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PubMed2005

Recurrent ventriculoperitoneal shunt infection caused by small-colony variants of Staphylococcus aureus.

Phenotypic variants of Staphylococcus aureus may be misidentified by routine microbiological methods, and they may also respond poorly to antibacterial treatment. Using molecular methods, we identified small-colony variants of methicillin-resistant S. aureus (which were misidentified by 3 widely used automated identification systems as methicillin-susceptible coagulase-negative staphylococci) as the cause of recurrent ventriculoperitoneal shunt-related meningitis.

Aged↗

PubMed2006

[Analysis of the relationship between pathology and recurrence of primary lacrimal epithelial tumors].

OBJECTIVE: To analyze the relationship between pathology and recurrence of primary lacrimal epithelial tumors. METHODS: 128 cases of primary lacrimal epithelial tumors including benign mixed tumor (74 cases, 57.8%), adenoid cystic carcinoma (22 cases, 17.2%) and malignant mixed tumor (18 cases, 14.1%) were subjected in the study. Pathological features were analyzed and compared with their recurrence. RESULTS: The recurrent rate of benign mixed tumor, adenoid cystic carcinoma and malignant mixed tumor was 23.0%, 18.2% and 27.8%, respectively. The recurrence of benign mixed tumor was statistically related to pathological classification and encapsulates. CONCLUSIONS: Primary lacrimal epithelial tumors show variant types and high recurrent rate. The pathological features were decisive in diagnosis, selection of treatment and the time of follow-up.

Adult↗

PubMed1987

A boy with recurrent infections, impaired PMN-chemotaxis, increased IgE concentrations and cranial synostosis--a variant of the hyper-IgE syndrome?

A patient with coarse facies, craniosynostosis, recurrent staphylococcal infections with pneumatocele formation is described. Laboratory features included moderately elevated serum IgE, cutaneous anergy, decreased numbers of T-suppressor cells and variable inhibition of neutrophil chemotaxis. The combination of clinical findings suggests the diagnosis hyper-IgE syndrome, though the total IgE serum concentration (800 U/ml) and the level of IgE-specific antibodies to staphylococci (9.4%, normal less than 5%) were only slightly elevated.

Chemotaxis, Leukocyte↗

PubMed2006

[Recurrent cardiac arrest due to electro-mechanical dissociation in a patient with variant angina -- a case report].

We present a case of a 44-year-old male with recurrent episodes of cardiac arrest in the course of Prinzmetal's angina. Episodes of variant angina can be life threatening due to episodes of advanced atrioventricular block, asystole, ventricular tachycardia or ventricular fibrillation. It has been suggested to implant an ICD in all patients with variant angina after cardiac arrest. This patient received an ICD, however, he died suddenly 6 months later. The possible mechanism of cardiac arrest was an electromechanical dissociation.

Adult↗

PubMed2001

Recurrent leg ulcers and arterial thrombosis in a 33-year-old homozygous variant of antithrombin.

We report here a homozygous variant case of antithrombin (AT) associated with arterial thrombosis and recurrent leg ulcers. The deep vein thrombosis was recognized by the venogram of his pelvic veins. His leg ulcers were scattered around his left ankle and accompanied by lipodermatosclerosis, which was evident in venous insufficiency. The propositus had developed cerebral infarction 12 years prior to his leg ulcers. Coagulation study showed low heparin cofactor activity of his AT with a normal level of immunoreactive AT. Nucleotide sequence analysis of the exon 2 of his AT gene showed Arg47-Cys mutation, leading to the lack of affinity of AT for heparin. The propositus is a homozygote for this abnormality.

Adult↗

PubMed2026

Prevalence of BRCA1/2 variants in an Ovarian Cancer Cohort: outcomes from a Nationwide Testing Program.

