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PubMed1993

Variant von Willebrand disease with defective binding to factor VIII: the first case from Japan.

This is the first case of variant von Willebrand disease (vWD) with defective binding of von Willebrand factor (vWF) to factor VIII (F.VIII) to be diagnosed in Japan. An 8-year-old Japanese girl, who had had recurrent episodes of subcutaneous hematomas, showed a prolonged A-PTT, low F.VIII (F.VIII:C 4 U/dl, FVIII:Ag 4 U/dl), and normal level of vWF (RCof 80 U/dl, vWF:Ag 60 U/dl). The patient's vWF-multimeric structure on SDS agarose gel electrophoresis was similar to that in normal subjects. A F.VIII binding assay was performed, as described by Nishino et al. (1989). F.VIII binding (y) of vWF was expressed as a function of the amount of immobilized vWF (x) on the wells of a polystyrene plate. Regression lines from normal subjects and the patient had a high correlation coefficient. F.VIII binding capacity was estimated by the slope of the regression lines. The slope for normal subjects showed y = 0.002 + 0.653x, while, in contrast, the slope for the patient showed y = 0.005 + 0.009x, indicating that the capacity of vWF from the patient to bind F.VIII was markedly decreased. Exons 18-20 of the vWF gene, covering the first 132 amino acids of mature vWF subunit from the patient, were sequenced, using the PCR amplification method. A point mutation C-->T at codon 816 in exon 19, predicting a substitution of Trp for Arg(53), was characterized; this was inherited by the patient from her mother.

Base Sequence↗
PubMed1997

[Deep multilayer plastic repair in inguinal hernias].

The article presents the authors' variant of a surgical technique of hernioplasty, the so-called deep multi-layer hernioplasty. This type of hernioplasty is thought by the authors to give best results in patients with recurrent and so-called difficult inguinal hernias when there are true anatomic defects of the musculo-aponeurotic and fascial structures. Long-term results of 35 operations were followed-up. Neither recurrences nor complications were noted.

Adult↗
PubMed2005

Update on primary central nervous system lymphoma.

PURPOSE OF REVIEW: Primary central nervous system lymphoma is a rare form of extranodal non-Hodgkin's lymphoma that is confined to the central nervous system and eye. Numerous studies examining this disorder have been published in the past 2 years. This review will discuss recent advances in the understanding of the pathology, radiographic appearance, and treatment of this disorder. RECENT FINDINGS: Novel treatment regimens continue to be studied for newly diagnosed and recurrent primary central nervous system lymphoma. As overall survival improves, the burden of late neurotoxicity has become more apparent. Neuropsychological testing of patients treated with chemoradiation shows significant cognitive deficits that can be attributed to whole brain irradiation. Standardization of phase II clinical trials across individual institutions remains an important goal within the oncology community. The International Primary Central Nervous System Lymphoma Collaborative Group (IPCG) has proposed guidelines for the baseline evaluation and response criteria for clinical trials of the disorder. In addition, series of patients with uncommon histological variants of primary central nervous system lymphoma have been published. SUMMARY: In 2005, the optimal treatment for primary central nervous system lymphoma remains undefined. Treatment of newly diagnosed disease should include methotrexate-based chemotherapy but the role of irradiation and intrathecal chemotherapy remain unclear. Salvage therapy for progressive or recurrent primary central nervous system lymphoma is an area of active interest but no standard recommendations exist at the present time. Future studies on the biology of recurrent primary central nervous system lymphoma should help to clarify treatment options for these patients.

Central Nervous System Neoplasms↗
PubMed1987

Prinzmetal's angina during 5-fluorouracil chemotherapy.

Variant angina developed during intravenous 5-fluorouracil therapy in a patient without prior history of angina pectoris. Ambulatory electrocardiography demonstrated S-T segment elevation and ventricular ectopy during pain, whereas no symptoms or S-T segment changes occurred during placebo therapy. Prophylaxis with both nifedipine and diltiazem was successful in preventing recurrence. It is believed that 5-fluorouracil induced coronary vasospasm and that this was prevented by prophylactic calcium antagonist therapy. Drug-induced coronary artery spasm may be the cause of 5-fluorouracil-associated chest pain.

Angina Pectoris, Variant↗
PubMed2005

[Dermal chondroid melanoma].

