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Results for “Recurrent variant”

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At least 109 records · Page 6Linked to original sources
PubMed1975

Defective neutrophil chemotaxis with variant ichthyosis, hyperimmunoglobulinemia E, and recurrent infections.

Host defense mechanisms were evaluated in a 4-1/2-year-old boy with recurrent pyogenic infections and a unique hyperkeratotic skin disorder. The patient's neutrophils were consistently defective in chemotactic responsiveness but had normal NBT reduction, glucose oxidation, and iodination. Serum concentrations of IgE were markedly elevated and the secondary antibody response was abnormal. No T-cell dysfunction was detected. These findings suggest a relationship between this patient and patients with other syndromes associated with recurrent infections, cutaneous disease, defective chemotaxis, immunodeficiency, and hyperimmunoglobulinemia E.

Chemotaxis↗
PubMed1998

Seasonal Affective Disorder and response to light in two patients with learning disability.

BACKGROUND: Seasonal Affective Disorder is now a well recognised variant of recurrent depressive disorder. No previous description of its occurrence in people with a learning disability has appeared. METHODS: Two patients are described who manifested seasonal cycles in mood related behaviour. RESULTS: Both patients were treated with bright artificial light and showed adequate clinical responses. CONCLUSION: Patients with a learning disability and recurrent behavioural changes indicative of a mood disorder should be assessed for the seasonal pattern of the illness and, if appropriate, given a trial of treatment with bright artificial light. LIMITATION: The data relates to two case reports without structured assessments. Further studies in this population should use standardised diagnostic criteria and systematic severity of depression scores. CLINICAL RELEVANCE: Patients with poor verbal skills may not be able to express their seasonal changes adequately but careful observation of the timing of behavioural abnormalities may aid the diagnosis of SAD leading to new therapeutic possibilities in phototherapy.

Adult↗
PubMed2005

Pharmacotherapy of seasonal affective disorder.

Seasonal affective disorder is a common variant of recurrent major depressive disorder or bipolar disorder. Treatment with bright artificial light has been found to be effective in this condition. However, for patients who do not respond to light therapy or those who lack compliance, conventional drug treatment with antidepressants also has been proposed. Substances with selective serotonergic or noradrenergic mechanisms should be preferred over older antidepressants. Although there are a number of open and controlled studies evaluating different compounds, these studies were often limited by relatively small sample sizes. Furthermore, there are no studies specifically addressing bipolar seasonal depression. This article will review the published literature on pharmacotherapy of seasonal affective disorder.

Dopamine Agonists↗
PubMed2006

Human centromeric alphoid domains are periodically homogenized so that they vary substantially between homologues. Mechanism and implications for centromere functioning.

Sequence analysis of alphoid repeats from human chromosomes 17, 21 and 13 reveals recurrent diagnostic variant nucleotides. Their combinations define haplotypes, with higher order repeats (HORs) containing identical or closely-related haplotypes tandemly arranged into separate domains. The haplotypes found on homologues can be totally different, while HORs remain 99.8% homogeneous both intrachromosomally and between homologues. These results support the hypothesis, never before demonstrated, that unequal crossovers between sister chromatids accumulate to produce homogenization and amplification into tandem alphoid repeats. I propose that the molecular basis of this involves the diagnostic variant nucleotides, which enable pairing between HORs with identical or closely-related haplotypes. Domains are thus periodically renewed to maintain high intrachromosomal and interhomologue homogeneity. The capacity of a domain to form an active centromere is maintained as long as neither retrotransposons nor significant numbers of mutations affect it. In the presented model, a chromosome with an altered centromere can be transiently rescued by forming a neocentromere, until a restored, fully-competent domain is amplified de novo or rehomogenized through the accumulation of unequal crossovers.

Centromere↗
PubMed2002

Fourth ventricle central neurocytoma: case report.

