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PubMedDate not supplied

Idiopathic anaphylaxis: diagnostic variants and the problem of nonorganic disease.

We report on an expanding series of cases of idiopathic anaphylaxis (IA) with development of a classification, therapeutic regimens, and control of disease and induction of remission. Simultaneously, a growing series of cases referred for diagnosis and management of IA do not have IA. These cases, which approximate 10% of our series of IA cases, present serious time-consuming diagnostic problems for physicians. We present a series of nine cases of this type of nonorganic disease and describe the presenting symptoms, failure to document clinical abnormalities, and the lack of a response to a regimen shown to be effective in altering the course of true IA. The classification of IA has been expanded to include IA variants for patients in whom the symptoms complex varies significantly from other types of IA. Diagnostic suggestions and the problems of management are reviewed.

Adult↗

PubMed1997

[Patient outcome--towards a definition and classification of nursing care outcome].

Within the context of the desired unambiguousness in definitions and classifications of the nursing terminology, this literature research attempts to inventory the divergent meanings in recent professional nursing literature of the concept 'patient outcome', as well as the classifications used. Data analysis and interpretation was carried out by means of analytic induction. The results clearly show the ambiguousness of the concept. Nursing literature appears to pay little attention to the study of the structure of (the) patient outcome(s). Then, the context in which the patient outcome has to be situated appears to be described in many divergent ways. Finally, classifications of patient outcomes are found in many variants. This report concludes with suggestions for an unequivocal definition of patient outcome, as well as for the construction of (a) classification(s) of patient outcomes.

Data Collection↗

PubMed1996

Analysis of the phospholipase C gene of Clostridium perfringens KZ1340 isolated from Antarctic soil.

Clostridium perfringens KZ1340 isolated from Antarctic soil was first classified as Clostridium plagarum and later as a lecithinase-negative variant of C. perfringens. Although the strain produced no detectable lecithinase (phospholipase C, PLC) activity in the culture supernatant, it was shown by Southern blot hybridization to possess a PLC-encoding gene (plc). To determine the cause of the PLC deficiency, we cloned and sequenced the plc gene from KZ1340. The deduced amino acid sequence consists of 398 amino acid residues, coinciding with those of the plc genes previously determined. Tyrosine was substituted for histidine at amino acid position 148, which is thought to bind a zinc ion essential for PLC activity. Northern blot analysis revealed that KZ1340 expressed the plc gene at an extremely low level. Furthermore, the plc gene cloned from C. perfringens strain 13 into a plasmid was expressed weakly in KZ1340, compared to that in strain 13. This indicates that the former strain represses plc gene expression in trans. When a phylogenetic tree of plc genes was constructed, the KZ1340 plc gene formed a monophyletic branch along with those of various other C. perfringens strains, supporting the classification of the strain as a variant of C. perfringens.

Amino Acid Sequence↗

PubMed2001

Nevus of Ota: a new classification based on the response to laser treatment.

BACKGROUND AND OBJECTIVE: For 60 years, Tanino's classification has been used to classify the extent of nevus of Ota. However, such classification not only fails to address variants such as phacomatosis pigmentovascularis but also cannot be used to predict the therapeutic outcome. Our objective is to retrospectively study our series of laser-treated patients with the aim of re-classifying nevus of Ota, so that such important issues can be taken into account. STUDY DESIGN/MATERIALS AND METHODS: One hundred nineteen patients that had received Q-switched laser treatment were recruited into the study. They were recalled for interview and examination for evidence of coexisting birthmarks and extracutaneous involvement. Two observers assessed the pre- and posttreatment clinical photographs for evidence of periorbital under-response (panda's sign), defined as the degree of periorbital laser clearing significantly less than clearing in the other area. RESULTS: A total of 47.8% of the patients with periorbital pigmentation were considered by the observers to have significant periorbital under-response (panda's sign). Additionally, 10.1% had other birthmarks, and extracutaneous involvement was seen in 31.4% of the patients. CONCLUSION: Periorbital under-response is commonly seen in patients with periorbital pigmentation. Taking this and other factors into consideration, we have proposed a new classification for nevus of Ota that allows for the prediction of the clinical outcome of laser treatment.

