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At least 1,027 records · Page 57Linked to original sources
PubMed2004

Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.

The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immune deficiency disorder characterized by thrombocytopenia, small platelet size, eczema, recurrent infections, and increased risk of autoimmune disorders and malignancies. X-linked thrombocytopenia (XLT) is an allelic variant of WAS which presents with a milder phenotype, generally limited to thrombocytopenia. WAS and XLT are caused by mutations of the Wiskott-Aldrich syndrome protein (WASP) gene which encodes a 502-amino acid protein, named WASP. WASP is thought to play a role in actin cytoskeleton organization and cell signaling. Here, we report the identification of 141 unique mutations, 71 not previously reported, from 227 WAS/XLT families with a total of 262 affected members. When possible we studied the effects of these mutations on transcription, RNA splicing, and protein expression. By analyzing a large number of patients with WAS/XLT at the molecular level we identified 5 mutational hotspots in the WASP gene and have been able to establish a strong association between genotype and phenotype.

Child↗
PubMedDate not supplied

A well-differentiated liposarcoma co-existent with leiomyoma.

BACKGROUND: The coexistence of a well-differentiated liposarcoma (atypical lipomatous tumor) and benign smooth muscle component in a single soft tissue neoplasm is extremely rare. CASE REPORT: Histologic and immunohistochemical characteristics of tumor, which represented the recurrence of a retroperitoneal atypical lipoma in a 50-year-old female patient are presented in this paper. The tumor represented the recurrence of a retroperitoneal atypical lipoma. Lipomatous component consisted of a mixture of lipoma-like and sclerosing variant of well-differentiated liposarcoma. Characteristically, the heterologous smooth muscle differentiation was manifested as a macroscopically visible nodular growth in the form of a leiomyoma within the adipocytic component. It consisted of intersecting fascicles of spindle cells, which lacked mitoses and significant atypia, and were immunopositive for smooth muscle markers. CONCLUSION: This case of well-differentiated liposarcoma with benign smooth muscle is the first reported tumor of retroperitoneal localization. It is also the first one to exhibit the heterologous smooth muscle component as a distinct leiomyoma.

Female↗
PubMed2004

Macrofollicular variant of papillary carcinoma of the thyroid: a histologic, cytologic, and immunohistochemical study of 3 cases and review of the literature.

CONTEXT: The macrofollicular variant of papillary carcinoma of the thyroid is a rare entity described by J. Albores-Saavedra and colleagues in 1991. It is characterized histologically by a predominance of macrofollicles and clinically by a low incidence of metastasis. This entity may represent a source of diagnostic error, since it can be easily misinterpreted as a macrofollicular adenoma or nodular goiter. DESIGN: In this study, we describe 3 cases of papillary carcinoma of the thyroid with a macrofollicular growth pattern and review the literature. RESULTS: The fine-needle aspiration biopsies in 2 cases showed large cells with optically clear nuclei and nuclear grooves, suggestive of papillary carcinoma of the thyroid. In one case, the cytology showed no signs of malignancy. In all cases, the tumors showed a combination of the conventional follicular variant of papillary carcinoma of the thyroid and macrofollicles (diameter, >250 microm) occupying more than 50% of the cross-sectional area. Cytologic features were large, cuboidal cells with optically clear, ground-glass nuclei with smooth outlines, a fine chromatin pattern, nuclear grooves, and pseudoinclusions. The colloid was dense and more eosinophilic than in adjacent normal follicles. In 2 cases, there was capsular or blood vessel infiltration, and one tumor had metastasized to a cervical lymph node. One tumor recurred 1 year later as an anaplastic carcinoma. Immunohistochemical staining showed a positivity of the tumor cells for cytokeratins 7, 17, and 19, thyroid transcription factor-1, and galectin-3 and a negativity for cytokeratin 20 and p53. CONCLUSIONS: Although it has been suggested that this tumor is a highly differentiated variant with a favorable prognosis, our study shows that its biologic behavior is not conclusive because metastases and recurrences with dedifferentiation may occur.

Adult↗
PubMed2001

Folic acid: miscarriages, anomalies, thromboses, cancers.