OBJECTIVE AND IMPORTANCE: Central neurocytomas (CNs) are typically located in the lateral ventricle. Primary origins in the fourth ventricle are very rare. We discuss the clinical symptoms, imaging findings, and microscopic features of these rare tumors. CLINICAL PRESENTATION: We report a case of a fourth ventricle CN in a 35-year-old male patient with the initial symptoms of progressive headaches and blurred vision for more than 2 months. Computed tomography and magnetic resonance imaging of the brain revealed a slightly enhanced tumor in the fourth ventricle, with obstructive hydrocephalus. INTERVENTION: Total surgical removal of the tumor was performed. The tumor was initially diagnosed as an oligodendroglioma. The final definitive diagnosis as a CN was made after special immunohistochemical studies. CONCLUSION: CNs located in the fourth ventricle are extremely rare. Immunohistochemical stains and transmission electron microscopy can provide useful diagnostic information. Total tumor excision is associated with favorable prognoses. Postoperative radiotherapy may be considered for cases of subtotal excision, anaplastic histological variants, or recurrent tumors.

Cerebral Ventricle Neoplasms↗
PubMed2005

Familial autoinflammatory diseases: genetics, pathogenesis and treatment.

PURPOSE OF REVIEW: The systemic autoinflammatory diseases are characterized by seemingly unprovoked inflammation, without major involvement of the adaptive immune system. This review focuses mainly on a subset of these illnesses, the hereditary recurrent fevers, which include familial Mediterranean fever, the tumor necrosis factor receptor-associated periodic syndrome, the hyperimmunoglobulinemia D with periodic fever syndrome, and cryopyrin-associated periodic syndromes. This review elucidates how recent advances have impacted diagnosis, pathogenesis, and treatment. RECENT FINDINGS: More than 170 mutations have been identified in the four genes underlying the six hereditary recurrent fevers. Genetic testing has broadened the clinical and geographic boundaries of these illnesses, given rise to the concept of the cryopyrin-associated periodic syndromes as a disease spectrum, and permitted diagnosis of compound heterozygotes for mutations in two different hereditary recurrent fever genes. Genetics has also advanced our understanding of amyloidosis, a complication of the hereditary recurrent fevers, and suggested a possible role for common hereditary recurrent fever variants in other inflammatory conditions. Recent advances in molecular pathophysiology include the elucidation of the N-terminal PYRIN domain in protein-protein interactions, the description of the NALP3 (cryopyrin) inflammasome as a macromolecular complex for interleukin-1beta activation, and the identification of signaling defects other than defective receptor shedding in patients with tumor necrosis factor receptor-associated periodic syndrome. These molecular insights form the conceptual basis for targeted biologic therapies. SUMMARY: Advances in molecular genetics extend our ability to recognize and treat patients with systemic autoinflammatory diseases and inform our understanding of the regulation of innate immunity in humans.

Autoimmune Diseases↗
PubMed1997

Seasonal affective disorder in Australia: is photoperiod critical?

OBJECTIVES: Seasonal affective disorder (SAD) is a variant of recurrent depression in which episodes are linked to a particular season, typically winter. SAD is understood as the extreme end of a continuum of seasonality in the general population. Photoperiod (the timing and duration of daylight) has been assumed to be aetiologically critical. The present research used a survey design to investigate the assumed centrality of photoperiod for SAD/seasonality in Australia. Two hypotheses were tested: that self-reported seasonality does not increase further from the equator and that seasonality does not stand alone from non-seasonal neurotic complaints. METHOD: The sampling frame used was adult females on the Australian Twin Registry roll. A sample of 526 women residing across the latitudes of Australia responded to a survey based around the Seasonal Pattern Assessment Questionnaire (SPAQ). The SPAQ asks respondents to retrospectively report on season-related changes in mood and behaviour. The survey also contained three questionnaire measures of neurotic symptoms of anxiety and depression: the General Health Questionnaire (GHQ), the Community Epidemiological Survey for Depression (CES-D) and the State-Trait Anxiety Inventory-Trait (STAI-T). RESULTS: Self-reported seasonality did not correlated with latitude (r = 0.01, NS). On the other hand, a substantial relationship was found between seasonality and each of the measures of non-seasonal complaints: GHQ (r = 0.35, p < 0.001); CES-D (r = 0.35, p < 0.001); and STAI-T (r = 0.30, p < 0.001). CONCLUSIONS: Within the limitations of a design based on retrospective self-report, the findings of the present study suggest that the diathesis for SAD/seasonality may not be photoperiod-specific. At least in Australia, there is provisional support for the proposal that human seasonality may have a broader psychological component. The findings are discussed in terms of established research into normal mood, trait personality and non-seasonal depression.