Adolescent↗

PubMed1988

High-grade non-Hodgkin's lymphoma of B-cell type. I. Histopathology.

One hundred and twenty-eight cases of high-grade malignant B-cell lymphoma were studied with a plastic re-embedding technique and classified according to the Kiel classification. The cytological details could be better recognized than in the original paraffin sections, thus permitting a more precise definition of the various lymphoma types. The entities centroblastic and immunoblastic lymphoma are more precisely defined and supplemented by the addition of several new variants. In contrast to the present Kiel classification we separate Burkitt's from lymphoblastic lymphoma. In all cases investigated, the B-cell nature of the tumour cells was proven by immunohistochemistry using monoclonal antibodies. The four entities of high-grade malignant B-cell lymphoma described in this paper are: (1) centroblastic lymphoma with four morphological variants (monomorphic, polymorphic, multilobated and centrocytoid); (2) immunoblastic lymphoma with three morphological variants (with or without plasmacytic differentiation, with many lymphocytes); (3) Burkitt's lymphoma and the closely related Burkitt's lymphoma-like lymphoma with plasmablastic differentiation; and (4) lymphoblastic lymphoma. Only the centroblastic lymphomas (in 17%) showed occasional follicular growth pattern, which further confirms the view that they are derived from germinal centre cells.

B-Lymphocytes↗

PubMed2004

[Diagnosis and management of sulcus vocalis].

OBJECTIVE: To clarify the pathophysiology of sulcus vocalis and to develop a more rational approach to treatment. METHODS: Twenty-nine cases of sulcus vocalis patients were divided into three classification: Type I is a physiologic variant and no dysphonia (11 cases). Types II (sulcus vergeture, 13 cases) and III (sulcus vocalis, 5 cases) are characterized by severe dysphonia and loss of vibratory activity. Eighteen cases of dysphonia were treated by surgery and phonation training. The operations included fat injection into vocal cords (9 cases of types II and 1 cases of types III, including 1 case of types III of second operation), fat implantation into sulcus vergeture after incision (4 cases of types II and 1 cases of types III) and undermining of the mucosa and sulcus vocalis resection (4 cases of types III, including 1 case of second operation). Phonatory function and video laryngostroboscopic data were evaluated before and after surgery and phonation training treatment in 18 patients. The mean follow-up time was 15.3 months. RESULTS: Ten cases of types II had excellent results after fat injection into vocal cords (n = 6) and fat implantation into sulcus vergeture after incision (n = 4). Three cases of types II improved after fat injection into vocal cords. Three cases of type III had excellent results after sulcus vocalis resection. One case of type III had excellent results by Second operation (sulcus vocalis resection) after fat injection into vocal cord. One case of type III improved by Second operation (fat injection into vocal cords) after fat implantation into sulcus vergeture after incision. No postoperative complications were noted. CONCLUSION: Accurate classification of sulcus vocalis is important and then adapt treatment to different types. Fat implantation into sulcus vergeture to type II and sulcus vocalis resection to type III were the best choice methods.

Adult↗

PubMedDate not supplied

Cytomorphology of the variants of small-cell carcinoma of the lung.

Cytologic classification of subtypes of small-cell carcinoma of the lung (SCCL) was retrospectively performed on respiratory material of 90 cases of lung carcinoma cytologically diagnosed as SCCL. Additionally, the cytologic material was reexamined for the presence of variants of SCCL in 68 cases of lung carcinoma whose types had not been conclusively defined by cytology. The type of lung cytology specimens reviewed were sputa, bronchial washings and brushings and fine needle aspirations. The study included review of pretreatment tumor histology, when present, and examination of the ultrastructure of the tumor in selected cases whose type had not been well defined by histology. Subtype recognition depended on the adequacy of the specimens rather than on the type of cytologic material examined. The cytologic subtyping was generally in agreement with the histologic subtyping of the tumor, except for cases in which SCCL was combined with other types of lung carcinoma, where certain discrepancies were noted.

Adenocarcinoma↗

PubMed2001

Impact of Heavy Metals on the Selective Phenotypical Markers of Pseudomonas aeruginosa.

