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At least 1,207 records · Page 67Linked to original sources
PubMed2004

Malignant autosomal recessive osteopetrosis caused by spontaneous mutation of murine Rank.

UNLABELLED: We report the first case of lethal autosomal recessive osteopetrosis in mice caused by a spontaneous 8-bp deletion in exon 2 of the Rank gene. The phenotype, including a block in RANKL-dependent osteoclast differentiation and lymph node agenesis, copies that of Rank(-/-) mice, which have been produced by targeted recombination. INTRODUCTION: Commitment of osteoclast progenitors to the osteoclast lineage requires RANKL/RANK-mediated intercellular signals. Gene-targeted defects in this signaling pathway resulted in osteoclast deficiency and severe osteopetrosis in mice, but to date, there have been no reports of spontaneous mutations in Rankl or Rank resulting in osteopetrosis. MATERIALS AND METHODS: Mice with malignant osteopetrosis and absent lymph nodes appeared spontaneously in a highly inbred colony. Appropriate crosses were analyzed to establish the pattern of inheritance. Tissues from affected pups and littermates were evaluated grossly, histopathologically, and radiographically. Osteoclast development from splenocytes was tested in vitro under a variety of conditions, including after infection with RANK-encoding retrovirus. Rank mutational analysis was performed by direct sequencing of RT-PCR products and genomic DNA. RESULTS: The inheritance pattern was consistent with autosomal recessive inheritance, and the phenotype resembled that of either Rankl or Rank knockout mice with the exception of as yet unexplained death of most mice 2-3 weeks after weaning. Osteoclast precursors from the spleens of affected pups failed to form osteoclasts in vitro when stimulated with macrophage-colony stimulating factor (M-CSF) and RANKL, unless they were forced to express wildtype Rank cDNA. Molecular genetic studies identified an 8-bp deletion in exon 2 of the Rank gene. The resulting allele, termed Rank(del8), encodes only a small portion of the RANK extracellular domain, which is probably nonfunctional. CONCLUSIONS: The phenotypic similarities between Rank(del8) and mice previously described with a combined insertion and deletion in Rank confirm the role of this receptor in osteoclastogenesis and lymph node development and suggest that some forms of malignant osteopetrosis in humans could result from a similar defect.

Animals↗
PubMed2003

Two novel aquaporin-2 mutations in a sporadic Japanese patient with autosomal recessive nephrogenic diabetes insipidus.

We identified two novel mutations of the aquaporin-2 (AQP2) gene in a sporadic Japanese patient diagnosed with an autosomal recessive nephrogenic diabetes insipidus (NDI). The patient, a Japanese boy, was referred to our clinic at the age of 5 months because of unexplained recurrent fever. He was diagnosed with NDI by clinical, biochemical and endocrine findings. Molecular analysis demonstrated that he was a compound heterozygote for two mutations. One mutation consisted of a two base deletion in exon 1 (197, 198 delCA). This deletion caused a frameshift in the open reading frame, resulting in a premature stop codon 186 bases downstream in exon 1. The second mutation was a G to A transition of the terminal exon splice site (1502-1G-->A). To date, several mutations in the AQP2 gene have been described, however no splicing mutation in the AQP2 gene has been identified. The deletion mutation described in this case study was inherited patemally and the splicing site mutation was inherited maternally, indicating an autosomal recessive inheritance. In the present case study, we identified two new mutations in the AQP-2 gene. Previous studies have shown that there is no hot spot for mutations in the AQP-2 gene, and thus genetic analysis for individual patients is helpful for genetic counseling and early diagnosis.

Adenine↗
PubMed1999

Subclinical audiological findings in carriers of recessive genes for deafness.