Folic acid is an essential micronutrient that merits special attention. In spite of plentiful sources in a balanced diet, recent data indicate that folic acid intake of many persons has long been inadequate. To some degree, this is due to destruction of folic acid by storage and processing of foodstuffs and to dietary practices that vary from recommendations. However, the common hereditary thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) imposes an increased folic acid requirement which, if not met, may result in recurrent early pregnancy loss, anomalous progeny, thrombotic disorders, and cancers. There are recent reports that folic acid metabolism is also altered by other hereditary variations of MTHFR and other enzymes involved in folic acid metabolism. Optimal management requires dietary guidance and, for many patients, folate supplements. Caution is required because mandated folate fortification of grain products may produce levels that are inadequate for some patients and excessive for others. Laboratory tests for red cell folate and serum homocysteine are valuable adjuncts.

Adolescent↗
PubMedDate not supplied

Cushing's syndrome induced by bronchopulmonary carcinoid tumours: a review of 98 cases and our experience of two cases.

Bronchopulmonary carcinoids are one of the most common cause of ectopic secretion of corticotropin (ACTH) and account for approximately 1% of all the patients in whom Cushing's syndrome develops. We reviewed 98 cases described in the World Literature and we report on two new cases. A 60-year old woman affected by Cushing's syndrome underwent to surgical wedge resection of a peripheral pulmonary nodule and a 30-year old woman with similar clinical features underwent to middle lobectomy for a small hilar neoplasm. Histopathologic examination of the tumours defined them as typical bronchopulmonary carcinoids. The patients are asymptomatic and with no sign of recurrence 72 and 30 months after surgery. According to our review we found no clear evidence that bronchial carcinoids associated with Cushing's syndrome should be considered a more aggressive variant or subtype of the typical carcinoid. If Cushing's syndrome does not disappear after surgery, the presence of residual disease (often a nodal involvement) should be investigated. A long-term relapse of the syndrome requires a careful search for local or distant neoplastic recurrence.

Adult↗
PubMedDate not supplied

[Morphological reasons of development of recurrent cystitis in children].

Chronic cystitis was diagnosed in 36% of children with neuromuscular ureteral dysplasia, in 69% of those with vesicoureteral reflux, in 42% of girls with urolithiasis. Recurrent inflammation was registered in 96, 11% of patients with fibrinous cystitis and catarrhal cystitis, respectively, and in 62% of girls with bullous cystitis. Histological examination of 130 biopsies of bladder mucosa from girls with frequent recurrences of chronic cystitis provided a clear morphological picture of each endoscopic cystitis form. In bullous cystitis there are 2 congenital variants of mucosal structure: overdevelopment of lymphoid tissue as massive lymphoid follicules and lymphangioectatic form. Catarrhal cystitis is characterized by vascular angiomatosis. All the patients with fibrinous cystitis had squamous cell epithelial metaplasia. Morphological findings evidence that fibrinous cystitis is the most severe and unfavorable form of cystitis, bullous cystitis is less severe while catarrhal cystitis is favorable.

Adolescent↗
PubMed1991

Molecular basis for antithrombin III type I deficiency: three novel mutations located in exon IV.

Antithrombin III (AT III) type I deficiencies are characterized by a 50% decrease of both immunoreactive and functional protein and carry a high risk of thrombotic complication. We have studied the molecular basis for such deficiencies by asymmetric polymerase chain reaction amplification and direct sequencing of the seven exons and of the intron-exon junction of the AT III gene. Three different mutations were observed in the exon IV: a 4-bp deletion, a 2-bp deletion, and a nucleotide insertion. Each of these mutations results in a frameshift introducing premature stop codons at positions 313, 309, and 232, respectively. These results were confirmed by dot-blot analysis with allele-specific oligonucleotide probes. Furthermore, no mutation was observed in the other six exons. The comparison of the type of mutations observed by our group in six cases of type I deficiencies and in 16 cases of type II heparin binding site variants deficiencies suggests that the former are caused by heterogeneous molecular abnormalities while the latter are caused by recurrent missense mutations.

Adult↗
PubMed1984

Rebound of vasospastic angina after cessation of long-term treatment with nifedipine.

The beneficial effect of calcium antagonists in the treatment of vasospastic angina is now well recognized. Although withdrawal symptoms have been reported following abrupt cessation of therapy with some cardiovascular drugs, there is no detailed report on similar complications of the cessation of therapy with calcium antagonists. In a 4-month period eight patients with well documented and well controlled vasospastic angina experienced a marked increase in the frequency and duration of anginal episodes at rest following the involuntary cessation of treatment with nifedipine, 10 to 20 mg four times a day. The increase began within 2 to 5 days after the cessation of treatment. Substitute therapy with isosorbide dinitrate, 30 mg, and verapamil, 80 to 120 mg, each four times a day, was effective in all cases. Although the mechanism responsible for this rebound phenomenon is not known, awareness of its existence is essential considering the widespread use of calcium antagonists.