The aim of this study was to characterize the impact of heavy metals on phenotypical markers of Pseudomonas aeruginosa. Twenty-two isolates of P. aeruginosa, either clinical (20) or secondary treated wastewater (2), were used to inoculate micro-ecosystems of sterile distilled water or secondary waste effluent in the presence of subminimal inhibitory concentrations of a variety of heavy metals commonly encountered in the aquatic naturally habitat (Ca2+, Co2+, Cr3+, Cu2+, Hg2+, Ni2+, Zn2+). Micro-ecosystems were exposed to visible light at laboratory temperature and individual strains were reisolated after a 1-, 3-, or 6-month period. The re-isolates (129) were characterized using hierarchical classification analysis in order to define affinities among variants of P. aeruginosa. Subsequently, discriminant analysis was used to detect eventual relationships among the different phenotypical markers studied. Results of the hierarchical classification, based on qualitative or quantitative approaches, showed clearly that incubation of P. aeruginosa in the presence of heavy metals altered the studied phenotypical markers, namely serotype, phage type, MIC of metals, and pyocin type. Discriminant analysis showed that the studied phenotypical markers could be classified into four clusters: C1 (L1 and L2 phage types, Hg tolerance and/or resistance, S2 serotype), C2 (P2 pyocin type, Cd tolerance and/or resistance, S1 serotype), C3 (Co and Cr tolerance and/or resistance) and C4 (P1 pyocin type, Ni, Zn, and Cu tolerance and/or resistance).

Journal Article↗

PubMed2004

A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin.

Non-syndromic syndactylies have been classified into five major types (I-V), all showing autosomal dominant mode of inheritance. Later, the classification was extended and three additional variants (VI-VIII) were defined. Type VII, the Cenani-Lenz syndactyly, is the only non-syndromic, autosomal recessive type. It is characterized by fusion of all phalanges with metacarpal synostosis, dislocated and dysplastic carpals and infrequently, radio-ulnar fusion. Here, we present a Pakistani family with a novel non-syndromic autosomal recessive syndactyly manifesting a unique combination of clinical features. In both hands, reduction of certain phalanges is evident. Radiological examination shows synostosis of third and fourth metacarpals bearing single phalanges. The first three toes are webbed, with hypoplastic terminal phalanx in all the toes. Besides Cenani-Lenz syndactyly, the phenotype segregating in our family is the second well-documented autosomal recessive, non-syndromic syndactyly. A phenotype similar to our family was described in a Turkish kindred but was considered to be a homozygous expression of type I syndactyly. Since the clinical features in our family had minimal overlap with syndactyly types I, II, and III, we have performed microsatellite marker screening to look for the cosegregation of this phenotype with any of the known loci for these respective types. We show that the phenotype in our family is not linked to chromosomal regions 2q34-q36, 2q31, and 6q22-q23 encompassing loci for syndactyly types I, II, and III.

Adult↗

PubMed1982

Ultrastructural characterization of de novo and secondary leukemias.

Cells from 95 patients with acute leukemia were studied by cytochemistry, light microscopy, and transmission electron microscopy (TEM), and were classified according to the French-American-British (FAB) guidelines. This group included 63 patients with acute nonlymphocytic leukemia (ANLL) de novo, 18 with acute lymphocytic leukemia (ALL), and 14 with ANLL as a second malignancy. In addition, 13 cases of chronic myelocytic leukemia in blast crisis were studied. Ultrastructural examination resulted in reclassification of 6 cases of ANLL de novo; two of these were reclassified from M2 (myeloblastic leukemia with maturation) to M3 variant (microgranular variant of hypergranular promyelocytic leukemia). The classification of the cases of CML in blast crisis was identical by light microscopy and TEM. IN 1 case of myeloblastic crisis, however, basophilic granules were demonstrated by TEM but were not appreciated by light microscopy. Classification of the cases of secondary leukemia was possible by light microscopy and cytochemistry in all 14 cases, but was often difficult since the cytochemical reactions were usually less intense than in de novo ANLL. This was particularly true in those cases classified as M1, and in such cases, TEM was required to confirm the diagnosis.

Acute Disease↗

PubMed2000

[Postural orthostatic tachycardia syndrome (POTS): etiology, diagnosis and therapy].