The existence of subclinical signs in the hearing of carriers of recessive mutations for deafness has aroused much controversy in the literature. The present study comprised 30 carriers of recessive mutations for deafness, and a control group of 30 healthy volunteers, matched for gender and age. All participants underwent a series of hearing tests, including pure-tone audiometry, speech tests, Bekesy audiometry and notch noise tests. The main results were: hearing loss in high frequencies (3000 and 4000 Hz), an elevation of the acoustic reflex threshold, as well as an elevation of the identification of 2000 Hz pure tone in the presence of white noise and notch noise. A notch in the Bekesy audiogram was also identified in several carriers. An interaction was found between gender and the carrier trait in the hearing threshold at 4000 Hz, and in the ipsi- and contralateral acoustic reflex at 500 Hz and 1000 Hz. These subclinical signs may be complementary to DNA research in the investigation of genetic deafness of unknown origin.

Adult↗
PubMed1994

Detection of the homozygous recessive genotype for deficiency of uridine monophosphate synthase by DNA typing among bovine embryos produced in vitro.

A PCR-based DNA test for the genetic defect resulting in the deficiency of uridine monophosphate synthase (DUMPS) was developed for embryonic cells to identify the homozygous recessive genotype. This genotype is usually lethal at about day 40 of gestation. Oocytes from a cow, heterozygous for DUMPS, were fertilized in vitro with spermatozoa from a DUMPS-carrier bull and cultured in vitro until the morula or blastocyst stage. Embryos were matured in vitro, fertilized and cultured according to a method established in our laboratory. Heminested PCR was performed and the genotype of twelve embryos were unambiguously determined by the Aval digestion of the PCR products. Among these embryos two individuals homozygous for the defective DUMPS allele (R405-->STOP) were detected. From the remaining ten embryos, four were homozygous and six were heterozygous for the normal allele. The observed distribution is close to the expected ratio of 1:2:1. These results further support the monogenic recessive inheritance of the defect.

Animals↗
PubMed2005

Unique cerebellar-cerebral form of autosomal recessive ataxia.

We describe a unique condition affecting two siblings with a form of progressive spinocerebellar ataxia. After a period of very slowly progressive ataxia, the patients developed an extremely accelerated progression of the condition which consisted of cerebellar ataxia, seizure, progressive dementia and spastic tetraparesis. Age of onset was variable at 7 to 18 years. Brain magnetic resonance image (MRI) showed marked atrophy of the cerebellum and cerebrum with strikingly preserved brainstem dimensions. Biochemical or molecular genetic analysis was performed in an elder sister and her parents to exclude known forms of familial spinocerebellar ataxia, dentatorubral-pallidoluysian atrophy (DRPLA), progressive myoclonic epilepsy, and some metabolic disorders which could have a similar phenotype. The mode of inheritance appears to be autosomal recessive. We think that the affected siblings may have a new type of autosomal recessive cerebellar ataxia.

Adolescent↗
PubMed2006

Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system.

Renal tubular dysgenesis is a clinical disorder that is observed in fetuses and characterized by the absence or poor development of proximal tubules, early onset and persistent oligohydramnios that leads to the Potter sequence, and skull ossification defects. It may be acquired during fetal development or inherited as an autosomal recessive disease. It was shown recently that autosomal recessive renal tubular dysgenesis is genetically heterogeneous and linked to mutations in the genes that encode components of the renin-angiotensin system. This study analyzed the clinical expression of the disease in 29 fetus/neonates from 18 unrelated families and evaluated changes in renal morphology and expression of the renin-angiotensin system. The disease was uniformly severe, with perinatal death in all cases as a result of persistent anuria and hypoxia related to pulmonary hypoplasia. Severe defects in proximal tubules were observed in all fetuses from 18 gestational weeks onward, and lesions also involved other tubular segments. They were associated with thickening of the renal arterial vasculature, from the arcuate to the afferent arteries. Renal renin expression was strikingly increased in 19 of 24 patients studied, from 13 families, whereas no renal renin was detected in four patients from three families. Angiotensinogen and angiotensin-converting enzyme were absent or present in only small amounts in the proximal tubule, in correlation with the severity of tubular abnormalities. No specific changes were detected in angiotensin II receptor expression. The severity and the early onset of the clinical and pathologic expression of the disease underline the major importance of this system in fetal kidney function and development in humans. The identification of the disease on the basis of precise histologic analysis and the research of the genetic defect now allow genetic counseling and early prenatal diagnosis.

