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At least 55 records · Page 3Linked to original sources

Idiopathic severe recurrent transverse myelitis: a restricted variant of neuromyelitis optica.

Recurrent idiopathic transverse myelitis occur in multiple sclerosis (MS) and neuromyelitis optica (NMO). In NMO, acute optic neuritis and myelitis occur, either monophasic or relapsing, without clinical manifestations of involvement of other parts of the central nervous system (CNS). Recent evidence suggests that NMO is different from multiple sclerosis. The authors reported two patients having severe recurrent transverse myelitis sparing the optic nerves and cerebral hemispheres. Both patients had longitudinally extensive myelitis in some attacks with poor neurological outcome despite aggressive immunomodulatory therapy. One patient had prominent clinical features of brainstem injury with radiological and histological confirmation of brainstem involvement, and the other patient had trigeminal neuralgia suggestive of possible brainstem dysfunction. Histologically, prominent necrosis and neutrophilic infiltration of spinal cord tissue without eosinophils or hyalinized vessels were observed, and oligoclonal bands were absent in their cerebrospinal fluid. It is likely to be a distinct idiopathic inflammatory demyelinating disorder restricted to the spinal cord and brainstem different from MS, but within the spectrum of NMO with probably an autoimmune basis.

Adult↗

[Treatment by thalidomide of chronic multiforme erythema: its recurrent and continuous variants. A retrospective study of 26 patients].

INTRODUCTION: The objective of this study was to evaluate the efficacy of thalidomide in the treatment of chronic erythema multiforme unresponsive to usual treatments. PATIENTS AND METHODS: Twenty-six patients with chronic erythema multiforme were given thalidomide 100 mg/day after other treatments had failed, particularly acyclovir and prednisone. RESULTS: Twenty patients had recurrent erythema multiforme and were given thalidomide at the beginning of an episode. The duration of the episodes was reduced by 11 days on the average. Six of the patients had subintrant erythema multiforme and were given continuous treatment. Lesions disappeared within 5 to 8 days and remission was maintained with low dose-treatment. DISCUSSION: The spectacular results obtained here should be verified in a controlled study.

Adolescent↗

The accessory middle cerebral artery--a variant of the recurrent artery of Heubner (A. centralis longa)?

Three accessory middle cerebral arteries are described in two out of 75 brains dissected under the operating microscope. Each artery originated from the anterior cerebral artery, lateral to its junction with the anterior communicating artery, followed the proximal segment (A1, pars precommunicalis) of the anterior cerebral artery, then the horizontal portion (M1, pars sphenoidalis) of the middle cerebral artery towards the lateral sulcus. Each supplied the lateral orbital gyrus, the gyrus longus of the insula, part of the putamen, the head of the caudate nucleus and the anterior limb of the internal capsule. The presence of the accessory middle cerebral artery is discussed with regard to the recurrent artery of Heubner (A. recurrens, A. centralis longa).

Aged↗

[An unusual variant of secondary recurrent syphilis in an HIV-infected patient].

Asymptomatic syphilis eventually manifesting with symptoms of the secondary disease was observed in a male with HIV-infection. Large focuses of alopecia reported in this male are suggested as a clinical marker of HIV-infection. A defective antibody response to T. pallidum in HIV-infection has been confirmed. Levomycetin (0.5 g 4 times a day in 5-20-day courses at two-week intervals) proved highly effective as compared to penicillin, erythromycin and tetracycline administration due to poor tolerance of the above antibiotics.

Adult↗

[Thymoma implants in the pleura as a variant of intrathoracic recurrence].

Extended thymectomy was carried out in 152 patients with various types of thymomas, 61 ones with noninvasive and 91 with invasive ones; in the latter case surgery was followed by chemo- and radiotherapy. Three patients with non-myasthenic invasive thymomas (NMIT) (2.0% of all patients or 10.7% of NMIT ones) developed thymoma implantations to the pleura in the course of 2 years postoperation. All these patients developed pleural or pulmonary invasion by the moment of surgery. Postoperative chemo- and radiotherapy did not prevent intrathoracic recurrence. One of the possible pathogenetic mechanisms of thymoma pleural implantation may be pleural seeding resultant from invasive tumor growth. Pleurisy associated with implantation is nonspecific and easily arrested.

Adult↗

A new variant of trichothiodystrophy with recurrent infections, failure to thrive, and death.

Two brothers demonstrated a severe variant of trichothiodystrophy. Both had brittle hair, developmental delay with severe failure to thrive, recurrent infections, cataracts, and angioendotheliomas of the liver at autopsy. The elder died at 12 weeks, the younger at 6 months. The younger had the typical appearance of banded hair on polarizing microscopy and a low cystine content measured by ion exchange chromatography. The history, clinical findings, and basic defects of trichothiodystrophy are discussed.

Bacterial Infections↗

[Reactive depression in adolescents].

On the basis of studying the characteristic features of the clinical pattern of depression in 105 patients, the author specifies four variants of psychogenic depressive states in adolescence: (1) the basic variant characterized by the development of typical depression; (2) a variant of subclinical psychogenic depressions with behavioral disturbances; (3) a variant of recurrent depressions; (4) a variant of the so called anaclitic depressions. Specific characteristics of their clinical picture and course were ascertained and the features distinguishing them from psychogenic depressions in adults are presented.

Adjustment Disorders↗

Coronary artery surgery for recurrent ventricular arrhythmias in patients with variant angina.