Adult↗
PubMed1997

Incidence of TEL/AML1 fusion gene analyzed consecutively in children with acute lymphoblastic leukemia in relapse.

The translocation t(12; 21)(p13; q22) is difficult to detect by classic cytogenetics. However, using fluorescence in situ hybridization (FISH) and by screening for the TEL/AML1 rearrangement by the polymerase chain reaction (PCR), it has been demonstrated to be the most frequent known structural chromosomal abnormality in childhood acute lymphoblastic leukemia (ALL). It is closely correlated with a B-cell precursor (BCP) phenotype and is considered a favorable prognostic factor. However, little is known about the incidence of the translocation in relapsed patients and the duration of complete remission (CR) in children expressing the TEL/AML1 fusion gene. We therefore examined 49 bone marrow samples from children with ALL at first or second relapse that were consecutively mailed to our laboratory to test for the presence of t(12; 21) using reverse transcriptase (RT)-PCR. The TEL/AML1 rearrangement could be identified in nine of 44 (20%) of the patients, a result similar to the reported incidence at diagnosis. Most of the TEL/AML1-positive children showed no adverse clinical features at diagnosis (eg, white blood cell [WBC] count <100 x 10(9)/L or age <10 years), and regarding these data, there were no differences versus children who were negative for the fusion gene. However, the period of remission was about 1 year longer in children expressing TEL/AML1 (P = .046), and the majority of relapses in this group appeared late (<2 years after diagnosis). Our findings therefore reinforce the urgent need for further prospective studies with a long follow-up period to determine the true prognostic significance of t(12; 21) and to avoid premature changes of treatment strategies.

Adolescent↗
PubMedDate not supplied

[Our experience in the percutaneous treatment of varicocele].

For its high incidence among young men and its affecting male fertility, varicocele requires an accurate screening, as well as an early and definitive treatment. The Authors report their experience in the treatment of varicocele with sclerotherapy: 24 patients underwent sclerotherapy of the left internal spermatic vein with a success rate of 91%. Complications never required hospitalization or surgery. Percutaneous therapy represents thus the treatment of choice in case of varicocele: compared with surgery, it offers similar clinical results and a lower recurrence rate, and it can be performed on an outpatient basis. Surgery should be performed only when anatomic variants make percutaneous treatment not feasible.

Adolescent↗
PubMed1992

Fine-needle aspiration cytology of an endometrioid-like variant of yolk sac tumor.

A 36-year-old male with a history of immature teratoma and embryonal carcinoma of the testis was admitted to the hospital for abdominal pain and fever. A CT scan revealed a large right abdominal mass. The patient's serum alpha-fetoprotein (AFP) was 46.8 ng/ml (reference < 25 ng/ml). Fine-needle aspiration (FNA) of the mass revealed malignant glandular cells. Chemotherapy was instituted, followed by resection of the large abdominal mass. The tumor was grossly encapsulated, consisting of large areas of necrotic, hemorrhagic tissue surrounded by smaller, multiloculated cysts. Microscopically, the tumor had a villoglandular pattern and variably stratified tall columnar cells. A prominent feature of the columnar cells was supranuclear and subnuclear vacuolization. Intracytoplasmic PAS-positive, diastase-resistant hyaline globules were occasionally present. AFP by immunoperoxidase was prominent within the tumor. This recurrence of the previously diagnosed testicular teratoma with embryonal carcinoma represents a yolk sac tumor with components strongly resembling endometrioid carcinoma, a variant only recently described in eight cases of ovarian origin (Clement et al.: Am J Surg Pathol 1987; 11(10):767-778). We believe this is the first reported case of an endometrioid-like variant of testicular yolk sac tumor and also the first report of the FNA cytology findings in this variant.

Adenocarcinoma↗
PubMedDate not supplied

Liver graft infection by HBV S-gene mutants in transplant patients receiving long-term HBIg prophylaxis.

