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Variant of general classification of ammunition polymer components (APC) is suggested and terminology of trace-forming parts of some APC for practical use is presented. The author shows mechanism of APC substance trace formation upon the obstacles and gives their terminology.
Temporal lobe syncope (TLS) is a term coined by Landolt. Characteristically, the patient has psychomotor and drop attacks, and the interictal electroencephalogram (EEG) shows temporal lobe epileptic abnormalities. TLS is synonymous with type III complex partial seizures (CPSs) in the Delgado Escueta classification. Several variants of TLS can be recognized including atonic akinetic, simple akinetic, atonic, atonic-tonic complex (automatisms), sexual seizures, stress-induced convulsions, and gelastic atonic seizures. TLS must be distinguished from drop attacks of vertebrobasilar insufficiency and associated EEG abnormalities, and from hereditary tachyarrhythmias mimicking stress-induced convulsions. Epileptic falls and drop attacks are discarded by ictal EEG recordings. Recognition of TLS variants is important in the prospective evaluation of the surgical treatment of epilepsy given the past conflicting reports on the differential outcome of surgically treated CPSs. TLS is an attractive clinical term, easy to remember, and with pathophysiologic relevance to the clinician confronting the patient with a history of syncope and whose EEG discloses temporal lobe paroxysmal activity. The detailed ictal electrophysiology of TLS is unknown.
PURPOSE: Genetic testing is required to confirm a diagnosis of familial chylomicronemia syndrome (FCS). We assessed the pathogenicity of variants identified in the FCS canonical genes to diagnose FCS cases. METHODS: 245 patients with severe hypertriglyceridemia underwent next-generation sequencing. Preliminary variant pathogenicity criteria and classification, based on the American College of Medical Genetics and Genomics guidelines, were obtained online and verified. Phenotype evaluation was based on lipoprotein lipase activity deficiency, a clinical score, and/or type I hyperlipoproteinemia determined in 25 patients. RESULTS: Twenty-four biallelic variants were analyzed. Evidence-based criteria allowed the reclassification of 8 likely pathogenic (LP) variants in the LPL, APOA5, and LMF1 genes into pathogenic (P) and the change of 2 variants of uncertain significance (VUS) to LP. Conversely, 2 variations in LMF1 remained as VUS. Additionally, 1 variant in LPL and 2 in GPIHBP1 were likely benign. Twenty FCS cases had biallelic P/LP variants and 1 patient, with an FCS phenotype, harbored biallelic VUS. FCS was excluded from 4 patients with pathogenic/likely benign combinations. CONCLUSION: The analysis of the clinical and biochemical features of patients with variants in the FCS canonical genes allowed a confident variant classification that helped in the diagnosis of novel FCS cases.
A total of 363 cases of nasopharyngeal carcinoma (NPC) in Singapore were classified into squamous cell carcinoma (SCC; 73 cases), non-keratinizing carcinoma (NKC; 178 cases) and undifferentiated carcinoma (UC; 172 cases). Possible biological differences between these histologic types and between tumors with and without lymphocytic infiltration were investigated by correlations with survival rates and with selected epidemiologic, immunovirologic, and immunogenetic data on the disease. The 5-year survival rates following radiotherapy were 25.3% for all cases and 58.8% for tumors restricted to the nasopharynx. The 5-year survival rate for SCC was poorer than for the combined NKC and UC groups (p less than 0.05). The 3-year survival rate was better for tumors with lymphocytic infiltration (p less than 0.05), but there were no differences in the 5-year survivals. The survival rates were better in females (p less than 0.01) and in the younger age groups (p less than 0.01). There were no significant correlations between histopathology of NPC and the distributions of cases by age, sex, HLA antigen profiles, or cell-mediated immune status. Squamous cell carcinoma was associated with lower levels of antibodies to the Epstein-Barr nuclear antigen (p less than 0.05), but there were no differences with respect to antibodies against other EBV related antigens. These findings support the view that SCC, NKC, and UC of the nasopharynx, as defined in the WHO classification, are variants of a fairly homogeneous group of neoplasms in the Singapore population.
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PURPOSE: Optimizing return of secondary findings (SFs) in research settings requires an understanding of the complexities and challenges. METHODS: Genome sequence was generated for 4737 participants in a genetic and environmental health study, and 4630 of them consented to SF return. Variants in the American College of Medical Genetics and Genomics v3.0 genes were classified using the American College of Medical Genetics and Genomics/Association for Molecular Pathology criteria with ClinGen-approved modifications. RESULTS: Eighty-six variants were eligible for return to 102 participants. Average time to initial recontact attempt was 5.8 years. Recontact attempts reached 95 of 102 individuals. Results were returned to 57 participants. The remainder passively declined (25), actively declined (11), were lost to follow-up (5), were deceased (3), or had prior knowledge of the result (1). Return of results was positively associated with education status (2 × 3 C2, P = .0035). CONCLUSION: The interest in receiving SFs was high at the time of consenting, but a clinically validated result was returned to just over half of the individuals with an SF. Approximately 1 in 3 participants with an SF who had consented to receive them subsequently actively or passively declined receipt of the result. Given the health importance of return of SF, minimizing the time from consent to results return and tailoring outreach to education level may optimize uptake of SF return.
This article provides us with background information on the disease. Clinical features, variants and classification, laboratory findings, and pathology are discussed. Knowledge of the disease's pathogenesis has increased recently and specific causes discussed are predisposing factors, triggering agents, endothelial damage, defective PGI2 bioavailability, FVIII/vWF multimeric structure abnormalities, platelet activation, and hemolytic anemia. Proposed specific therapies discussed are steroids, heparin, antiplatelet agents, prostacyclin, splenectomy, immunosuppressive agents, plasma infusion, and plasma exchange.