Anuria↗
PubMed2000

New rat model that phenotypically resembles autosomal recessive polycystic kidney disease.

Numerous murine models of polycystic kidney disease (PKD) have been described. While mouse models are particularly well suited for investigating the molecular pathogenesis of PKD, rats are well established as an experimental model of renal physiologic processes. Han:SPRD-CY: rats have been proposed as a model for human autosomal dominant PKD. A new spontaneous rat mutation, designated wpk, has now been identified. In the mutants, the renal cystic phenotype resembles human autosomal recessive PKD (ARPKD). This study was designed to characterize the clinical and histopathologic features of wpk/wpk mutants and to map the wpk locus. Homozygous mutants developed nephromegaly, hypertension, proteinuria, impaired urine-concentrating capacity, and uremia, resulting in death at 4 wk of age. Early cysts were present in the nephrogenic zone at embryonic day 19. These were localized, by specific staining and electron microscopy, to differentiated proximal tubules, thick limbs, distal tubules, and collecting ducts. In later stages, the cysts were largely confined to collecting ducts. Although the renal histopathologic features are strikingly similar to those of human ARPKD, wpk/wpk mutants exhibited no evidence of biliary tract abnormalities. The wpk locus maps just proximal to the CY: locus on rat chromosome 5, and complementation studies demonstrated that these loci are not allelic. It is concluded that the clinical and renal histopathologic features of this new rat model strongly resemble those of human ARPKD. Although homology mapping indicates that rat wpk and human ARPKD involve distinct genes, this new rat mutation provides an excellent experimental model to study the molecular pathogenesis and renal pathophysiologic features of recessive PKD.

Animals↗
PubMed2003

Use of acellular dermal matrix graft in the treatment of gingival recessions: a case report.

Case presentation in which a 12-years-old boy presented with two large gingival recessions on the maxillary central incisors, secondary to a lateral luxation. In the surgical procedure, an acellular dermal matrix graft (ADMG) was placed as a substitute for a free gingival graft. Twelve months later, complete root coverage was achieved, showing that ADMG, a biomaterial recently developed for mucogingival surgery, can be successfully used in the treatment of gingival recessions in pediatric patients.

Bicycling↗
PubMedDate not supplied

Idiopathic asymptomatic thrombocytopenia in Cavalier King Charles Spaniels is an autosomal recessive trait.

Cavalier King Charles Spaniels (CKCS) often have idiopathic asymptomatic thrombocytopenia. In affected dogs, the thrombocytes often are large, and it has been speculated that the condition could be an inherited macrothrombocytopenia. The aim of this study was to examine the inheritance of idiopathic, asymptomatic thrombocytopenia in CKCS. Sixteen families (both parents and > or = 3 offspring) of privately owned CKCS were included. There were 105 clinically healthy dogs (50 from Denmark and 55 from Sweden): 81 offspring and 26 parents (2 dogs had both roles). Because autoanalyzers have difficulty counting large platelets, the platelets were counted manually, with a counting chamber. Platelet counts were not influenced by age, gender, or heart murmur status. Thrombocytopenia (< or = 100,000 platelets/microL) was found in 46% of the parents. The pedigrees indicated that thrombocytopenia segregated as an autosomal recessive trait and that 100,000 platelets/microL was appropriate as a lower limit of normal. Affected offspring were found in all families, showing that all of the included parents were at least carriers. Therefore, the expected segregation ratios (which were in good accordance with the observed ones) were 1:0, 1:1, and 1:3 for the 3 crosses: affected x affected, normal x affected, and normal x normal. Within a given cross, the mean parental platelet count had no influence on the platelet counts of the offspring. We conclude that idiopathic, asymptomatic thrombocytopenia in CKCS is inherited in an autosomal recessive manner. The condition most likely constitutes an inherited macrothrombocytopenia in dogs.

Animals↗
PubMed1985

Effects of citric acid treatment on pedicle flap coverage of localized recession.