This case describes the history of disease of a 53-year old man, who has been treated for a putative recurrent nailbed granuloma of the right big toe since 1996. In 2000 an enlarged inguinal lymph node was excised. The light microscopic examination showed a metastasis of a malignant melanoma. In 2003 we received a tumor of the right big toe for histopathological examination. The histological and immunohistochemical results proved a dermal chondroid melanoma. This extremely rare variant of malignant melanoma occurs particularly in subungual location and is possibly related to a previous trauma. We discuss the spectrum of differential diagnoses and the importance of immunohistochemistry.

Diagnosis, Differential↗
PubMed1999

Paraduodenal hernia presenting as unexplained recurrent abdominal pain.

We present a case of a 29-yr-old female nurse who presented with an 8-h history of abdominal pain. She had had similar episodes (twice/yr) over the last 5 yr, and the pain had usually resolved spontaneously. Prior investigations including laboratory studies, plain films of the abdomen, an abdominal and pelvic ultrasound, and a CT scan yielded no diagnosis. Her pain was previously considered to be either psychosomatic or a variant of irritable bowel syndrome. On this admission, an evaluation and subsequent enteroclysis revealed a left paraduodenal hernia. The importance of considering paraduodenal hernias in the differential diagnosis of unexplained intermittent abdominal pain is discussed here.

Abdominal Pain↗
PubMedDate not supplied

[Reflex myoclonic epilepsy in infancy: a new reflex epilepsy syndrome or a variant of benign myoclonic epilepsy in infancy].

CASE REPORTS: We report a clinical and EEG study of 8 children with reflex myoclonic epilepsy of infancy to further confirm the existence of this syndrome first described by Ricci et al in 1995. RESULTS: Between February 1990 to July 2002, we identified 64 epileptic patients with myoclonic seizures with an onset in the first six years of life. Eight (12.5%) of these patients had myoclonic seizure stimuli sensible. The seizures were characterized by generalized, myoclonic jerks triggered by tactile stimuli in six patients and acoustic stimuli in two, in one of them myoclonic jerks were triggered by both types of stimuli. The seizures appeared between 5 and 20 months of age. Two of the 8 patients had spontaneous myoclonic attacks during sleep. Interictal EEG was normal during wakefulness and occasional discharges were evident during sleep. In contrast, the ictal EEG during both wakefulness and sleep showed generalized spike wave and polyspike slow wave paroxysms. Neurologic examination, neuroimaging and neurometabolic studies were normal. Myoclonic jerks disappeared in 6 patients after valproic acid administration and in two after clobazan administration. Antiepileptic treatment was discontinued in 6 patients and no seizure recurrence was observed during a median follow up of 6 years. CONCLUSION: Our patients presented electro clinical criteria compatible with the syndrome of reflex myoclonic epilepsy of infancy. This syndrome could be considered to be a new reflex epileptic syndrome or a variant of benign myoclonic epilepsy in infancy.

Anticonvulsants↗
PubMed2004

Fine-needle aspiration in liposarcoma: cytohistologic correlative study including well-differentiated, myxoid, and pleomorphic variants.

We have reviewed cytopathology and the corresponding histopathology material of 86 liposarcomas (55 patients) seen at Institut Curie. The liposarcomas (LS) were well differentiated in 14 cases (9 pure, 2 dedifferentiated, 3 sclerosing), 64 myxoid, and 8 pleomorphic. Twenty-four tumors were primary, 34 recurrent, and 28 secondary. Smears in LS were composed in different proportions of round, spindle cells, lipoblasts, and myxoid and vascular arborizing structures. Pure well-differentiated LS were frequently composed of lipoblasts, and round or spindle cells were occasionally seen. Dedifferentiated and sclerosing liposarcomas were composed of spindle or round cells, but lipoblasts were also occasionally present. Myxoid or vascular arborizing structures were absent. Myxoid LS (including round and spindle cell LS) frequently showed a myxoid background and less frequently vascular arborizing structures. Tumor cells were round or spindle. Lipoblasts were also seen. Pleomorphic LS were composed of an admixture of all cellular and stromal elements. Well-differentiated LS should be distinguished from hibernoma and spindle cell lipoma, and myxoid LS from myxoma, myxoid chondrosarcoma, chordoma, myxoid leiomyosarcoma, and myxoid malignant fibrous histiocytoma. The demonstration of the specific translocation t(12;16)(q13;p11) of myxoid LS is very helpful to establish the diagnosis. Pleomorphic LS should be differentiated from other high-grade sarcomas, whenever possible.