Poly(ADP-ribose) polymerase inhibitors (PARPi) have revolutionized the management of BRCA1- and BRCA2-associated ovarian cancer (OC). In 2020, Ireland implemented a nationwide, oncology-led pathway for mainstreamed BRCA1/2 testing in patients with OC. This study evaluated the pathway and characterised the BRCA1/2 landscape in an Irish cohort of patients with OC. Samples collected between January 2020 and December 2023 were tested in two national molecular diagnostic laboratories. Single-molecule molecular inversion probe sequencing was used to detect single nucleotide variants, while multiplex ligation-dependent probe amplification assessed large genomic rearrangements. Variants were classified according to the American College of Medical Genetics and Genomics and Association for Clinical Genomic Science 2020 guidelines and CanVIG-UK specifications. In total, 535 patients were included, with a median age of 65.5 years (range, 27-89 years). Of these, 455/535 (85.0%) underwent germline BRCA1/2 (gBRCA) testing using peripheral blood, and 360/535 (67.2%) underwent tumour BRCA1/2 (tBRCA) testing, resulting in 292/535 (54.6%) patients having paired testing. Among gBRCA-tested patients, 10.3% (47/455) had a clinically actionable variant (CAV), while 2.1% (10/455) had a variant of uncertain significance. Of the 262 patients who underwent paired testing and had negative gBRCA results, 9.5% (25/262) had a somatic BRCA CAV. Recurrent germline BRCA CAVs were identified in regional clusters, including BRCA1 c.5266dup, BRCA1 c.1175_1214del, and BRCA2 c.4398_4402del. This nationwide real-world study demonstrates that mainstreamed germline and somatic BRCA1/2 testing is feasible in Ireland and reports the prevalence of BRCA CAVs in a cohort of patients with OC. Although the observed prevalence of germline BRCA CAVs was lower than anticipated, it is consistent with UK real-world data. The identification of recurrent, regionally clustered germline variants further enhances the characterisation of the Irish genomic landscape.

Journal Article↗

PubMed2006

Serotonin transporter gene influences the time course of improvement of "core" depressive and somatic anxiety symptoms during treatment with SSRIs for recurrent mood disorders.

The short variant of the serotonin transporter gene (SERTPR) has been consistently associated with a poorer response to treatment with various selective serotonin reuptake inhibitors (SSRIs). Antidepressant response is not a unitary phenomenon, however, and we here hypothesized that the SERTPR effect could be specific to some types of symptomatology. The sample comprised 281 inpatients affected by mood disorders and treated for major depression with SSRIs. The total depressive scores for all patients were analyzed in previous reports, but symptomatologic clusters were not examined previously. The 21-item Hamilton Rating Scale for Depression (HAM-D) was administered to evaluate depressive symptoms at baseline and weekly over 6 weeks of treatment. All patients were genotyped for the SERTPR polymorphism. Compared with patients with the SERTPR l/l and l/s polymorphisms, s/s patients showed a selective and slower improvement of depressive "core" and somatic anxiety symptoms, but they did not differ from other patients regarding other symptomatologic clusters such as insomnia and motor retardation. These findings support the view that response to SSRIs is not a unitary phenomenon and that improvement of symptomatologic clusters as, at least in part, genetically driven. SERTPR may be hypothesized as concurrently participating to the activity of anatomic brain regions differentially involved in depression and somatic symptoms of anxiety; however, further studies are required to examine these complex interactions.

Adult↗

PubMed2026

Tumor Mutational Concordance and Recurrence Timing in Hepatocellular Carcinoma.

INTRODUCTION: In hepatocellular carcinoma (HCC), intrahepatic recurrence includes true recurrence from clonal relapse and multicentric recurrence from de novo tumorigenesis. Recurrence timing is used to distinguish these types; however, its accuracy remains unclear. This study aimed to classify recurrent tumors based on somatic mutational concordance and assess the validity of recurrence timing. METHODS: Whole-exome sequencing was performed on paired primary and recurrent HCC tumors from 49 patients enrolled in a prospective institutional omics project. Tumors with ≥ 10 shared somatic mutations were classified as true recurrence. Clinicopathological features, recurrence timing, driver mutation patterns, and survival outcomes were compared between recurrence types. Mutational concordance was quantified using shared variant counts and the Jaccard similarity index. RESULTS: Of the 49 patients, 22 (44.9%) showed true recurrence and 27 (55.1%) had multicentric recurrence. Multicentric recurrence tumors harbored no shared variants or only a single shared variant with the primary tumor. True recurrence was associated with significantly higher concordance in histological differentiation and Edmondson-Steiner grading and greater retention of CTNNB1, TP53, ARID1A, and KEAP1 mutations. The number of shared variants (median: 115 vs. 0, and p < 0.001) and the Jaccard index (median: 0.44 vs. 0.00 and p < 0.001) were significantly higher in the true recurrence group. Recurrence timing was inconsistently correlated with mutational concordance, although a 3-year cutoff yielded significant separation. CONCLUSION: Recurrence timing alone insufficiently reflects clonal relationships. Genomic profiling offers a reliable framework for distinguishing between recurrence types and guiding HCC management.