Two patients with Prinzmetal's variant angina had recurrent episodes of resting chest pain, ST segment elevation, QRS widening, ventricular tachycardia, and ventricular fibrillation. These eqisodes were unresponsive to medical therapy including lidocaine, procaine amide, and quinidine sulfate. Coronary arteriography revealed severe obstructive coronary artery disease, involving more than one coronary artery, in both patients. Aorticocoronary saphenous vein grafts were utilized to bypass significant disease in each patient. In one patient blood flow through the grafts was measured at 90 and 65 ml per minute, respectively, at operation and patent grafts were demonstrated six months postoperatively. Neither patient has had recurrence of chest pain or evidence of ventricular tachycardia at one year or 2 1/2 years postoperatively. Postoperative resting and maximal exercise ECG's are normal. Coronary artery surgery may be an effective method of therapy for ischemic ventricular tachycardia when medical therapy fails.

Adult↗

Nonsyndromal anencephaly: possible autosomal recessive variant.

The recurrence of anencephaly in families has been explained on a multifactorial basis. We present two unrelated families with three sibships of several nonsyndromal anencephalics including two pairs of concordantly affected like-sex twins. A rare autosomal recessive variant is proposed and inheritance is discussed in view of parental consanguinity among the two affected sibships in one family.

Anencephaly↗

Human leukocyte antigen and cytokine gene variants as predictors of recurrent Chlamydia trachomatis infection in high-risk adolescents.

Antigen presentation and immune activation are essential to the effective control of infectious diseases. In 485 North American adolescents at high risk for genital Chlamydia trachomatis infection, we found 2 human leukocyte antigen variants (DRB1*03-DQB1*04 and DQB1*06) to be associated with recurrent Chlamydia infection (adjusted relative odds [RO], >2.0; P<.01, for both variants). A G-C-C haplotype corresponding to variants at IL10 (encoding interleukin-10 [IL-10]) promoter positions -1082, -819, and -592 was underrepresented in individuals with recurrent infection (RO, 0.59; P=.046). These genetic associations were independent of nongenetic factors, including number of sex partners, race, sex, duration of follow-up, and human immunodeficiency virus type 1 seropositivity. Consistent with the observed IL10 association, cervical secretions in female adolescents without the IL10 G-C-C haplotype had elevated IL-10 concentrations after Chlamydia infection, which may reflect involvement of a Chlamydia-specific mechanism for genetically mediated, differential IL-10 expression in the genital tract.

Adolescent↗

[Recurrent angioedema with eosinophilic dermatitis--minus variants of the hypereosinophilic syndrome].

Recurrent angio-oedema with eosinophilic dermatitis is characterized by the following symptoms: persistent hypereosinophilic, episodes of angio-oedema, urticarial papular and papulo-pustular exanthema, episodes of fever, as well as increased IgE and IgM levels. Eosinophilic dermatitis with subcorneal pustulation can be seen on histological examination. This disease should be distinguished from the classical hypereosinophilic syndrome because of the absence of internal symptoms and because the prognosis is apparently favourable. Internal corticosteroids are the therapy of choice.

Adolescent↗

Genomic and computational analysis of variants in telomere regulatory genes in subjects with bone marrow failure.

Telomere Biology Disorders (TBDs) are a genetically heterogeneous and often under-recognized cause of Bone Marrow Failure Syndromes (BMFS), driven by defective telomere maintenance and progressive telomere attrition. We performed an integrated genomic, telomeric and computational analysis in 118 subjects presenting clinical features of BMFS to delineate the contribution of Telomere Regulatory Genes (TRGs) variants to disease pathogenesis. Whole exome sequencing (WES) identified pathogenic (18.18%), likely pathogenic (27.27%) and rare variants of uncertain significance (54.54%) in 27 subjects (22.9%) across five TRGs: RTEL1, TERT, TINF2, NOP10, and WRAP53. Telomere Length (TL) assessment revealed significant telomere shortening in TRG variant-positive subjects compared with age-matched controls, with the most profound attrition observed in individuals harboring de novo TINF2 gene variants. RTEL1 emerged as the most frequently affected gene, with recurrent clustering of variants within its C-terminal regulatory region. A familial NOP10 variant, Asp12His, segregated with cutaneous pigmentation and hematological abnormalities consistent with the established role of NOP10 in dyskeratosis congenita, further broadening the known mutational spectrum of the gene. Structure-guided in-silico analyses predicted that both novel and recurrent variants disrupt protein stability, telomerase assembly or trafficking and shelterin complex integrity. Reduced TERT expression and a significant inverse correlation between telomere length and clinical severity further underscored the functional impact of TRG defects. Collectively, this study provides the first comprehensive characterization of TRG variants in the Indian BMFS cohort and highlights the utility of integrating genomic sequencing, telomere length measurement and computational modeling to improve diagnostic precision, variant interpretation and clinical stratification in TBDs.

Journal Article↗

An unusual extrauterine variant of adenosarcoma with multiple recurrences over 16 years.

An unusual extrauterine (pelvic) variant of adenosarcoma is presented. A benign-appearing epithelium resembling fallopian tube epithelium is integrally mixed with malignant stroma that in all areas sampled is low-grade leiomyosarcoma. The tumor has behaved as a low-grade malignancy with four local recurrences over a 16-year period. Extrauterine adenosarcomas have rarely been reported in the literature; and one in which the stromal component is histologically all of smooth muscle differentiation is more unusual.

Adenosarcoma↗

Recurrent neck pain as a variant of migraine: description of four cases.

Four patients who had recurrent attacks of idiopathic unilateral neck pain and tenderness of the ipsilateral carotid artery are described. Two patients had never had headache. The other two had migraine without aura. All patients had dilatation of extracranial arteries during the attacks (telethermographic examination), oculosympathetic hypofunction (pupillary tests), and positive responses to vasoactive drugs which are commonly used for migraine treatment. Recurrent neck pain involving the carotid artery seems to be a variant form of migraine that may occur alone or in association with headache in patients with involvement of extracranial arteries.

Adult↗