BACKGROUND: Since the renaissance of tilt table testing in clinical cardiology some 15 years ago, the syndromes of autonomic dysfunction with orthostatic intolerance underwent improved differentiation and classification. In the present review a variant of autonomic dysfunction with orthostatic intolerance--POTS (postural orthostatic tachycardia syndrome)--will be discussed. DIAGNOSIS AND TREATMENT: The affected patients present with orthostatic intolerance, postural tachycardia, exercise intolerance, fatigue, dizziness and in some cases with other dysautonomic symptoms such as gastrointestinal or sudomotor dysfunction. Together with the clinical history, tilt table testing is the cornerstone of diagnostic evaluation by which the syndrome can be distinguished from typical neurocardiogenic disorders. POTS is characterized by different subtypes; accordingly, therapy for relief of symptoms is variable and includes beta blockers for patients with the hyperadrenergic type and alphamimetics for those with partial dysautonomia. CONCLUSION: Although it is now possible to differ POTS from other forms of autonomic dysfunction, further research is warranted to clarify the pathophysiology of this syndrome and its subtypes and to improve therapeutic interventions.

Adrenergic Agents↗

PubMed2024

Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries.

PURPOSE: Monogenic rare diseases contribute significantly to infant deaths and pediatric hospitalizations and cause burden to the patients and their families. The American College of Medical Genetics and Genomics recommended in 2021 that carrier screening of autosomal recessive and X-linked conditions with a carrier frequency of ≥1/200 and a severe or moderate phenotype should be offered when planning or during pregnancy. In November 2023 gnomAD v4.0 was released. It contains in total 807,162 individuals, being nearly 5× larger than previous versions, which have been used to estimate gene carrier frequencies (GCF). METHODS: We utilized gnomAD v4.0 (GRCh38) to calculate the GCFs for available genetic ancestry groups for variants having pathogenic or likely pathogenic classification (>80% of submissions) in ClinVar. We calculated GCF separately for exomes and genomes, combined data, and at-risk couple frequencies (ACF) per genetic ancestry group. RESULTS: In total, 324 genes had a GCF ≥1/200 in at least 1 ancestry subgroup. The number of genes with GCF ≥1/200 varied greatly between subgroups. ACFs were more similar, Ashkenazi Jewish having the highest ACF of 6.11%. CONCLUSION: Improved understanding of carrier risks and updated carrier screening content would allow patients to make more informed reproductive decisions.

Humans↗

PubMed1984

Rare variant of complement C4 is seen in high frequency in patients with primary glomerulonephritis.

59 unselected patients with primary glomerulonephritis were phenotyped for alleles of the MHC-linked complement genes, C4A, C4B, and BF. A rare variant of the C4B locus, C4B*2.9, was found in 25% of these patients compared with only 2% of the normal population--a relative risk of 22.1 for glomerulonephritis in individuals with this variant. Subdivision of patients by histological classification of glomerulonephritis revealed a significant association of C4B*2.9 with the membranoproliferative form. There were no significant associations between primary glomerulonephritis or its subtypes and the other HLA markers tested.

Alleles↗

PubMed1996

Squamous cell carcinoma of the penis.

Penile tumors, although not frequent, represent a difficult diagnostic and therapeutic challenge. Of the malignant penile neoplasms, the most frequent is penile carcinoma, which includes squamous cell carcinoma and its well-differentiated variant, verrucous carcinoma. Current concepts about classification, epidemiology, pathogenesis, histopathology, diagnosis, staging, prognosis, and treatment are presented.

Carcinoma in Situ↗

PubMedDate not supplied

Anatomic variance of the coracoclavicular ligaments.

The coracoclavicular ligaments vary widely in morphology and anatomic descriptions. Few authors have adequately described the coracoclavicular ligaments' anatomy, and a number of discrepancies exist in the anatomy literature. This study examines the complex anatomy of the coracoclavicular ligaments and their relationships to clinically important bony landmarks. The geometric dimensions of 24 coracoclavicular ligament specimens from fresh human cadaveric shoulders were examined and quantified with 13 different measurements. Particular attention was given to any inter-specimen anatomic variance. The coracoid insertions of the conoid ligaments displayed high variance, with 33% (8/24) being confluent with the lateral fibers of the superior transverse scapular ligament. A further 15% (3/24) presented an additional lateral fascicle. The distance from the lateral trapezoid ligament to the distal clavicle averaged 15.3 mm. Three distinct and previously unreported conoid ligament variants lend themselves to an anatomic classification (types I, II, and III). A safety margin of 15 mm is suggested for distal clavicle resection in incomplete acromioclavicular joint injuries to preserve the intact coracoclavicular ligament.

