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PubMed2004

The genetic contribution towards preterm delivery.

Indirect evidence supports a possible genetic predisposition towards preterm birth. The recurrence of spontaneous preterm delivery in individual women, families and ethnic groups suggests a long-acting aetiology, consistent with a genetic factor. Genetic contributions from both mother and fetus probably play a role in determining gestational length. Preliminary genetic association studies implicate gene variants of tumor necrosis factor-alpha (TNF-alpha) in preterm birth. Further understanding of a genetic predisposition begins with investigation of the pathogenesis of preterm delivery. Technological advances in the study of the human genome (genomics) and protein complement (proteomics) will allow identification of novel genes and proteins involved in preterm delivery. Insight into the complex gene regulation and protein production in preterm delivery may contribute to an understanding of a genetic basis. A discovered genetic factor may lead to medical breakthroughs and reductions in prematurity, neonatal morbidity and mortality.

Adult↗
PubMed1990

Low-grade intraosseous osteosarcoma.

A study of 80 well-differentiated osteosarcomas, 16 from the Mayo Clinic files and 64 from our consultation files, revealed that males and females were about equally affected, most of the patients were young adults, and skeletal distribution was similar to the distribution seen in conventional osteosarcoma. Radiographs generally showed poor margination, suggestive of malignancy. Histologically, the tumors were composed of spindle cells with only minimal atypia. Some tumors had bone spicules similar to those seen in fibrous dysplasia. An invasive growth pattern was the most helpful feature in differentiating low-grade osteosarcoma from fibrous dysplasia. Initial treatment was highly variable. Local excision was almost always associated with recurrence. Wide excision was almost never followed by recurrence. The recurrent tumor was a high-grade, conventional osteosarcoma in 15% of the patients, and this was associated with a poor prognosis. Wide excision seems to be the treatment of choice for this very rare variant of osteosarcoma.

Adolescent↗
PubMed1990

Flow cytometric and histological analysis of ductal carcinoma in situ of the breast.

Using archival paraffin wax embedded tumour we have investigated histological grade, DNA ploidy, S phase fraction and proliferative index in 74 patients with symptomatic ductal carcinoma in situ (DCIS) of the breast. Nine patients developed local recurrence, six invasive in character. No patients with the cribriform subtype of DCIS developed local recurrence. The cribriform subtype showed a significantly lower rate of DNA aneuploidy and a lower proliferative index than the other subtypes. Cribriform tumours were almost exclusively well differentiated in contrast with the comedo and solid variants. Our results suggest the cribriform variant is less aggressive than other subtypes of DCIS. This has possible implications for management of these lesions.

Adult↗
PubMed2005

Architectural mutation and leaf form, for the palmate series.

Palmate leaf form occurs in both the ferns and angiosperms. The palmate leaf form, and its variants, is present in distantly separated clades within both ferns and angiosperms. There tend not to be intermediate forms which link these palmate leaves to other leaf forms within the taxonomic groups in question. The recurrence of homoplasious leaf forms in separate taxonomic groups could be a consequence of the algorithmic like mode of leaf growth. Leaves develop through the reiteration of modular units. It is probable that the homoplasious leaf forms in different taxa are derived independently through re-combinations of the parameters in the basic leaf form development algorithm.

Algorithms↗
PubMed2005

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.

Timothy syndrome (TS) is a multisystem disorder that causes syncope and sudden death from cardiac arrhythmias. Prominent features include congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities, and autism. All TS individuals have syndactyly (webbing of fingers and toes). We discovered that TS resulted from a recurrent, de novo cardiac L-type calcium channel (CaV1.2) mutation, G406R. G406 is located in alternatively spliced exon 8A, encoding transmembrane segment S6 of domain I. Here, we describe two individuals with a severe variant of TS (TS2). Neither child had syndactyly. Both individuals had extreme prolongation of the QT interval on electrocardiogram, with a QT interval corrected for heart rate ranging from 620 to 730 ms, causing multiple arrhythmias and sudden death. One individual had severe mental retardation and nemaline rod skeletal myopathy. We identified de novo missense mutations in exon 8 of CaV1.2 in both individuals. One was an analogous mutation to that found in exon 8A in classic TS, G406R. The other mutation was G402S. Exon 8 encodes the same region as exon 8A, and the two are mutually exclusive. The spliced form of CaV1.2 containing exon 8 is highly expressed in heart and brain, accounting for approximately 80% of CaV1.2 mRNAs. G406R and G402S cause reduced channel inactivation, resulting in maintained depolarizing L-type calcium currents. Computer modeling showed prolongation of cardiomyocyte action potentials and delayed afterdepolarizations, factors that increase risk of arrhythmia. These data indicate that gain-of-function mutations of CaV1.2 exons 8 and 8A cause distinct forms of TS.