Adolescent↗
PubMedDate not supplied

[Major aphthous stomatitis (Sutton's disease): etiopathogenesis, histological and clinical aspects].

Major aphthous stomatitis (Sutton's disease) is a clinical variant of recurrent aphthous stomatitis differentiated by its high level of morbidity. It is generally found in areas of non-keratinized mucosa and is characterised by the presence of necrotic giant ulcers accompanied by intense pain. While this pathology has been the subject of molecular studies, its etiopathogenesis is still unknown. The most widely accredited hypothesis is that it represents an immune mechanism, namely the immunological response of mucosa with antigenic anomalies, modulated by altered local reactivity and influenced by triggering factors. After an extensive review of the various etiopathogenetic hypotheses, clinical and pathological aspects, the authors outline a number of therapeutic protocols including the use of topical and systemic cortisone, immunomodulators and alternative therapies like laser and ultrasound, or medications to protect the ulcers. They stress that the lack of etiopathogenetic uniformity precludes any specific treatment.

Adjuvants, Immunologic↗
PubMed2005

Primary intimal sarcoma of the thoracic aorta.

Primary aortic tumors are well known for both their rarity and variability in clinical presentation and usually are diagnosized post-operatively or by post-mortem examination. Intimal sarcoma is a recurrent histological variant and the involvement of the thoracic aorta is an unusual presentation. Angiography and computed tomography are accurate methods to evaluate aortic tumors though transesophageal echocardiography is actually used for the differential diagnosis. Here, we describe an unusual intimal sarcoma of the thoracic aorta whose clinical feature strongly mimicked a diffuse thrombotic disease.

Aorta, Thoracic↗
PubMed1989

Papillary thyroid cancer with unusually aggressive behaviour. Case report.

A 22-year-old woman underwent thyroid lobectomy for papillary carcinoma (follicular variant). Local recurrences 4 and 7 months later, with vascular invasion and extrathyroid spread, required extensive surgery and radiotherapy. Ipsilateral lobectomy with near-total or total contralateral lobectomy is advocated for treatment of papillary thyroid cancer.

Adult↗
PubMed1980

[Primary varicosis of the lower extremity (author's transl)].

Primary varicosis is due to congenital or acquired defects of the venous wall and valves. Subjective patient complaints are often different and even in contrast to clinical findings. The combination of insufficiency of the large superficial veins and insufficiency of the perforating veins often leads to chronic venous insufficiency with crural ulceration. Phlebography is indicated prior to surgery in order to evaluate the deep and the perforating veins and to check for variants. The recurrance rate for varicosis is low if all insufficient superficial and perforating veins are made functionless.

Adult↗
PubMed1994

Oral findings, treatment and follow-up of a case with major aphthous stomatitis (Sutton's disease).

Major aphthous stomatitis (Sutton's disease) is a clinical variant of recurrent aphthous stomatitis, which is noted for its high morbidity. Since the etiology of the disease is not clear, many therapies have been attempted. However, the controversial results hinder the adoption of a single mode of management. We present a 13-year-old boy with Sutton's disease, who was successfully treated with a combination of burst systemic prednisone (1 mg/kg/day for five days, thereafter half dose on alternate days for one week) and topical triamcinolone (four rinses a day). He continued the mouth rinses with the same interval. At the end of the first month, significant healing was observed and gradual tapering was recommended on the condition that the ulcers were well-controlled. The maintenance of steroid rinse once a day provided a symptom-free period of one year. Neither any withdrawal signs nor side affects were observed. Therefore, we think that this regimen should be considered as the treatment of choice in Sutton's disease along with a close follow-up even in childhood.

Adolescent↗
PubMed2002

Association study of MAO-A, COMT, 5-HT2A, DRD2, and DRD4 polymorphisms with illness time course in mood disorders.

