Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Recurrent variant”

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 271 records · Page 15Linked to original sources
PubMed2005

Recurrence and bleeding in hibernomas.

UNLABELLED: Hibernomas are rare, benign, soft tissue tumors of brown fat. Despite being benign, we have experienced recurrent hibernomas and cases of significant bleeding at our institution. The current literature contains case reports of recurrence, and one large series that describes pathologic variants but contains little clinical data. We could not find data on bleeding. We hypothesized that recurrence is related to the resection type and/or the pathologic variant. We also postulated that atypical histologic findings correlate with excessive bleeding during excision. We sought to confirm that the MRI features of hibernomas could distinguish them from lipomas yet place them among lipomatous tumors. We retrospectively reviewed all hibernomas at our institution over 10 years. There were six hibernomas. Two were removed with a marginal excision and four with an intralesional excision. Two recurred after intralesional surgery. Histologic findings were typical for all patients. An MRI was available on only one patient and showed a fatty tumor that was distinguishable from a lipoma. Recurrences occurred after intralesional but not after marginal excisions. Histology could not predict recurrence. Hibernomas have the potential for significant bleeding during surgical excision, as seen in two of our cases. LEVEL OF EVIDENCE: Prognostic study, Level IV (case series). See the Guidelines for Authors for a complete description of levels of evidence.

Adolescent↗
PubMed2004

Recurrent Miller Fisher syndrome.

Miller Fisher syndrome (MFS) is a variant of Guillan Barre syndrome characterized by the triad of ophthalmoplegia, ataxia and areflexia. Recurrences are exceptional with Miller Fisher syndrome. We are reporting a case with two episodes of MFS within two years. Initially he presented with partial ophthalmoplegia, ataxia. Second episode was characterized by full-blown presentation characterized by ataxia, areflexia and ophthalmoplegia. CSF analysis was typical during both episodes. Nerve conduction velocity study was fairly within normal limits. MRI of brain was within normal limits. He responded to symptomatic measures initially, then to steroids in the second episode. We are reporting the case due to its rarity.

Adult↗
PubMed2004

[Non-recurrent inferior laryngeal nerve: anatomy, frequency and surgical considerations].

AIM: Systematic exposure and isolation of the inferior laryngeal nerve in thyroid surgery is a secure method to prevent complications. The knowledge of the nerve anatomy and its anomalies is essential to reduce laryngeal nerve injuries. By a re-examination of literature we underline the importance and some particular anatomical aspects of the anomalies which, even if rare, present an incidence of about 1%. METHODS: From January 1995 to December 2002 in our hospital we performed 299 interventions for thyroid diseases: total thyroidectomy (254 cases), partial thyroidectomy (45 cases). In 2 cases we observed a high variant (type I) of non recurrent laryngeal nerve. RESULTS: The global incidence of non recurrent laryngeal nerve was 0.66% (2/299 operations) and 0.72% if we consider the explorations of the cervical right side (2/274) where this anomaly is more frequent. The incidence of nerve injuries was 2/299 (0,66%); we had no complications in the 2 cases of non recurrent nerve observed. CONCLUSIONS: Our experience in thyroid surgery confirms the common opinion that only the knowledge of the laryngeal nerve anatomy and the awareness of its anomalies, associated to the systematic exposure of the nerve during surgery can prevent surgical injuries.

Humans↗
PubMed1988

Papillon-Lefèvre syndrome: a study of the long-term clinical course of recurrent pyogenic infections and the effects of etretinate treatment.

A family with a clinical variant of Papillon-Lefèvre syndrome (PLS), associated with recurrent pyogenic infections, has been followed up for more than 20 years. Of the five living siblings, four were treated with etretinate for a period of at least 21 consecutive months. Clinical follow-up showed that the course of recurrent infections in susceptible PLS patients, although usually more severe in childhood, can be variable and unpredictable. The etretinate therapy resulted in marked improvement of the keratodermas, and was associated with complete remission of the pyodermas on both keratotic and non-keratotic skin. It is, therefore, suggested that etretinate may have a primary role in the prevention of recurrent pyogenic infections in susceptible PLS patients.

Adult↗
PubMed2001

[Neurostimulation of the recurrent laryngeal nerve--a routine method in thyroid gland surgery?].

INTRODUCTION: Thyroid operations belong to the most frequent procedures in Germany (100,000/year). An important quality parameter is the incidence of postoperative recurrent nerve paralysis. Intraoperative identification by visualization of the nerve with a paralysis rate of 1% is the present gold standard in dedicated centers. PROBLEM: Can this results be further improved by use of an intraoperative neuromonitoring system (NM). RESULTS: The use of NM is helpful in difficult situations (recurrent goiter, advanced carcinoma, anatomic variants), but a quality improvement is not yet proven. CONCLUSION: NM can not replace the current nerve identification by meticulous preparation of anatomic structures. It should be used at the discretion of the operative surgeon.