Acromioclavicular Joint↗

PubMed1993

Medullary carcinoma of the thyroid with carcinoid-like features.

AIMS: To show that medullary carcinomas of the thyroid are morphologically indistinguishable from gut carcinoids: the value of histochemistry in their identification and differential diagnosis from metastatic carcinoid tumours to the thyroid and some follicular cell neoplasms. METHODS: 15 thyroid medullary carcinomas with features of gut carcinoids were histochemically studied for the presence of argyrophil and argentaffin granules, and calcitonin, thyroglobulin, and serotonin immunoreaction. RESULTS: Histological features of midgut (classic) carcinoids were observed in two tumours, foregut carcinoids in 12, and hindgut carcinoids in one. All tumours showed, to a greater or lesser extent, a calcitonin immunoreaction and argyrophilia. These markers were present only in a small area showing a classic pattern of thyroid medullary carcinoma in the hindgut carcinoid-like neoplasm. Argentaffin granules and serotonin immunostaining occurred in occasional cells from four foregut carcinoid-like tumours. Thyroglobulin was not expressed in all cases and amyloid stroma was expressed in three. CONCLUSIONS: In some cases a diagnosis of metastatic carcinoid tumour to the thyroid can be considered only after ruling out clinically and histochemically medullary carcinoma of the thyroid. Immunolocalisation techniques are also essential for the differentiation between medullary carcinoma and thyroid follicular cell neoplasms that resemble carcinoid tumours. It is proposed that this tumour variant to be incorporated into current classifications as another histological subtype of C cell carcinoma.

Adult↗

PubMed1986

Changes in the phenotype of human small cell lung cancer cell lines after transfection and expression of the c-myc proto-oncogene.

Small cell lung cancer growing in cell culture possesses biologic properties that allow classification into two categories: classic and variant. Compared with classic small cell lung cancer cell lines, variant lines have altered large cell morphology, shorter doubling times, higher cloning efficiencies in soft agarose, and very low levels of L dopa decarboxylase production and bombesin-like immunoreactivity. C-myc is amplified and expressed in some small cell lung cancer cell lines and all c-myc amplified lines studied to date display the variant phenotype. To investigate if c-myc amplification and expression is responsible for the variant phenotype, a normal human c-myc gene was transfected into a cloned classic small cell lung cancer cell line not amplified for or expressing detectable c-myc messenger RNA (mRNA). Clones were isolated with one to six copies of c-myc stably integrated into DNA that expressed c-myc mRNA. In addition, one clone with an integrated neo gene but a deleted c-myc gene was isolated and in this case c-myc was not expressed. C-myc expression in transfected clones was associated with altered large cell morphology, a shorter doubling time, and increased cloning efficiency, but no difference in L dopa decarboxylase levels and bombesin-like immunoreactivity. We conclude increased c-myc expression observed here in transfected clones correlates with some of the phenotypic properties distinguishing c-myc amplified variants from unamplified classic small cell lung cancer lines.

Animals↗

PubMed1996

Sulcus vocalis: a rational analytical approach to diagnosis and management.

The term sulcus vocalis has been applied to a spectrum of disorders ranging from minor vocal fold indentations to destructive lesions causing severe dysphonia. To clarify the pathophysiology and to develop a more rational approach to treatment, we report a series of sulcus patients including 20 surgical cases. Clinical and histopathologic analysis produced a clinically useful classification: type 1 is a physiologic variant accentuated by atrophy but with intact lamina propria; types 2 (sulcus vergeture) and 3 (sulcus vocalis) are characterized by severe dysphonia, loss of vibratory activity, and destruction of the functional superficial lamina propria. These latter cases respond favorably to microsurgery designed to remove destroyed tissue, release scar contracture, and promote mucosal redraping by regional undermining. Further study of the extracellular matrix of the superficial lamina propria (Reinke's space) might indicate a common pathway in the pathogenesis of sulcus deformities and other related benign vocal fold lesions.

Adult↗