Action Potentials↗
PubMed2004

Cardiopathia fantastica: the cardiac variant of Munchausen syndrome.

Munchausen syndrome is a rare condition in which the patient repeatedly seeks medical care for factitious illnesses. Cardiac Munchausen syndrome was first reported in 1953 and later referred to as cardiopathia fantastica. It is characterized by clinical manifestations of acute cardiac disease that are feigned and recurrent. Cardiopathia fantastica can have a variety of presentations similar to true cardiac disease. Most cases have presented with chest pain simulating acute coronary artery disease, but arrhythmias, hypertensive crises, abnormal biochemistry, and electrocardiographic findings have also been noted. These patients are willing to undergo expensive, invasive, and risky procedures to evaluate their simulated illness. This condition is likely to be significantly underreported. In some patients, the presence of abnormal findings that are clinically insignificant may complicate the investigative approach. Patients with this disorder consume a disproportionate amount of health care dollars and sometimes are left with residual deficits as complications of invasive procedures. In this review, we discuss the recognition, manifestations, and treatment of cardiopathia fantastica.

Arrhythmias, Cardiac↗
PubMed2001

Etiologic yield of autistic spectrum disorders: a prospective study.

At present, the etiologic yield in community-derived samples of young children with an autistic spectrum disorder is not known. To address this question, all young children (under 5 years of age) referred for an initial assessment to ambulatory pediatric neurology or developmental pediatric clinics at a tertiary university center over an 18-month period for a suspected developmental delay were prospectively identified. Specific diagnostic testing was left to the discretion of the evaluating physician. In all, 50 children with an autistic spectrum disorder were assessed. Detailed history or physical examination was informative with respect to suggesting the possibility of an underlying etiology in a minority (10/50,20%). Genetic studies (FMR-1, karyotype), electroencephalography (EEG), and neuroimaging were carried out in a majority (42/50, 34/50, and 33/50, respectively) of the children, for the most part on a screening rather than an indicated basis (31/42, 34/34, and 28/33, respectively). Etiologic yield was low (1/50, 2%), with only a single child identified with a possible Landau-Kleffner variant on sleep EEG tracing. The results suggest an evaluation paradigm with reference to etiologic determination for young children with autistic spectrum disorder that does not presently justify metabolic or neuroimaging on a screening basis. Recurrence risk and treatment implications, however, suggest that strong consideration be given to genetic (FMR-1, karyotype) testing and EEG study despite a relatively low yield.

Autistic Disorder↗
PubMed2001

A hepatocellular carcinoma-specific adenovirus variant, CV890, eliminates distant human liver tumors in combination with doxorubicin.