Electrodiagnosis↗
PubMed1985

Heterochromatic chromosome variation and reproductive failure.

The literature on the association of heterochromatic chromosome variants and reproductive failure, manifesting as infertility or recurrent spontaneous abortion, is critically reviewed. Many methodological problems confound attempts to interpret the data. The weight of evidence is against autosomal variants having any significant effect. Although conflicting, reports on the effect of Y heterochromatin variants on both infertility (Yq-) and recurrent abortion (Yq+) are mainly positive, and further data are required in both these areas.

Abortion, Habitual↗
PubMed1996

Infantile fibrosarcoma: complete excision is the appropriate treatment.

BACKGROUND: Infantile fibrosarcoma and its pathological variants are unusual childhood tumors. During the past 25 years, 18 children with these lesions were seen at our institution. METHODS: These patients' records were analyzed to determine clinical and pathological findings and outcome. RESULTS: The mean age at diagnosis was 7 months. There were 16 boys and 2 girls. The sites of tumor at presentation were: Extremity, head, trunk, and pelvis. Pathological findings were: fibrosarcoma, myofibroma, and fibromatosis. Histologic characteristics varied from benign hypocellular to more cellular pleomorphism. The initial surgical procedure was a complete excision in 16. Of those patients with complete removal, 6 recurred and all had secondary reexcision. In addition to excision, 3 patients received adjunctive therapy; chemotherapy in all 3 and radiation in 2. Sixteen (89%) children survived, including 4 of 6 with recurrent tumor and 2 of 2 with incomplete initial resection. Two children ages 6 and 9 months at diagnosis died of progressive recurrent tumor at 1 month and 6 years from initial diagnosis, despite operative therapy, chemotherapy, and radiation therapy. Both had paraspinal tumors that were removed completely. Pathological examination revealed spindle cell tumors infiltrating muscle. Neither clinical nor histologic findings distinguished surviving from nonsurviving patients. CONCLUSIONS: Fibrosarcoma occurring in infants has an excellent outcome despite histologic findings. Initial complete excision should be attempted in all children. Recurrence indicates a more aggressive variant and warrants more aggressive complete reexcision wherever possible. Adjunctive therapy probably has no benefit. The occasional death indicates the need for close follow-up.

Female↗
PubMed1994

Multiple recurrent benign schwannomas of deep and superficial nerves of the upper extremity: a new variant of segmental neurofibromatosis.

Benign schwannomas of the brachial plexus are uncommon tumors, first described in the late 19th century. These lesions, which are histologically benign, can generally be excised without sacrifice of neural elements. We present the first known case of multiple concurrent and recurrent benign schwannomas of the upper extremity in an individual who demonstrated no other evidence of neurofibromatosis, and we suggest that this case may represent a new subtype of type V neurofibromatosis.

Adult↗
PubMed1998

[High frequency current catheter ablation of accessory conduction pathways].

Radiofrequency catheter ablation has established as the first line therapy for the curative treatment of patients with accessory pathway. Atrioventricular accessory pathways irrespective of the exact localisation can be successfully ablated in more than 90% of all cases. Severe complications associated with the ablation procedure are rare and occur in approximately 2% of patients treated. The recurrence rate after successful ablation is approximately 8 to 10%. Recurrence of accessory pathway conduction occurs almost exclusively within the first 3 months following successful ablation, late recurrences are rare. Patients with variants of accessory pathways such as atriofascicular pathways or retrogradely conducting accessory pathways with decremental conduction properties can also be cured with a high success rate. Because of its well balanced efficacy-risk profile radiofrequency catheter ablation should be recommended as the first line therapy to all symptomatic patients with accessory pathway.

Atrioventricular Node↗
PubMed1996

Immunohistochemical detection of adhesion molecule CD44 splice variants in lymph node metastases of cervical cancer.

Expression of specific cell adhesion molecule CD44 isoforms (splice variants) has been shown to be associated with poor prognosis in human cervical cancer. We used 3 different variant exon sequence-specific murine monoclonal antibodies (MAbs) to epitopes encoded by exons v5, v6 and v7-v8 of human variant CD44 to study the expression of CD44 splice variants in 35 primary squamous-cell carcinomas of the cervix and pelvic lymph node metastases by means of immunohistochemistry. Primary tumors showed expression of CD44 splice variants CD44v5, CD44v6 and CD44v7-8 in 93%, 73% and 33% of cases, respectively. Lymph node metastases expressed CD44v5, CD44v6 and CD44v7-8 in 83%, 53% and 21% of cases, respectively. Tumors with expression of CD44v6 in pelvic lymph node metastases showed metastatic spread to 2 or more pelvic lymph nodes significantly more often compared to patients without expression of splice variant CD44v6. Patients suffering from tumors with lymph node metastases expressing splice variant CD44v6 had a poorer recurrence-free survival compared to patients without CD44v6 expression in lymph node metastases, but this trend was not statistically significant. Expression of CD44 splice variants containing epitopes encoded by exon v6 in primary tumors and pelvic lymph node metastases of cervical cancer patients is consistent with a prominent role of CD44 in the process of metastasis formation.