clonal relapse↗

PubMed2024

Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort.

PURPOSE: The genetic underpinning of neurodevelopmental disorders (NDDs) in diverse ethnic populations, especially those with high rates of consanguinity, remains largely unexplored. Here, we aim to elucidate genomic insight from 576 well-phenotyped and highly consanguineous (16%) NDD cohort. METHODS: We used chromosomal microarray (CMA; N:247), exome sequencing (ES; N:127), combined CMA and ES (N:202), and long-read genome sequencing to identify genetic etiology. Deep clinical multivariate data were coupled with genomic variants for stratification analysis. RESULTS: Genetic diagnosis rates were 17% with CMA, 29.92% with ES, and 37.13% with combined CMA and ES. Notably, children of consanguineous parents showed a significantly higher diagnostic yield (P < .01) compared to those from nonconsanguineous parents. Among the ES-identified pathogenic variants, 36.19% (38/105) were novel, implicating 35 unique genes. Long-read sequencing of seizure participants unresolved by combined test identified expanded FMR1 trinucleotide repeats. Additionally, we identified 2 recurrent X-linked variants in the G6PD in 3.65% (12/329) of NDD participants. These variants were absent in large-population control cohorts and cohort comprising neurodevelopmental and neuropsychiatric populations of European descendants, indicating a possible associated risk factor potentially resulting from ancient genetic drift. CONCLUSION: This study unveils unique clinical and genomic insights from a consanguinity rich Bangladeshi NDD cohort.

Humans↗

PubMed1983

Eccrine adenocarcinoma. A clinicopathologic study of 35 cases.

A clinicopathologic study was made of 35 patients with primary eccrine adenocarcinoma diagnosed in the past 20 years from among 450,000 consecutive skin biopsy specimens. Histologically the following four distinct variants were identified: eccrine porocarcinoma (18 cases), syringoid eccrine carcinoma (12 cases), mucinous eccrine carcinoma (three cases), and clear cell eccrine carcinoma (two cases). Overall, eccrine adenocarcinomas are destructive lesions with a tendency to local recurrence. The syringoid histologic variant appears to be well differentiated and may have a benign clinical course; the lesion remained localized to the skin in our 12 cases. Regional lymphatic and distant metastasis, however, occurred in two patients with eccrine porocarcinoma.

Adenocarcinoma↗

PubMed1990

Bromodeoxyuridine labeling study of intracranial meningiomas: proliferative potential and recurrence.

Ninety-six patients with intracranial meningiomas and two with hemangiopericytic variants received a 30-min intravenous infusion of bromodeoxyuridine (BrdUrd), 200 mg/m2, before tumor removal. Excised tumor specimens were stained by the indirect immunoperoxidase method to determine the BrdUrd labeling index (LI), or percentage of cells in DNA synthesis. The BrdUrd LI was less than 1% in 63 (86.3%) of 73 nonmalignant meningiomas and less than 1% in 20 (87%) of 23 malignant meningiomas. Of 23 malignant meningiomas 11 were recurrent tumors; 8 patients had recurrence 3 to 33 months after the study. The recurrence rate was 100% (five of five) in patients whose tumors had a BrdUrd LI greater than 5%, 44% (11 of 25) in those with a BrdUrd LI 1% to 5%, and 6.1% (4 of 66) in those with an LI less than 1%. Thus, meningiomas with a BrdUrd LI greater than 1% may grow faster and recur more frequently. Among patients with malignant meningiomas, the mean time to recurrence after the study was 7.5 months in those with a BrdUrd LI greater than 5% and 20.2 months for those with an LI 1% to 5%. The mean time to recurrence was 97.8 months in patients with nonmalignant meningiomas. Both hemangiopericytic variants were recurrent and showed LIs of 0.5% and 4.1%; the former tumor recurred 8 years after complete resection, while the latter recurred three times in 3.5 years. Thus, the proliferative potential of intracranial meningiomas as reflected by the BrdUrd LI appears to be a prognostic variable that can help to elucidate the biological behavior of individual meningiomas.