Adolescent↗
PubMed1987

[Clinico-pathogenetic variants of protracted forms of acute myocardial infarct].

Methods of clinico-instrumental investigation and biochemical monitoring (CPK and its membranous fraction) were employed for examination of 432 patients with acute myocardial infarction (AMI). Among them there were patients with an uncomplicated course of disease (19.4%), recurrences (13.7%) and AMI spreading (9%). Lung edema, a cardiogenic shock, ventricular fibrillation and complicated cardiac rhythm disorders were not detected on the 1st day of disease. Clinico-anamnestic data provided no opportunity for defining factors promoting AMI recurrences whereas AMI spreading frequently developed in patients with repeated AMI, suffering from essential hypertension, obesity and heart failure. Higher diastolic pressure in the pulmonary artery, an increase in the cardiac volume, a decrease in the ejection fraction and left ventricular stroke work--changes which were most pronounced in AMI spreading, were noted in patients with AMI lingering forms. Signs of disseminated intravascular blood coagulation were noted in the venous and arterial blood of patients with lingering AMI forms. A high blood enzyme level was shown to be accompanied by a low level of antibodies to LDH and CPK.

Adult↗
PubMed1995

Nodular type of lymphocyte predominant Hodgkin's disease. A clinical study of 50 cases.

BACKGROUND: Lymphocyte predominant Hodgkin's disease (LP-HD), particularly that with a nodular pattern has been suggested to constitute a distinct disorder within the spectrum of Hodgkin's disease, this issue being based on clinical, morphological and immunological observations. Furthermore, the nodular LP-HD (N-LP-HD) has been considered to differ from the diffuse subtype (D-LP-HD), although the data are conflicting. The question addressed in this study was whether the clinical course of N-LP-HD differs from that of the D-LP-HD as well as the other subtypes of Hodgkin's disease. PATIENTS AND METHODS: 90 cases diagnosed as LP-HD at St. Bartholomew's Hospital (SBH) were reviewed. The histopathological classification was based on the original Lukes and Butler criteria for classical N-LP-HD. Clinical data were retrieved from case notes and a computer database. Stage was determined by the Ann Arbor criteria. Survival and remission duration analyses were performed for the group of patients with N-LP-HD and compared with an histological control group of patients with the other subtypes of Hodgkin's disease and the cases of LP-HD that have been reclassified. RESULTS: 1. 50/90 cases (56%) originally diagnosed as N-LP-HD qualified as N-LP-HD. No case with the diffuse subtype, could be identified. Twenty-three percent of the cases were reclassified as Mixed Cellularity and 11% as Nodular Sclerosis HD, whilst 10% as non-Hodgkin's lymphomas. 2. The majority of cases (78%) presented with early stage (I + II). Bone marrow and liver involvement were rare. 3. 92% of cases achieved complete remission. Recurrence developed in only 6/46 patients within 5-12 years. A second complete remission was achieved in 5/6 (83%) cases. Further recurrences have not yet occurred. 4. The overall survival of the 50 cases with N-LP-HD was 92% at 4 years and did not differ significantly from the 40 cases that have been reclassified. Remission duration however, was significantly better for the group of N-LP-HD being 81% at 12 years. 5. Second malignancies were common and developed in 6/50 cases (12%) with N-LP-HD within 10-15 years. These included: ALL (1 case), high grade B-NHL (2 cases), squamous cell carcinoma (1 case), glioma (1 case), lung carcinoma (1 case). 6. 12/50 patients died within a period of follow-up, up to 21 years. 1/3 of the deaths was attributed to the development of second malignancy. CONCLUSIONS: The diffuse variant of LP-HD is rare, having not been seen at St. Bartholomew's Hospital during this time period. The 50 cases with N-LP-HD showed a favourable course with presentation at an early stage, good response to treatment, late recurrences and remission duration other than the other subtypes of HD. The latter could be attributable to the early stage at presentation of N-LP-HD, since the remission duration on a matching on stage analysis was superficially better in favour of N-LP-HD (p = 0.06). The indolent course of the disease in combination with the risk of second malignancy cases raises the question whether histology should be taken into consideration in the development of new protocols for HD.

Adolescent↗
PubMed1999

Selection of metastatic tumour phenotypes by host immune systems.