Adult↗
PubMed2005

Clear cell meningioma: case report and review of the literature.

Clear cell meningioma (CCM) is a rare variant of meningioma. Only 17 cases have been previously reported in children. Although it has bland cytologic features, it has a higher rate of recurrence than does conventional meningioma. This variant has been reported in sites such as spinal/intradural (lumbar and thoracic), cerebellopontine angle, and supratentorial. The differential diagnosis of CCM includes microcystic meningioma, hemangioblastoma, and clear cell ependymoma. The characteristic histology and immunohistochemistry leads to the diagnosis. We present a case of a 7-year-old boy with a CCM of the cauda equina and a review of pediatric CCM.

Cauda Equina↗
PubMedDate not supplied

[Abortive and recurrent rabies in dogs intracerebrally infected with the rabies street virus].

In the experiments on dogs inoculated intracerebrally with the "paralytic rabies" variant of the "Yak" strain of street rabies virus we observed spontaneous recovery of 1 out of 5 sick animals. Rabies in this dog was verified by three isolations of the virus from the saliva during the disease and by an increase of antibody titres in the time course of to 6776. In another experiment, among 7 dogs developing rabies after intracerebral inoculation with the "convulsive rabies" variant of the virus one animal showed recurrent form of rabies. The diagnosis of rabies was confirmed by isolation of the virus from the saliva in primary disease as well as by virus isolation from the salivary glands and the brain of the dog dying with recurrent rabies.

Animals↗
PubMed1991

[A case of recurrent cranial neuropathy presenting as recurrent Tolosa-Hunt syndrome].

A 64-year-old woman, with history of hypertension and arteriosclerosis, developed left painful ophthalmoplegia in July, 1988. Neurological examination proved abnormality of the third cranial nerve innervation, otherwise normal. No systemic illness was present. With corticosteroid therapy, the symptoms regressed and completely disappeared in 3 months. In January, 1990, right painful ophthalmoplegia appeared. Neurological examination revealed involvement of right sixth nerve and first branch of the right fifth nerve. With corticosteroid therapy, the symptoms completely regressed in several weeks. In April, 1990, she developed severe pain in the right side of the face. The facial pain disappeared rapidly with corticosteroid therapy, but reappeared following quit of steroid. She complained of severe pain of the right face, the territory of first and second branch of the right fifth nerve, but neurological examination was negative. With corticosteroid therapy, the pain disappeared remaining with mild tingling sensation on the right face, but during the tapering of corticosteroid in August, a severe peripheral type right facial palsy developed. Corticosteroid therapy resumed and the facial palsy regressed almost completely in ten days. Our case suggests that THS might be a variant of so-called recurrent cranial neuropathy.

Aged↗
PubMed2004

Molecular cytogenetic characterization of recurrent translocation breakpoints in bizarre parosteal osteochondromatous proliferation (Nora's lesion).

Bizarre parosteal osteochondromatous proliferation (BPOP), or Nora's lesion, is a rare tumorous lesion with aggressive growth that affects primarily the small tubular bones in the distal extremities and often recurs after excision. No previous cytogenetic data on BPOP are available. In the present study, lesions from 5 patients were investigated by chromosome banding and fluorescence in situ hybridization (FISH) analyses. Patient age ranged from 24 to 46 years, and the lesions were located in the fingers in 4 cases and in a toe in 1 case. Histological sections from all 5 tumors were characterized by a mixture of hypercellular cartilage, cancellous bone, and spindle cell components. Samples from 2 patients were available for cytogenetic analysis. One of these showed a normal female karyotype, and the other revealed a balanced translocation, t(1;17)(q32;q21), as the sole anomaly. The translocation was further characterized by 3-color metaphase FISH analyses, using 17 1q32-specific and 18 17q21-specific bacterial artificial chromosome probes, to map the precise location of the breakpoints. Split signals were detected by the RP11-99A19 probe in chromosome 1 and by the RP11-219F9 probe in chromosome 17. To determine whether these rearrangements are characteristic features of BPOP, paraffin-embedded tissue sections from all 5 patients were investigated by interphase FISH analyses. All 5 cases had a break in 1q32, and 4 of the 5 cases showed a break in the 17q21 region. The results strongly indicate that t(1;17)(q32;q21), or variant translocations involving 1q32, are recurrent and unique aberrations in BPOP. Several genes are located within the 2 sequences spanning the breakpoints, and further studies should be performed to determine whether any of these are involved in the formation of a fusion gene.