Adolescent↗

PubMed2005

[Clinicopathologic and radiologic features of dysembryoplastic neuroepithelial tumors].

OBJECTIVE: To study the clinicopathologic features and radiologic findings of dysembryoplastic neuroepithelial tumor (DNT). METHODS: The clinical presentations, radiologic findings, histologic features and immunophenotype of 9 cases of DNT were analyzed. RESULTS: The age of patients ranged from 12 to 51 years (mean age = 32 years). Most presented with partial seizures, sometimes accompanied by transient aphasia, agraphia and decreased visual acuity. One case was asymptomatic and discovered incidentally during a routine check-up. All patients had no neurological deficit found on physical examination. All tumors were located in the supratentorial cerebral cortex. There was no peritumoral edema or space-occupying effect on radiologic examination. The tumors involved either frontal lobe (number = 4), temporal lobe (number = 4), frontoparietal lobe (number = 1) . Two cases showed cystic changes. Two histologic variants of DNT were recognized: simple (number = 3) and complex (number = 6). Simple variant was composed mainly of the glioneuronal element, accompanied by surrounding oligodendrocyte-like cells, and the complex variant contained a low-grade glioma component, in addition to the glioneuronal element and sometimes foci of cortical dysplasia. CONCLUSIONS: DNT is a benign tumor with excellent prognosis after surgical excision. Local recurrence is rare. Complex variant of DNT needs to be distinguished from other types of low-grade glioma.

Adolescent↗

PubMed1984

Role of percutaneous transluminal coronary angioplasty in patients with variant angina and coexistent coronary stenosis refractory to maximal medical therapy.

Percutaneous transluminal coronary angioplasty (PTCA) was performed with initial success in 7 patients with variant angina and significant (greater than 60%) coronary stenosis. The mean degree of stenosis was reduced from 77 +/- 12% to 29 +/- 15% and the mean systolic pressure gradient from 78 +/- 18 to 25 +/- 9 mmHg. Apart from a reversible spasm in one patient, PTCA was free of acute complications. Despite long-term treatment with nifedipine, nitrates, and warfarin (patients 1 to 5) or aspirin (patients 6 and 7) restenoses occurred in 4 of 7 patients. An aortocoronary bypass was necessary in 2 patients, 3 respectively 6 weeks after PTCA because of tighter restenoses than before PTCA. Another patient underwent successful repeat angioplasty after 6 weeks and remained improved. During a mean follow-up observation of 21 months (6 to 30 months), 4 patients were asymptomatic, even without medication. In one of these patients, the follow-up angiography (6 months after PTCA) demonstrated a restenosis. These results suggest that PTCA demonstrated a restenosis. These results suggest that PTCA can be performed without a higher risk of acute complications in patients with variant angina. Although the recurrence rate is high in these patients, sustained clinical improvement was achieved in a substantial percentage of patients in our study.

Adult↗

PubMed1978

An unusual variant of membranous nephropathy with abundant crescent formation and recurrence in the transplanted kidney.

A patient with what initially appeared to be a typical membranous nephropathy had a progressive course to renal failure, nephrectomy, and transplantation. The nephrectomy specimen revealed abundant glomerular crescents and capsular synechiae. Post-transplantation the patient again developed a membranous nephropathy with florid crescents. Radioimmunoassay and indirect immunofluorescence tests failed to reveal anti-glomerular basement membrane antibody in the serum or kidney. It appears that there is a form of membranous nephropathy with crescent formation, unrelated to anti-GBM antibody, which has the capacity to recur after transplantation.

Adult↗

PubMed2000

A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease.