An electron-microscopic study was made of carcinoids, malignant carcinoids and small-cell lung cancer. These neoplasms are shown to represent one histogenetic group--neuroendocrine tumours (apudomas) of the lung. One can distinguish 3 main structural forms among them, i.e. epithelioid, sarcoma-like and symplastic. According to the ultrastructural criteria the neoplasms mentioned can be classified by their differentiation degree, as well, intermediately and poorly differentiated variants. This classification correlates well enough with the catamnesis of patients and may serve for prognosis of the disease.
Problems in the diagnosis and treatment of cysto-sarcoma phyllodes in thirteen women are discussed. This is a rare breast tumour which must be regarded as semi-malignant. Its malignancy consists of its tendency to recurrence and the development of distant metastases. Five patients had one or more recurrences and three patients had metastases which were fatal. Radiological and thermographic diagnosis of small tumours is unreliable. It is not possible to distinguish the benign from the malignant variants. Accurate classification depends on histological examination. The authors consider removal of the glandular tissue or simple mastectomy to be the best form of treatment.
23 patients with hemophilia B have been investigated by means of several immunological methods. 16 patients (69.9%) had no detectable factor XI antigen. Five had a normal factor IX antigen and the electrophoretic mobility of this abnormal factor IX was similar to that of its normal counterpart. One of these five patients had hemophilia Bm, since ox brain thromboplastin clotting time was severely prolonged. The remaining two patients had reduced or decreased factor IX antigen. Several patients showed a slight protongation of ox brain thromboplastin time due to an associated slight factor VII deficiency. On the basis of these results, a tentative classification of hemophilia B into five variants is proposed, namely: hemctor IX antigen; hemophilia Bra, or with reduced factor IX antigen; hemophilia Bm, or with normal factor IX antigen and severely prolonged ox brain thromboplastin; hemophilia B patients is feasible only by means of a battery of tests, namely:factor IX activity assay, factor IX antigen determination, ox brain thromboplastin clotting time, factor VII activity assay.
BACKGROUND: Classification of heterozygous germline PTEN variants in patients with, or suspected of having, PTEN hamartoma tumour syndrome (PHTS) remains challenging. Accurate classification is essential as these patients require lifelong cancer surveillance. METHODS: We identified all patients with a PTEN variant previously classified as a variant of uncertain significance (VUS), likely pathogenic (LP) or pathogenic (P), collected clinical data and reclassified all variants using the latest PTEN gene-specific American College of Medical Genetics (ACMG) guidelines. Moreover, genotype-phenotype correlations were assessed. RESULTS: 167 patients from 112 families were enrolled. Eighty-seven unique PTEN variants were identified, including 20 novel variants. After applying the PTEN gene-specific ACMG guidelines, 32 variants (36.8%) were reclassified, resulting in 60 PTEN variants classified as LP/P (69.0%), 18 variants classified as VUS (20.7%), while 9 variants were classified as LB/B (10.3%). Genotype-phenotype correlation was performed among 104 patients with LP/P variants: 51 cancer cases were recorded in 41 patients and a distinct PHTS phenotype was observed in 25% of patients, with macrocephaly being present in 99% of patients with a known head circumference. Twenty-three patients had neurodevelopmental delay and/or autism, and we observed an increased prevalence of missense variants in these patients. CONCLUSION: We identified 87 different PTEN variants, and application of PTEN gene-specific ACMG guidelines led to reclassification of 32 variants (36.8%), underscoring the importance of regular variant reassessment using the most recent gene-specific guidelines, ensuring optimal patient management and surveillance.
We have studied the detection and classification of genetic variants of human serum albumin by electrophoresis. Samples from 10 patients who were heterozygous for eight different albumin variants were studied by two methods. In agarose gel electrophoresis, each of these variants has an abnormal mobility and can be classified on the basis that structural changes at the N-terminus abolish 63Ni binding. In sodium dodecyl sulfate-polyacrylamide gel electrophoresis of whole serum, glycosylated variants are easily detected because of their greater apparent molecular mass.
Histological and cytological preparations of the lymph nodes, spleen, bone marrow and other tumors from 140 patients with different variants of lymphosarcomas were subjected to a comparative clinicomorphological analysis. The data obtained were correlated to the WHO classification and the working formulation of non-Hodgkin's lymphomas intended for clinical use. It has been found desirable that the working formulation may be used for predicting the disease course and elaboration of the programs of lymphosarcoma treatment.
Eight different types of genetic variants of albumin are observed in the French population. The analysis of electrophoretic patterns of sera containing these variants, performed a three different pHs (8.6, 5.0 and 6.9) after addition of a reference protein (transferrin), allows the identification each variant by a quantitative estimation of its relative mobilities. The accuracy and reproducibility of the technique make it a useful reference method, commonly employed for studying European variants. The samples used as references for five genetic variant types, proalbumins Christchurch and Lille, albumins Vanves, B and Reading, were subjected to sequence analysis to determine the nature and localization of their structural change. Together with the mutations of albumins Gent and Roma previously described, the data presented here make available seven reference specimens for which the structural changes are characterized out of the eight variants known to exist in France.
Concurrent clinicomorphological studies were carried out in patients with malignant Hodgkin's and non-Hodgkin lymphomas treated in the Hematologic Clinic of the High Medical Institute in Pleven. The frequency of the different clinicomorphological variants and their classification in accordance with their initial localization, clinical stage and histological variant were studied. Some clinicomorphological features of the patients studied are analyzed.
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Explore the source record for details and available documents.