BACKGROUND/AIMS: HBV reinfection of transplant livers occurs frequently even in the presence of high doses of anti-HBs immunoglobulins. We analyzed, retrospectively, whether and which type of S-gene variants were selected by long-term polyclonal anti-HBs (HBIg) treatment leading to reinfection of patients transplanted because of chronic HBs-positive end-stage liver disease. METHODOLOGY: The preS2/S gene of the viral genomes obtained from sera before transplantation and during HBV reinfection was amplified by PCR and directly sequenced. RESULTS: According to transaminase and HBV DNA hybridization analysis, 3/18 (17%) liver transplant patients had HBV and hepatitis recurrence during anti-HBs therapy. A HBV S-gene mutant containing a G to A nucleotide mutation at position 587, converting Glycine to Arginine (G145A), was identified in all three patients as the dominant population at reinfection but not pre-transplantation. Contrary to the S-gene, no consistent nucleotide changes were found in the pre-S2 region of HBV genomes when comparing the reinfection and pre-transplantation samples. CONCLUSIONS: These data demonstrate that long-term polyclonal anti-HBs immunoprophylaxis selected the most commonly described G145R S-gene escape HBV variant which became the dominant virus population and was responsible for graft infection. Therefore, immunoglobulins with high affinity for the G145R HBs variant should be included in HBIg to prevent recurrent HBV infection in transplant patients.

Adult↗
PubMed1990

Multiple cerebral and pulmonary arteriovenous malformations in association with brain and subcutaneous abscesses: a possible variant of hereditary hemorrhagic telangiectasia--case report.

The authors present a case in which multiple cerebral and pulmonary arteriovenous malformations (AVMs), a brain abscess, and a recurrent subcutaneous abscess were found concurrently in a 52-year-old male. He was admitted to our hospital for evaluation of a subcutaneous abscess in the right nuchal area and a right occipital AVM that had been detected at another hospital. Of his eight siblings, three had died of cerebrovascular disease (one in childhood and two as young adults), one had died of unknown causes in childhood, one had been hemiplegic since infancy, one had recently undergone removal of a pulmonary AVM, one was killed in World War II at the age of 24 years, and the remaining sibling was healthy. He had had surgery for a right occipital brain abscess three years prior to this admission. A general examination revealed no abnormalities other than the painful right nuchal mass. Neurological evaluation disclosed left homonymous hemianopsia, which was probably a result of his previous surgery for the right occipital brain abscess. Cerebral angiography showed AVMs in the right parietal (2 x 2 cm), right occipital (1.5 x 1.5 cm), and right cerebellar areas (1 x 1 cm). Digital subtraction angiography of the lung revealed multiple bilateral AVMs. The cerebral and pulmonary AVMs were removed in a two-stage operation. Although this case did not correspond precisely to the triad of hereditary hemorrhagic telangiectasia (HHT), the authors consider it to be related to HHT, since that syndrome is often complicated by multiple cerebral and pulmonary AVMs.

Abscess↗
PubMed1982

[Treatment of a severe coronary artery spasm, refractory to complete denervation of the heart (autotransplantation)].

The case reported is that of a 49 year old man with very severe Prinzmetal angina due to spasm of the left circumflex artery. Despite intensive medical treatment he continued to suffer frequent attacks with atrioventricular block. As plexectomy was not possible in this case, complete cardiac denervation was performed. After surgery, he had no further attacks and continuous ECG monitoring showed no ischemic phenomena. Nevertheless, a stress test was still able to induce spasm of the same artery which was painless but associated with ECG changes. Eighteen months postoperatively, resting angina recurred with positive stress tests giving painful attacks. Four hypotheses are discussed: 1) the local factor was very important, with a zone of hyperactivity on the left circumflex artery, 2) one of the mechanisms of coronary artery spasm could be the nervous stimulation of this zone, 3) this zone was insensitive to nervous stimulation after autotransplantation but remained sensitive to methylergometrine, 4) the recurrence of resting angina and painful symptoms on stress testing suggests the possibility of reinnervation of the heart, as has been shown after cardiac transplantation, the autonomic nervous system does not play the role generally attributed to it in the genesis of spasm.

Aged↗
PubMed2006

A model to infer the pathogenic significance of CDH1 germline missense variants.