Citric acid conditioning of denuded roots prior to laterally positioned pedicle flap (LPPF) coverage may increase the likelihood of reattachment, but no controlled studies to determine the efficacy of the procedure in managing naturally occurring defects in humans have been reported. This investigation compared the effects of LPPF root coverage with and without citric acid (pH1) pretreatment in a group of patients with gingival recession and associated denuded roots. Thirty-six patients participated in the study. Eighteen received LPPFs without citric acid pretreatment and 18 received LPPFs with citric acid pretreatment. Gingival recession and sulcus depth were measured preoperatively and 30, 60 and 90 days after the surgical procedure. LPPFs both with and without citric acid pretreatment reduced significantly the amount of exposed root, but no differences between groups were found. For sulcus depth, the 90-day value for the citric acid group was significantly increased over the preoperative level, but no other changes were noted. There appears to be no clinical justification for using citric acid conditioning as an adjunct to LPPF coverage of denuded roots.

Adult↗
PubMed1996

The free rotated papilla autograft: a new bilaminar grafting procedure for the coverage of multiple shallow gingival recessions.

The aim of this clinical pilot study is to evaluate the possibility and from a statistical point of view, the predictability of a new mucogingival technique. The purpose of this surgical procedure is to cover the exposed buccal root surface with less than 5 mm clinical probing attachment loss either in corono-apical or mesio-distal aspects. This surgical procedure is particularly indicated in either single or multiple gingival recessions with perfectly preserved mesial and distal interproximal osseous crests, and with a papillary dimension not inferior to the defect which needs to be treated. A sharp incision is performed at a 90 degrees angle to the vestibule, following the mucogingival line. A sharp dissection is accomplished to create a partial thickness envelope flap on the underlying alveolar mucosa. The epithelium from the facial aspect of the papilla is debrided with a full thickness approach, the facial papillary tissue is removed from the underlying tissue bed. The papilla is then reversed in such a way that the base of the papilla is at the cemento-enamel junction (CEJ) and the apex is at the base of the gingival recession area. The papilla is then sutured in place and completely covered by a coronally displaced partial thickness flap. The results obtained either as root coverage, or as an aesthetic result, may be considered positive. This procedure has the decided advantage of a single surgical site, avoiding any palatal patient discomfort, good color compatibility with adjacent tissue, and healing by primary intention.

Adult↗
PubMed1997

Cocaine-associated rapid gingival recession and dental erosion. A case report.

This case report chronicles the clinical presentation and unusual response to treatment of a patient with rapid gingival recession and dental erosion secondary to local cocaine application. The initial clinical diagnosis was necrotizing ulcerative periodontitis; only after several years of therapy did the patient voluntarily inform one of the therapists that cocaine had been regularly applied to the affected gingival sites. This case illustrates the importance of including cocaine application to gingival tissues in a differential diagnosis in cases of rapid gingival recession and dental erosion of unknown etiology.

Administration, Topical↗
PubMed1999

Improvement of multiple facial gingival recession by non-surgical and supportive periodontal therapy: a case report.

We report a case of multiple facial gingival recession which was improved by non-surgical and supportive periodontal therapy. The patient, a 28-year-old Japanese woman, presented for treatment of multiple facial gingival recession ranging from 1 to 4 mm on teeth 5 through 12 and 19 through 30. Periodontal plastic surgery to cover the exposed multiple root surfaces was suggested. However, because of emotional problems, the patient did not wish to undergo the procedures and instead accepted non-surgical periodontal therapy including oral hygiene instruction, scaling, and root planing. The exposed root sites were monitored at periodic maintenance visits, and gradual improvement through a coronal increase of the gingival margin was noted. The possible etiologic factors and healing process associated with this case are discussed.

Adult↗
PubMed2000

Guided tissue regeneration with a bioabsorbable polylactic acid membrane in gingival recessions. A histometric study in dogs.