Metastasis and the processes underlying this phenomenon make epithelial cancers so malignant. Local control of cancers by surgery is sometimes possible but locoregional and distant recurrence commonly lead to the failure of treatment with ensuing morbidity and mortality. Tumour cells express a range of new antigens during growth and there are opportunities for the host immune system to interact with these antigens. This immune interaction eliminates the tumour or allows selection of phenotypic variants. Cell phenotypes selected by an incomplete immune response resemble the cell type commonly associated with metastases. Thus we propose that the host immune system may be responsible for selection of this phenotype and progression of the disease.

Animals↗
PubMed1997

Dedifferentiated myxoid liposarcoma: a clinicopathological study suggesting a closer relationship between myxoid and well-differentiated liposarcoma.

Myxoid/round cell liposarcoma is arguably the commonest type of liposarcoma occurring in the extremities and may show gradual progression from low-grade, pure myxoid liposarcoma to high-grade round cell liposarcoma. Rarely myxoid/round cell liposarcoma is associated with areas of well-differentiated or pleomorphic liposarcoma (mixed liposarcoma). We describe the clinicopathological features of three unusual myxoid/round cell liposarcomas which showed morphological features of de novo dedifferentiation. All patients were male and were aged 66, 70 and 76 years, respectively. One lesion each arose in the retroperitoneum, inguinal region and peritoneal cavity. Histologically, in one case the myxoid/round cell component was juxtaposed to a high-grade non-lipogenic component resembling non-pleomorphic storiform 'malignant fibrous histiocytoma' ('MFH'), one case showed a combination of myxoid liposarcoma and a high-grade myxofibrosarcoma-like component (so-called myxoid 'MFH'), and in the third case, a well-differentiated myxoid liposarcoma with a discontinuous micronodular pattern of dedifferentiation was seen. Follow-up information of 30, 28 and 26 months revealed two recurrences each in two patients. These patients died of postoperative pulmonary embolism and abdominal haemorrhage, respectively; systemic metastases were not noted. These cases demonstrate that myxoid/round cell liposarcoma can show, albeit very rarely, histological features of dedifferentiation. Cases like these, combined with the occurrence of mixed-type liposarcoma (well-differentiated/myxoid liposarcoma) and the vicinity of chromosomal regions involved by specific karyotypic aberrations in these tumours, suggest that myxoid/round cell liposarcoma and well-differentiated liposarcoma (including its dedifferentiated variant) are more closely related in biological terms than is generally believed.

Abdominal Neoplasms↗
PubMed1994

Spindle cell liposarcoma, a hitherto unrecognized variant of liposarcoma. Analysis of six cases.

A series of six cases of a previously unrecognized variant of liposarcoma characterized by a prominent spindle cell component is reported herein. Clinically, all of the tumors arose in adults and developed around the shoulder girdle or upper limbs; all but one arose in subcutaneous tissue. Three patients developed multiple local recurrences over a period of 4-20 years. Recurrences in one case were purely lipoma-like. Following dedifferentiation in a recurrence, one patient developed distant metastases and eventually died, 46 months after the primary excision. Grossly, these lesions are characterized by multinodularity, and microscopically they show a relatively bland spindle cell proliferation arranged in fascicles and whorls and set in a variably myxoid stroma. The spindle cell areas are accompanied by an adipocytic component, which exhibits the morphologic features required for inclusion in the well-differentiated liposarcoma-atypical lipoma group, including definite lipoblasts. Main differential diagnoses include benign lesions such as spindle cell lipoma and diffuse neurofibroma, as well as dermatofibrosarcoma protuberans and other malignancies such as sclerosing liposarcoma, low-grade myxofibrosarcoma, low-grade malignant peripheral nerve sheath tumor, and low-grade fibromyxoid sarcoma. In view of their distinctive histologic appearance, and because aggressive clinical behavior was observed despite their superficial location, we propose that these lesions be regarded as spindle cell variants of well-differentiated liposarcoma.

Adult↗
PubMed2026

Case Report: Early infantile drug-resistant epilepsy and gastrointestinal dysmotility associated with a de novo GNAO1 variant and a 16p13.11 microdeletion.