Adult↗
PubMed2004

Variant t(2;11)(p11;q13) associated with the IgK-CCND1 rearrangement is a recurrent translocation in leukemic small-cell B-non-Hodgkin lymphoma.

Classical t(11;14)(q13;q32) involving IGH-CCND1 is typically associated with aggressive CD5-positive mantle cell lymphoma (MCL). Recently, we identified the IGK variant of this translocation, t(2;11)(p11;q13), in three patients with a leukemic small-cell B-non-Hodgkin lymphoma. In all cases, rearrangements of the IGK and CCND1 genes were demonstrated by fluorescence in situ hybridization. Moreover, we mapped the 11q13 breakpoint of this variant translocation in the 3' region of CCND1 which contrasts with the 5' breakpoints in a standard t(11;14)(q13;q32). Expression of cyclin D1 was shown in two cases analyzed either at diagnosis or during disease progression. All three patients were asymptomatic at presentation and no initial therapy was required. One patient died of a progressive disease 58 months from diagnosis, and two patients showed stable disease after 12 months of follow-up. In two analyzed cases, mutated IGVH genes were identified. Our findings indicate that variant t(2;11)(p11;q13) does not typify a classical MCL but possibly a more indolent leukemic lymphoma originating from an antigen experienced (mutated) B cell.

Adult↗
PubMed2005

Detection of autoimmune regulator gene mutations in children with type 2 autoimmune hepatitis and extrahepatic immune-mediated diseases.

Autoimmune regulator gene mutations were identified in 3 children with type 2 autoimmune hepatitis and extrahepatic immune diseases, including 1 child with immune hepatitis recurrence after liver transplantation. These findings suggest that autoimmune regulator gene variants might predispose children to systemic autoimmune disease, a recurrence of immune disease, or both.

Adolescent↗
PubMed1995

Clinical spectrum in homozygotes and compound heterozygotes inheriting cystic fibrosis mutation 3849 + 10kbC > T: significance for geneticists.

We describe patients inheriting cystic fibrosis (CF) mutation 3849 + 10kb > T as homozygotes or compound heterozygotes. Three unrelated homozygotes for this mutation were all pancreatic-sufficient and sweat test-negative or inconclusive. Among the compound heterozygotes, both pancreatic sufficiency and insufficiency, as well as positive and negative/inconclusive sweat test results are reported, expanding the range of clinical expression associated with inheritance of this mutation. 3849 + 10kbC > T is one of several CF mutations that can result in atypical or variant forms of CF. For geneticists, the diagnosis of variant CF has implications for recurrence risk and prognosis counseling of the families of affected individuals, and possibly for CF carrier screening in the general population.

Adolescent↗
PubMed2026

Dental phenotypes associated with novel PHEX variants in X-linked hypophosphatemia.

OBJECTIVES: X-linked hypophosphatemia (XLH) is a genetic disorder related to bone, mainly due to the mutations in PHEX gene. Previous studies have reported that XLH patients had various tooth phenotypes. It is unclear whether there are any rules about these abnormal tooth phenotypes, especially in those XLH cases with PHEX mutations. The objectives of this study were to find the most representative dental characteristics of XLH and the possible phenotype-genotype correlation. DESIGN: Two unrelated patients with XLH underwent clinical, radiographic, biochemical, and genetic evaluation. Whole-exome sequencing and whole-genome sequencing were used to identify pathogenic variants. The ultrastructure of extracted teeth was analyzed using a stereomicroscope, micro-CT, and scanning electron microscopy. In addition, a PubMed search (up to January 2026) identified 22 articles involving 366 patients for descriptive phenotype comparison. RESULTS: Two novel PHEX variants were identified: a novel complex structural variant (NC_000023.11, g.22035649-22041668delins) and a novel heterozygous splice-site variant (NM_000444.6, c.850-1 G>A). Radiographic examination showed enlarged pulp chambers and irregular pulp morphology. Ultrastructural analysis revealed dentin defects, including globular dentin, irregular interglobular dentin, disrupted dentinal tubules, and exposed collagen fibrils. Literature-based analysis indicated prevalent clinical manifestations (pulp necrosis, tooth loss, periodontitis) and radiographic findings (enlarged pulp chamber, and prominent pulp horn). CONCLUSION: In these two patients, novel PHEX variants were associated with a recurrent dentin-pulp phenotype. Integrated clinical, radiographic, ultrastructural, and literature evidence supports dentin defects as a central component of the dental phenotype in XLH and underscores the importance of early dental assessment.

Humans↗