Hirschsprung disease (HSCR) is an inherited disorder characterised by absence of intrinsic ganglion cells in the distal gastrointestinal tract. Different susceptibility genes, involved in either the Ret-tyrosine kinase or the endothelin signalling pathways, contribute to HSCR phenotype. Interestingly, alterations of these genes are detected in only 30-50% of all HSCR patients, suggesting the involvement of modifier genes and/or additional genetic or environmental risk factors. In complex disorders common polymorphic variants can be associated with the disease phenotype, thus modifying the risk of recurrence. To investigate whether sequence variants of the RET proto-oncogene may be associated with the development of the HSCR phenotype, we analysed 92 Italian patients for the 2508C > T synonymous substitution in exon 14 (S836S) finding that the T allele is clearly less frequent than in control individuals (Fisher exact test P = 0.0002). On the other hand, this RET variant allele is overrepresented in patients affected with medullary thyroid carcinoma. Assuming a direct effect of this single-nucleotide polymorphism in predisposing to RET associated pathologies, we have performed functional tests which excluded any possible involvement of the C and T alleles in DNA-protein binding, transcript stability and RNA splicing and editing.

Alleles↗

PubMed1979

Chronic recurrent angina.

The natural history of variant angina is described in a patient with multiple exacerbations and remissions over a period of several years. Constant in-hospital electrocardiographic monitoring for 26 days documented 569 episodes of ST elevation, 89% of which were asymptomatic. Episodes ranged in duration from 15 seconds to 11 1/2 minutes, with 4% of episodes associated with premature ventricular contractions. Over the course of hospitalization, the episodes of ST elevation decreased in frequency and length, as did episodes of pain. During this period, a number of therapeutic agents, including propranolol, indomethacin, and chlorpheniramine were evaluated using double-blind crossover trials. No agent had a significant beneficial effect on the course of the disease, and there was an increase in the length of episodes with high doses of propranolol. Because of the great variability in the course of this disease, only double-blind crossover trials should be allowed to dictate the efficacy of therapeutic agents.

Angina Pectoris↗

PubMed2005

Clinical, biochemical and genetical resistance to clopidogrel in a patient with the recurrent coronary stent thrombosis--a case report and review of the literature.

The in-stent thrombosis is considered as a serious complication of percutaneous coronary intervention. The impaired response to the antiplatelet therapy may play an important role in this crucial problem. Recurrent thrombosis can be explained by genetic background. Because the phenomenon of clopidogrel resistance is associated with an increased risk of recurrent cardiovascular events, genetic variants of a platelet receptor P2Y(12) might be the risk factor. Although there is no test recommended to assess the response to the antiplatelet therapy, the presented case suggests platelet function analysis should be undertaken in patients with recurrent stent thrombosis.

Aged↗

PubMed1987

Lymphocyte predominance Hodgkin's disease: a reappraisal based upon histological and immunophenotypical findings in relapsing cases.

The clinical, morphological and immunological findings in nine cases of relapsing lymphocyte predominance Hodgkin's disease (LPHD) are examined. Six patients had initial biopsies demonstrating nodular lymphocytic and/or histiocytic (L&H) LPHD; Leu-M1 was not expressed by any of the atypical cells in these cases. All six demonstrated one or more recurrences of nodular L & H LPHD; four are currently free of disease, one died of non-Hodgkin's lymphoma and another died of leukaemia. Two patients had initial biopsies demonstrating diffuse LPHD, with only rare multilobated atypical cells (L & H variants). Both patients had recurrences interpreted as mixed cellularity Hodgkin's disease, 10 and 15 years after initial therapy and both died with lymphocyte depleted Hodgkin's disease. The atypical cells in the initial biopsies and in subsequent recurrences failed to express Leu-M1, but did express leukocyte common antigen. The initial biopsy from the final patient was histologically interpreted as focal involvement by LPHD, but interfollicular Hodgkin's disease was considered after the Leu-M1 stain revealed additional atypical cells. The disease relapsed and the patient died with typical nodular sclerosing Hodgkin's disease. The pattern of the relapses supports the concept that the histological entity of LPHD may include several distinct clinicopathological subgroups.

Biopsy↗