Hepatocellular carcinoma (HCC) is the third leading cause of cancer death in the world. Tumor resection remains the only curative treatment but is often not possible because of advanced stage and frequently unsuccessful because of intrahepatic or distant tumor recurrence. alpha-Fetoprotein (AFP), a tumor marker currently used for the diagnosis and management of HCC, is an oncofetal protein expressed in a majority of HCCs but rarely in normal hepatocytes. Because AFP gene expression is tightly regulated at the level of transcription, AFP transcriptional regulatory elements (TRE) are excellent candidates for generating HCC-specific oncolytic adenoviruses. We devised a new strategy for the AFP TRE to control an artificial E1A-IRES-E1B bicistronic cassette in an adenovirus 5 vector (Ad5) and constructed an HCC-specific oncolytic virus, CV890. In vitro, CV890 expression of the E1A and E1B genes, virus replication, and cytopathic effects were examined by Northern blot, Western blot, virus yield assay, and 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide assay in AFP-producing cell lines (HepG2, Huh7, Hep3B, PLC/PRF/5, and SNU449), non-AFP-producing cell lines (Sk-Hep-1, Chang liver cell, LNCaP, HBL-100, PA-1, UM-UC-3, SW 780, Colo 201, and U118 MG), and non-AFP-producing human primary cells (lung fibroblast, bladder smooth muscle, and mammary epithelial). CV890 efficiently replicates in and destroys AFP-producing HCC cells as well as wild-type Ad5, but replication is highly attenuated in non-AFP-producing HCC cells or non-HCC cells. CV890 produced 5,000-100,000-fold less virus than wild-type Ad5 in non-AFP-producing cells. CV890 was attenuated 100-fold more than CV732, a virus containing the AFP TRE driving the E1A gene alone, in non-AFP-producing cells. These studies demonstrated that expression of both E1A and E1B genes under the control of a bicistronic AFP-E1A-IRES-E1B cassette yielded improvements in virus specificity equivalent to driving the E1A and E1B genes with two independent TREs yet requires only one TRE thereby conserving genomic space within the virus. Significantly, CV890 produced nearly the same yield of virus in cells that produced AFP over a 75-fold range, from a low of 60 ng AFP/10(6) cells/10 days to as high as 4585 ng AFP/10(6) cells/10 days. In vivo, antitumor efficacy of CV890 was examined in BALB/c-nu/nu mice containing large s.c. HepG2 or Hep3B tumor xenografts. Tumor volume of distant xenografts dropped below baseline 4 weeks after a single i.v. injection. Combination of CV890 with doxorubicin demonstrated synergistic antitumor efficacy, yielding complete elimination of distant Hep3B tumors 4 weeks after a single i.v. administration of both compounds. Our results support the clinical development of CV890 as an antineoplastic agent for the treatment of localized or metastatic HCC.

Adenoviridae↗
PubMed2002

[Pharmacotherapeutic aspects of early postoperative period in patients with complicated gastroduodenal ulcer].

There were analyzed the immediate and remote results of treatment of 556 patients with complicated gastroduodenal ulcer, in whom radical operation and ulcer excision with various variants of medicinal correction in early postoperative period were performed. The best immediate result was achieved after performance of radical operation (vagotomy, thrifty gastric resection). But in 5-10 years after vagotomy performance the ulcer recurrency have occurred in 11.3% of observations. Excision of the ulcer morphological substratum in combination with antiulcer medicinal therapy in early postoperative period constitutes an alternative method of treatment of such patients. Important role of Helicobacter pylori in the ulcer complications occurrence was established, demanding application of antibacterial preparations. Of many schemes of antibacterial therapy existing preference should be given to combination of macrolides (clarythromycine) with nitroimidazole (tinidazole) and the proton pump inhibitors (pylobact) as most secure and quite effective one.

Adolescent↗
PubMed2002

[Mutation of a 5,10-methylenetetrahydrofolate reductase gene in systemic lupus erythematosis and antiphospholipid syndrome].

AIM: To study prevalence of mutation C677T in gene 5.10-MTHFR in systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS) as well as in persons free of symptoms of systemic diseases of the connective tissue. MATERIAL AND METHODS: 85 patients participating in the study were divided into three groups: those with SLE (n = 17), with SLE + APS (n = 42), with primary APS (n = 26). The control group consisted of 30 persons without SLE or APS. 55% of the examinees had thrombotic complications of different location. The diagnosis of the mutation was made using DNA isolated from the peripheral blood with standard methods and polymerase chain reaction. Allele (homozygous or heterozygous) condition of the mutation was confirmed by means of allele-specific primers. RESULTS: Mutation C677T in MTHFR gene was found in 40 of 85 patients (47%); 11(27.5%) had a homozygous variant, 29(72.5%)--heterozygous. C677T mutation occurred in 5 of 17 SLE patients (29%), it was in all the cases heterozygous. In primary and secondary APS mutation was detected in 51.5% (35 of 68 patients). Recurrent thrombosis occurred more frequently in patients with mutation MTHFR. Three and more episodes of thrombosis were registered in 17 of 40 patients with mutation C677T against 9 of 44 patients without the mutations (p = 0.04). CONCLUSION: Relationship between elevated blood levels of APL and MTHFR mutation points to the fact that this genetic marker is an additional thrombogenic factor in APS. Mutation C677T in MTHFR gene in APS patients correlates with recurrent thrombosis.