The aim of our study was to investigate a possible influence of monoamine oxydase A (MAO-A), catechol-O-methyltransferase (COMT), serotonin receptor 2A (5-HT2A), dopamine receptor D2 (DRD2), and dopamine receptor D4 (DRD4) gene variants on timing of recurrence in mood disorders. Gene variants were determined using PCR-based techniques in 550 inpatients affected by recurrent mood disorders (major depressives: n = 212; bipolars: n = 338), rapid cycling mood disorder (n = 81), and 663 controls. We investigated possible genetic influences by comparing illness time course of subjects subdivided according to genotype using multivariate analysis of variance (MANOVA). We could not observe a significantly different time course. No demographic and clinical variables such as sex, age or polarity of onset, presence of psychotic features, genetic loading, or education level influenced the observed results. Our results suggest that MAO-A, COMT, 5-HT2A, DRD2, and DRD4 gene variants are not involved in susceptibility toward different time courses in mood disorders.

Adult↗
PubMed2025

Identification of a novel heterozygous GPD1 missense variant in a Chinese adult patient with recurrent HTG-AP consuming a high-fat diet and heavy smoking.

BACKGROUND: Glycerol-3-phosphate dehydrogenase 1 (GPD1) gene defect can cause hypertriglyceridemia (HTG), which usually occurs in infants. The gene defect has rarely been reported in adult HTG patients. In the present study, we described the clinical and functional analyses of a novel GPD1 missense variant in a Chinese adult patient with recurrent hypertriglyceridemia&#x2011;related acute pancreatitis (HTG-AP), consuming a high-fat diet and smoking heavily. METHODS: Exome sequencing was used to analyze the DNA of the adult patient's blood sample. It was found that there was a new variant of GPD1 gene-p.K327N, which was verified by gold standard-sanger sequencing method. In vitro, the corresponding plasmid was constructed and transfected into human renal HEK-293T cells, and GPD1 protein levels were detected. A biogenic analysis was performed to study the population frequency, conservation, and electric potential diagram of the new variant p.K327N. Finally, the previously reported GPD1 variants were sorted and their phenotypic relationships were compared. RESULTS: A novel heterozygous variant of GPD1, p.K327N (c.981G&#x2009;>&#x2009;C), was found in the proband. Furthermore, the patient's daughter carried this variant, whereas his wife did not carry the variant. The proband with obesity suffered eight episodes of HTG-AP from the age of 36 years, and each onset of AP was correlated to high-fat diet consumption and heavy smoking. In vitro, this variant exerted a relatively mild effect on GPD1 functions, which were associated with its effect upon secretion (~&#x2009;25% of secretion decreased compared with that of the wild-type); thus, eventually impairing protein synthesis. Additionally, 36 patients with GPD1 variants found in previous studies showed significant transient HTG in infancy. The proband carrying the GDP1 variant was the first reported adult with recurrent HTG-AP. CONCLUSION: We identified a novel GPD1 variant, p.K327N, in a Chinese adult male patient with recurrent HTG-AP. The variant probably exerted a mild effect on GPD1 functions. The heterozygosity of this GPD1 variant, in addition to high-fat diet consumption and heavy smoking, probably triggered HTG-AP in the patient.

Adult↗
PubMed2001

Genetic and biological variation in equine infectious anemia virus Rev correlates with variable stages of clinical disease in an experimentally infected pony.

Genetic and biological variation in the regulatory protein Rev of equine infectious anemia virus (EIAV) were examined throughout a clinically dynamic disease course of an experimentally infected pony. Following infection with the virulent EIAV(Wyo), the pony underwent a variable disease course, including an acute fever episode at 12 days postinfection (DPI), multiple recurrent fever episodes until 135 DPI, a prolonged subclinical period, and two late fever episodes. Viral RNA was isolated from the inoculum and sequential sera samples, and the rev exon 2/gp45 overlapping ORFs were amplified, cloned, and sequenced. Novel variants were found throughout infection, and genetic analyses indicated that both the Rev and gp45 ORFs were under selective pressure. The Rev variant predominant in the inoculum, R1, remained predominant during the early periods following infection (until 35 DPI); however, R1 was replaced by new predominant variants during the recurrent fever period (67-135 DPI). R1 reemerged as the predominant variant during the afebrile period, but a new predominant variant, R93, was associated with the late fever episodes. Rev variants predominant during recurrent febrile and late-febrile periods had significantly higher Rev-mediated nuclear export activity than the variants predominant during the acute and afebrile periods. Statistical correlation was found between Rev activity and different stages of clinical disease. Together, these results suggest that genetic and biological variation in rev may be a contributing factor in EIAV disease progression.

Amino Acid Sequence↗