BACKGROUND: The goal of this investigation was to histologically and histometrically evaluate the healing process of gingival recessions treated by guided tissue regeneration with bioabsorbable polylactic acid membranes (GTR group) and to compare it to that obtained with coronally positioned flaps (CPF group). METHODS: Gingival recessions were surgically created on the buccal aspect of the upper cuspids of 5 mongrel dogs. The defects (5x7 mm) were exposed to plaque accumulation for 3 months. The contralateral defects were then randomly assigned to each group. After 3 months of healing, the dogs were sacrificed and the blocks were processed. The histometric parameters evaluated included length of sulcular and junctional epithelium, connective tissue adaptation, new cementum, new bone, and defect coverage. RESULTS: The extension of the epithelium was 1.9 +/- 0.8 mm for the GTR-group and 3.0 +/- 0.9 mm for the CPF-group (P = 0.16). The connective tissue adaptation was 0.1 +/- 0.1 and 0.8 +/- 0.5 mm in the GTR group and CPF group, respectively (P = 0.051). The new cementum was 3.8 +/- 1.5 mm and 2.4 +/- 0.3 mm in the GTR group and CPF group, respectively (P= 0.16). Bone formation was 1.1 +/- 0.5 mm in the GTR group and 1.4 +/- 0.2 mm in the CPF group (P = 0.53). Histologically, the defect coverage observed was similar, 90.5% and 91.9% for the GTR group and the CPF group, respectively. No statistical differences in any of the parameters could be detected. CONCLUSIONS: Within the limits of this study, it can be concluded that both procedures resulted in a favorable healing response with no significant difference between the treatments.

Absorbable Implants↗
PubMed2000

Severe gingival recession in trisomy 18 primary dentition. A clinicopathologic case report of self-inflicted injury associated with mental retardation.

This clinicopathologic case report documents severe gingival recession in the primary dentition of a trisomy 18 patient. Primary molar and canine teeth exhibited recession extending beyond the midpoint of the buccal aspect of the root, occasionally reaching the root apex. Radiographic examination revealed taurodontism in both primary and permanent teeth. Clinical and histopathologic findings, along with case history, eliminated the possibility of prepubertal periodontitis and suggested a diagnosis of self-inflicted injury associated with mental retardation. Histologic examination of the primary teeth revealed normal cementum and dentin structure. Taurodontism, histologic structure of the dentition, and severe attachment loss in the primary dentition have not been described previously in trisomy 18.

Abnormalities, Multiple↗
PubMed2000

Gingival recession treatment using a bilayer collagen membrane.

Traditional periodontal plastic surgery techniques for the management of gingival recession have typically used soft tissue grafts to obtain defect coverage with great clinical success. Clinicians using guided tissue regeneration (GTR) techniques are also enjoying significant success in periodontal plastic surgery procedures. GTR therapy utilizing bioabsorbable membranes offers the advantages of preventing a donor site surgery and a second surgical procedure for barrier removal. A new bioabsorbable bilayer collagen membrane that readily adapts to bone and tooth surfaces by a gel formation of collagen fibers and blood may be stabilized without sutures prior to soft tissue closure. This bioabsorbable membrane has been shown to be effective in guided bone regeneration procedures and in treating periodontal defects. This case demonstrates the treatment of gingival recession with a novel collagen bilayer membrane.

Absorbable Implants↗
PubMed1984

Waardenburg's recessive anophthalmia syndrome.

A family with a rare form of autosomal recessive anophthalmia, syndactyly and multiple congenital deformities is reported. The authors propose that this be recognized as a well defined autosomal recessive syndrome.

Abnormalities, Multiple↗
PubMed2003

Homozygous exon 4 deletion in parkin gene in a Korean family with autosomal recessive early onset parkinsonism.

The gene responsible for autosomal recessive parkinsonism, parkin, has recently been identified on chromosome 6q. It has been shown to be mutated in Japanese and European families, most of whom had early-onset parkinsonism. Here, we present a family with young-onset parkinsonism of an autosomal recessive inheritance. A homozygous exon 4 deletion in the parkin gene was found in 3 family members. To the best of the authors' knowledge, this is the first report in Korea of familial parkinsonism with the parkin gene mutation.

Exons↗