5,10-Methylenetetrahydrofolate Reductase (FADH2)↗
PubMed2005

[Synovial sarcoma of the head and neck: two cases report].

UNLABELLED: Synovial sarcomas are soft tissue tumors that rarely occur in the head and neck The purpose of this report is to accrue data on this sarcoma at a rare site, and to highlight the histopathological differential diagnosis with other cervical tumors. MATERIALS AND METHODS: Two cases of cervico-facial tumors were reported in 26 and 27 year old women. RESULTS: Histologically, these tumors were classified into monophasic and biphasic variants. Immunohistochemistry plays a major part in the differential diagnosis, enabling the demonstration of epithelial differentiation. Radical surgery was the mainstay of treatment with post-operative radiotherapy for residual disease in one case. Local recurrence was developed in the patient who had only surgical treatment. DISCUSSION: Synovial sarcomas are a rare soft tissue malignancies and the head and neck region location accounts for 3-5% of them. The rarity of this tumor in the head and neck and its multitude of his histopathologic features are responsible for frequent initial misdiagnosis. Histologic, immunohistochemic and characteristic chromosomal translocation findings are necessary for diagnosis. The poor prognosis of this sarcoma justified a radical surgery with post-operative radiotherapy.

Adult↗
PubMedDate not supplied

[BRAF initiating mutations in the papillary thyroid carcinoma].

Among genetic alterations most important for the initiation of papillary thyroid carcinoma (PTC) is mutation T1799A in the BRAF gene which is the most frequent event (54.5%) in this type of thyroid cancer. It is seen in all stages, from microcarcinoma through clinically overt disease to anaplastic cancer. It has been shown that BRAF mutation is correlated with PTC histotype. It is identified most frequently in classical PTC and in tall cell variant. Moreover, BRAF mutation is described more often in older patients, whereas in young patients RET/PTC rearrangements dominate. In PTC cases with BRAF mutation V600E the prognosis is poorer, with more cancer invasiveness, metastasis and recurrence. The presence of BRAF mutation is related to the specific gene expression signature, different than in cancer cases showing RET/PTC rearrangement or no known initiating mutation.

Age Factors↗
PubMed1984

[Synovial sarcoma of the larynx. Case report and brief review of the literature].

Synovial sarcomas are connective tissue tumours. In most instances they are located at the extremities; a rare variant is known as orofacial synovial sarcoma. In the case under report, a synovial sarcoma of the larynx in a 19-year old man is described. 11 months after surgical removal of the tumour neither recurrence nor lymph node metastasis had occurred. The literature on this rare tumour is briefly reviewed.

Adult↗
PubMed1983

[Solitary chondromas and osteochondromas of the spine with myeloradicular compressive manifestations. Apropos of 6 surgically-treated cases].

3 spinal chondromas and 3 spinal osteochondromas are described and the relevant literature is reviewed. These oncotypes may remain symptomless or may present as a hard paravertebral swelling or with pain or, more rarely, with a slowly-developing neurological syndrome. Chondromas may appear at any age whereas osteochondromas are more likely to occur during the age of skeletal growth. Both have a predilection for males. Standard Xrays may be diagnostic in osteochondromas but do not always visualise chondromas, which may simulate malignant osteolytic lesions or giant cell tumors and their variants. Computed tomography is indispensable for defining the size of the lesion and its relationships with surrounding structures, for planning surgical treatment, and for following-up its evolution. For both oncotypes treatment is surgical. Recurrence is very rare even after subtotal removal. Malignant degeneration is likewise rare. Operative mortality is nil and neurological recovery is the rule.

Adult↗
PubMed1983

[Solitary chondromas and osteochondromas of the spine provoking myeloradicular compression. Apropos of 6 cases treated surgically].

