using such a scale and to compare this with potential contributory factors. We investigated 35 subjects with adult-onset DM, 16 healthy controls and 13 CMT controls. The Epworth Sleepiness Scale (ESS) was the principal measurement of daytime somnolence. Nocturnal sleep was assessed using a sleep diary. Other assessments measured daytime respiratory function, cognitive function, motor impairment, disability, swallowing capacity and depression. DM and CMT patients had greater daytime sleepiness than unaffected controls. In the DM group significant correlations were found between somnolence and measures of disability, sleep quality and some measures of depression. It was concluded that there is an abnormal level of daytime somnolence in DM, which is partially associated with disability.

Adult↗
PubMed2001

Class V lesions restored with four different tooth-colored materials--3-year results.

The aim of this study was to compare the treatment results using four different types of tooth colored materials for restoring class V lesions. A total of 197 class V restorations (n = 197) were placed by one dentist in 37 patients on incisors, canines and premolars. The fillings were placed due to different indications: erosion/non-carious cervical defects (n = 69), primary carious lesions (n = 57), and for replacing defective existing fillings (n = 71). The teeth were assigned on a random basis to four groups for restoration with either a composite (group 1: n = 36; Tetric, Vivadent), or a polyacid-modified resin composite (group 2: n = 79; Dyract, Dentsply), or one of two different resin-modified glass ionomer cements (group 3: n = 51, Fuji II LC,GC; group 4: n = 31, Photac-Fil, Espe). The restorations were evaluated by a single-blind design, according to a modified USPHS system 36 months following placement. Statistical analysis was completed with the Pearson Chi-square test for comparing the results of the four groups (P < 0.05). Additionally, the survival rates were analyzed with the Kaplan-Meier estimator and the Log-rank test (P < 0.05). The Alpha ratings were as follows (Tetric/Dyract/Fuji II LC/Photac Fil): shade match (86%/77%/58%/40%), surface texture (81%/83%/16%/9%), marginal integrity (enamel) (73%/67%/61%/61%), marginal integrity (dentin) (86%/70%/55%/61%), marginal discoloration (enamel) (59%/44%/58%/52%), marginal discoloration (dentin) (82%/84%/71%/48%), anatomic contours (91%/83%/39%/35%). One Tetric restoration, five Dyract restorations, two Fuji II LC restorations and three Photac restorations were dislodged within the study period. The retention of the restorations showed no significant difference among the four materials. However, the clinical performance of the restorations retained over the 3-year period showed distinct differences for the four materials. The best clinical performance was observed for the resin composite, whereas the quality of the Dyract restorations without enamel etching was worse. The poorest results were obtained for the restorations with the resin-modified glass ionomers.

Adult↗
PubMed2005

Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy.

Heat shock protein 27 (HSP27) belongs to a family of small heat shock proteins that play significant roles in the cellular stress response and are also involved in the control of protein-protein interactions as chaperons. Mutation in HSP27 has been identified as the cause of axonal Charcot-Marie-Tooth disease (CMT) and distal hereditary motor neuropathy (HMN). Heat shock protein 22 (HSP22) is a molecular counterpart of HSP27, and its mutation is another cause of distal HMN. We screened the mutation of HSP27 and HSP22 in 68 Japanese patients with axonal CMT or unclassified CMT and six Japanese patients with distal HMN. We detected a heterozygous P182S mutation of HSP27 in a patient with distal HMN, but we found no mutations in HSP22. Mutation in HSP27 may impair the formation of the stable neurofilament network that is indispensable for the maintenance of peripheral nerves.

Adolescent↗
PubMed2006

A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay.

Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are caused by a 1.5-Mb duplication and a deletion at chromosome 17p11.2-12 encompassing the peripheral myelin protein 22 gene (PMP22), respectively. We developed a rapid and reliable detection system for duplications/deletions of the PMP22 gene based on measurement of gene copy number. The method involves amplification of a test locus with unknown copy number and a reference locus of known copy number by multiplex PCR (MP), followed by denaturing high-performance liquid chromatography (DHPLC) or capillary electrophoresis detection to identify single copy changes. Thirty-two patients with CMT1A, 17 patients with HNPP, and 61 unaffected individuals were analyzed. Using the same competitive MP protocol, the measured PMP22 gene dosage revealed concordant results between DHPLC and capillary electrophoresis analysis. The results of the MP/DHPLC or the MP/capillary electrophoresis assay were all confirmed by PCR-restriction fragment length polymorphism analysis. We concluded that the MP/DHPLC assay is an efficient, accurate, and reliable technique for gene dosage determination of the PMP22 gene for CMT1A duplication and HNPP deletion. This technique further extends the application of DHPLC as an alternative method for the measurement of gene amplifications and heterozygous deletions in different genetic diseases.

Base Sequence↗
PubMed2002

Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies.

EGR2/Krox-20, a Cys2-His2 zinc finger transcription factor, plays an essential role in the regulation of myelination in the peripheral nervous system. Dominant and recessive mutations in EGR2 are associated with peripheral myelinopathies, such as Charcot-Marie-Tooth disease type 1, Dejerine-Sottas syndrome, and congenital hypomyelinating neuropathy. One recessive mutation (I268N) is known to affect the inhibitory domain that binds the NAB transcriptional corepressors, NAB1 and NAB2. This mutation abolishes the interaction of EGR2 with the NAB corepressors and thereby increases transcriptional activity. Therefore, we hypothesized that mutations in the EGR2-interacting domains of NAB1 and NAB2 might be associated with the pathogenesis of inherited peripheral neuropathies in currently unexplained cases. However, screening 87 such cases failed to identify any disease-causing mutations within the EGR2-interacting domains of either NAB1 or NAB2. A further mutation analysis of the complete coding regions of NAB1 and NAB2 in these genomic DNA samples did not uncover any disease-causing mutation. Therefore, our analysis indicates that mutations in the human NABI and NAB2 genes are most likely not involved in the pathogenesis of peripheral neuropathies.

DNA Mutational Analysis↗
PubMed2001

EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy.

Heterozygous mutations in the early growth response gene 2 (EGR2), which encodes a zinc-finger transcription factor that regulates the late stages of myelination, cause myelinopathies including congenital hypomyelinating neuropathy, Dejerine-Sottas neuropathy (DSN), and Charcot-Marie-Tooth disease type 1. We screened 170 unrelated neuropathy patients without mutations involving the peripheral myelin protein 22 gene (PMP22), the myelin protein zero gene (MPZ), or the gap junction protein beta1 gene (GJB1) and identified two DSN patients with the heterozygous mutation R359W in the alpha-helix domain of the first zinc-finger of EGR2. We now report that this mutation is a recurrent cause of DSN, and that expressivity ranges from that typical for DSN to a more rapidly progressive neuropathy that can cause death by age 6 years. Furthermore, in contrast to patients with typical DSN, patients with the EGR2 R359W mutation have more respiratory compromise and cranial nerve involvement.

Amino Acid Substitution↗
PubMed2001

A molecular basis for hereditary motor and sensory neuropathy disorders.

Charcot-Marie-Tooth disease (CMT), or inherited peripheral neuropathies, is one of the most frequent genetically inherited neurologic disorders, with a prevalence of approximately one in 2500 people. CMT is usually inherited in an autosomal dominant fashion, although X-linked and recessive forms of CMT also exist. Over the past several years, considerable progress has been made toward understanding the genetic causes of many of the most frequent forms of CMT, particularly those caused by mutations in Schwann cell genes inducing the demyelinating forms of CMT, also known as CMT1. Because the genetic cause of these disorders is known, it is now possible to study how mutations in genes encoding myelin proteins cause neuropathy. Identifying these mechanisms will be important both for understanding demyelination and for developing future treatments for CMT.

Amino Acid Sequence↗