Germline mutations of the E-cadherin gene (CDH1) are involved in the tumorigenesis of hereditary diffuse gastric cancer (HDGC). Recent studies have highlighted the lifesaving potential of total prophylactic gastrectomy for CDH1 germline mutation carriers. In this regard, CDH1 germline mutations of the missense type represent a clinical burden in genetic counseling, as their pathogenic relevance is not straightforward. In this work, we have outlined a possible multivariate approach to infer the significance of such variants. We reviewed all HDGC-associated E-cadherin germline missense mutations reported to date. The information collected included: co-segregation of the mutation within pedigrees, frequency in healthy population control, recurrence in independent families, and functional in vitro and in silico data. We used the neighbor-joining method to group mutations according to the collected information and assessed the robustness of mutation clusters with a bootstrap test. CDH1 germline missense variants were classified according to the parameters defined in the multivariate analysis. This analysis allowed the distribution of the variants into two distinct groups: neutral variants vs mutations. The model described in this study provides an important tool that can ultimately improve the genetic counseling offered to the carriers of the germline CDH1 missense variants.

Alleles↗
PubMedDate not supplied

FDG PET of the retroperitoneum: normal anatomy, variants, pathologic conditions, and strategies to avoid diagnostic pitfalls.

Evaluation of the retroperitoneum is important to assess the extent of retroperitoneal malignancies and because the retroperitoneum is a route of nodal spread for other malignancies. Positron emission tomography (PET) with 2-[fluorine-18]fluoro-2-deoxy-D-glucose (FDG) allows detection of small malignant nodes not identified or not meeting size criteria for malignancy with computed tomography (CT) and tumor recurrences in surgical beds that are otherwise difficult to assess. However, evaluation of retroperitoneal malignancies or adenopathy with FDG PET can be complicated by urinary and colonic activity or anatomic variants. Urinary artifacts are avoided with intravenous hydration, administration of furosemide, and catheterization and retrograde filling of the bladder with saline solution. Colonic artifacts are avoided by cleansing the bowel with an isosmotic solution. FDG PET is useful in assessing the retroperitoneum for adenopathy in malignancies such as testicular cancer; lymphoma; and rectal ovarian, or cervical cancer that spread along retroperitoneal lymphatics. FDG PET is especially useful for detection of malignant nodes that do not meet size criteria at CT or when lack of retroperitoneal fat makes it difficult to identify retroperitoneal nodes with CT. FDG PET has an important role in evaluation of postoperative beds, where CT has limited useful because of altered anatomy, surgical clip artifacts, and scar issue.

Artifacts↗
PubMed1975

Prinzmetal's variant form of angina pectoris. Re-evaluation of mechanisms.

Thirty-five patients with typical Prinzmetal's variant angina were studied by coronary cineangiography. There was no demonstrable stenosis of the major coronary arteries in 19 patients. Nine patients with single coronary stenosis underwent aortocoronary bypass and had recurrence of the symptoms postoperatively. Administration of nifedipine effected complete cessation of the symptoms among patients formerly treated medically. Although surgical treatment did not effect permanent relief of pain, all patients initially treated surgically experienced relief of pain when nifedipine was administered. The pathophysiology of variant angina remains obscure. Our results suggest that neurohumoral factors exert more of an effect on the myocardial cell than on the coronary vessels.

Angina Pectoris↗
PubMed1991

[Principles of surgical treatment of inguinal hernia].

The work is based on the analysis of the results of surgical treatment of inguinal hernias in 198 patients in the period from 1983 to 1988. Most of the patients were over 60 years of age, a lesser number were under 35 (11.1%). Hernias of a complicated and transitional form were found in 174 patients and mild forms only in 24 patients. The hernias were recurrent in 45 and sliding in 59 patients. Proceeding from the specific features of the surgical anatomy of the inguinal space, all patients, irrespective of their age and the form and type of the hernia, were treated by operation with plastics of the opening of the hernial sac to the back of the elements of the spermatic cord. The only exception were patients under 35 years of age with a mild form of oblique inguinal hernia, in which case variants of operations with enforcement of the anterior wall of the inguinal canal were carried out. The Schouldies and McVay methods were preferred, in recurrent and all complicated forms of inguinal hernias they were combined with operations of the Endrews and Postempsky types; the last named was mostly used in individuals over 60 years of age and in repeatedly recurring hernias. The late-term results were studied in follow-up periods of 2 to 7 years in 176 patients in the group of 198 individuals who were operated on. In 77.7% of them 3-6 years have passed since the operation. Almost all patients of mature age have resumed their occupation, there are complaints neither of pain at the site of the operation nor of changes in sexual potency. Recurrent hernias were not detected.

Abdominal Muscles↗