3 spinal chondromas and 3 spinal osteochondromas are described and the relevant literature is reviewed. These oncotypes may remain symptomless or may present as a hard paravertebral swelling or with pain or, more rarely, with a slowly-developing neurological syndrome. Chondromas may appear et any age whereas osteochondromas are more likely to occur during the age of skeletal growth. Both have a predilection for males. Standard Xrays may be diagnostic in osteochondromas but do not always visualise chondromas, which may simulate malignant osteolytic lesions or giant cell tumors and their variants. Computed tomography is indispensable for defining the size of the lesion and its relationships with surrounding structures, for planning surgical treatment, and for following-up its evolution. For both oncotypes treatment is surgical. Recurrence is very rare even after subtotal removal. Malignant degeneration is likewise rare. Operative mortality is nil and neurological recovery is the rule.

Adult↗
PubMedDate not supplied

[Successful therapy of local recurrence of congenital mesoblastic nephroma].

A 3 1/2 month old girl was found to have a large abdominal tumor originating in the upper pole of the right kidney. At laparotomy the tumor had infiltrated the perirenal fat, the right lobe of the liver and the diaphragm. Partial nephrectomy was performed and the tumor was completely resected. However, an adequate safety margin could not be achieved. Histology showed a congenital mesoblastic nephroma of the cellular subtype. Postoperatively no chemotherapy was considered necessary. 11 months after diagnosis the patient had an extensive local recurrence with infiltration of the perirenal fat, mesenterium and colon. Complete resection could not be achieved and the tumor was classified as stage III. There was a striking morphological change from spindle cells in the initial tumor to malignant round cells in the relapse specimen. The patient was treated with Vincristine, Actinomycin-D and Adriblastin. Radiotherapy was not given. 38 months after relapse the patient is free of disease and developing normally. Our patient obviously had an aggressive variant of CMN. The significance of the potentially aggressive variant of CMN, atypical mesoblastic nephroma, is discussed and possibilities are suggested for management.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1984

Provocation of variant angina by alcohol ingestion.

The effect of alcohol on variant angina was studied in six patients who had a history of chest pain occurring with alcohol ingestion. On alcohol testing, Holter ECG monitoring was performed and a 12-lead ECG was recorded at the time of chest pain. In five, chest pain with ST elevation occurred 5.5 to 17.5 h after the ingestion of alcohol (100 to 150 ml as ethanol). These showed recurrent ST elevation on Holter ECG, most episodes being asymptomatic. Results of provocation testing were reproducible in all four patients in whom tests were repeated and ST elevation occurred in the same leads. No complications were observed. The Holter ECG revealed a higher heart rate after alcohol ingestion. The plasma level of alcohol was zero when angina occurred and plasma epinephrine, norepinephrine and serotonin were unchanged following alcohol ingestion. Alcohol ingestion may be a useful method of provoking variant angina, particularly in those who have a history of angina related to alcohol ingestion.

Adult↗
PubMed2005

Cutting edge: expression of IL-1 receptor-associated kinase-4 (IRAK-4) proteins with mutations identified in a patient with recurrent bacterial infections alters normal IRAK-4 interaction with components of the IL-1 receptor complex.

In a patient with recurrent bacterial infections and profound hyporesponsiveness to LPS and IL-1, we previously identified two mutations in IL-1R-associated kinase-4 (IRAK-4) that encoded proteins with truncated kinase domains. Overexpression of either of these mutant IRAK-4 variants in HEK293 cells failed to activate endogenous IRAK-1 and suppressed IL-1-induced IRAK-1 kinase activity, in contrast to wild-type (WT) IRAK-4. In this study, interactions of WT and mutant IRAK-4 species with IL-1R, IRAK-1, and MyD88 in HEK293 transfectants were compared. IL-1 induced a strong interaction among the IL-1R, activated IRAK-1, MyD88, and WT, but not mutant, IRAK-4. Truncated IRAK-4 proteins constitutively interacted more strongly with MyD88 and blunted IL-1-induced recruitment of IRAK-1 and MyD88 to the IL-1R. Thus, decreased IL-1-induced association of IRAK-1 and MyD88 with the IL-1RI may result from sequestration of cytoplasmic MyD88 by IRAK-4 mutant proteins. Therefore, mimetics of these truncated IRAK-4 proteins may represent a novel approach to mitigating hyperinflammatory states.

Adaptor Proteins, Signal Transducing↗