BACKGROUND: The GNAO1 gene is located on the long arm of chromosome 16 (16q13) and is associated with Developmental and Epileptic Encephalopathy 17. It encodes a protein involved in regulating various neurotransmitters and neuronal growth and development. The 16p13.11 microdeletion is a genomic deletion in the p13.11 region of the short arm of chromosome 16, previously reported to predispose individuals to neurodevelopmental disorders. These two regions do not overlap on the chromosome, and the 16p13.11 microdeletion does not involve the GNAO1 gene locus. CASE PRESENTATION: We reports a 1-month-old infant presenting with concurrent GNAO1 (p. G203R) gene variation and a 16p13.11 microdeletion. The patient initially presented with recurrent abdominal distension in the neonatal period, which gradually progressed to include focal seizures and intractable epileptic spasms. Interictal EEG showed multifocal discharges and burst-suppression patterns. Brain MRI revealed no abnormalities. A full gastrointestinal series suggested intestinal obstruction and gastro-esophageal reflux. Improved whole-exome sequencing identified: 1) A single nucleotide variantion: GNAO1, NM_020988.3:exon6: c.607G > A (p.Gly203Arg). 2) A copy number variation: A pathogenic 1.453 Mb deletion in the 16p13.11 region. CONCLUSIONS: We describe the developmental trajectory of an infant with overlapping features of gastrointestinal symptoms and drug-resistant epilepsy, carrying a GNAO1 variant and a 16p13.11 microdeletion. This case provides insights into the contribution of both single nucleotide variant and copy number variant to the phenotype.

16p13.11 microdeletion↗
PubMed2004

Association of CYP1A1 gene polymorphism with recurrent pregnancy loss in the South Indian population.

BACKGROUND: We investigated the relationship between idiopathic recurrent pregnancy loss (RPL) and genetic polymorphisms in phase I and phase II detoxification genes which include CYP1A1, CYP2D6, GSTM1, GSTP1 and GSTT1. METHOD: A case-control study comprised 160 females with RPL and 63 healthy controls with a successful reproductive history. RESULTS: The CYP1A1 variant allele was present at frequencies of 0.61 and 0.44 in cases and controls, respectively (odds ratio=1.93; P=0.023, 95% confidence interval 1.10-3.38). The CYP2D6 variant allele was present at a frequency of 0.17 in females with RPL, while in the control population the frequency was 0.16. The GSTM1 and GSTT1 null genotypes were present at frequencies of 0.39 and 0.26 in RPL cases, whereas in controls the frequencies were 0.37 and 0.17, respectively. The mutant GSTP1 frequencies in case and control women were 0.38 and 0.40, respectively. We report a significant association of the CYP1A1*2A allele with RPL which is confirmed by logistic regression analysis. No association was observed for the other polymorphisms or in their combinations studied. CONCLUSIONS: The present study suggests the occurrence of the CYP1A1*2A allele as a probable risk factor in idiopathic recurrent miscarriages.

Abortion, Habitual↗
PubMedDate not supplied

[Causes of varicocele recurrence after Ivanissevich's operation].

The relapse of varicocele occurring after the most radical operative intervention performed with the use of Ivanissevich's technique and its possible cause were studied. For this 22 patients developing a relapse of left-sided varicocele were examined and operated on. Vascular investigation was found to be of great aid in identifying the types and variants of testicular vein structure and the case of operation failure. Intact medial and sometimes lateral trunks of crumble-structure testicular vein or erroneous cut of vein in fat tissue of sigmoid colon performed instead of testicular vein cutting was stated as the main cause of varicocele relapses and disease progression. Thus it is stated that the cutting of all the trunks of testicular vein is necessary for relapse prevention and the method of treatment by Ivanissevich be regarded as pathogenetically substantiated one.

Adolescent↗
PubMed1985

Behaviour of meiotic univalents during metaphase I: natural variants and computer simulations.

When univalent chromosomes are present at first meiotic division, their behaviour is highly variable. In some cases, both sister kinetochores orient towards the same pole (syntely) while in others, the two kinetochores orient to opposite poles (amphitely). The former may be accompanied by recurrent pole-to-pole oscillation, although, as the present report suggests, this is not the only variation which can be found in conjunction with syntelic orientation. This study attempts to explain this diversity of orientation phenomena. A computer model was constructed which can generate all of the common univalent behaviours. Simulation experiments suggest that chromosome length is critical in determining whether amphitelic or syntelic orientation will predominate. Syntely should be common among large univalents, but oscillations will be rare or absent if the chromosome has any capacity for microtubule attachment at its non-centromeric end. It appears that gross attributes of the chromosome may influence the orientation of univalents during the first meiotic division, with consequent effects on the probability of transmission to the next generation.

Animals↗