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PubMedDate not supplied

Neuromyelitis optica (Devic's disease) report of one case.

Neuromyelitis optica also named Devic's disease is an acute combined optic neuritis and transverse myelitis. It is thought to be a variant of multiple sclerosis, but its clinical presentation probably has only one attack without further recurrence and exacerbation. We present a 12-year-old girl who suffered from sudden onset of lower extremeties weakness, sensory loss and blurred vision after a prodromal URI symptom. CSF examination showed mild pleocytosis, elevated immunoglobulins, mild elevation of protein concentration. No oligoclonal band was detected. Serum virology showed high titer of anti-EB virus antibody. Visual evoke potential showed prolong of latency and decreased amplitude of both eyes. After prednisolone treatment, her visual accuity began to improve on the 7th hospital day and motor function improved on the 11th hospital day. Two years later, she has normal visual accuity, normal motor function and shows no evidence of disease recurrence.

Antibodies, Viral↗
PubMed1989

Medulloblastoma in adults--clinical observations and results of treatment.

Ten cases of medulloblastomas, in patients above the age of 15 years, were treated during a 11 year period. These constituted 18 percent of all medulloblastomas and 1.2 percent of all primary brain tumours in adults during the same period. The majority of patients (80%) were between 16 and 25 years of age, and 80 percent were male. Half the patients presented within three months of the onset of symptoms. The usual clinical presentation was with features of raised intracranial pressure and cerebellar involvement. A lateral location of the tumour and its desmoplastic variant were common. Three patients survived more than five years. The desmoplastic variant and a gross total resection of the tumour favourably affected the prognosis. Posterior fossa recurrence was the chief cause of therapeutic failures. All the recurrences developed within three years of the initial diagnosis, and were fatal within six months of their detection.

Adolescent↗
PubMedDate not supplied

Incidence and diagnostic significance of paraneoplastic thromboembolism disorders. A survey from a community hospital.

The incidence of paraneoplastic thromboembolic disorders (PTD) at first presentation of cancer and its diagnostic significance as a cancer marker are unknown. Fourteen thousand two hundred and eighty-seven patients were admitted to the department of medicine during the period 1978-1987. Nine amongst those patients had thromboembolic disorders (TE) as the initial clinical disturbance. In another 2 patients TE was the first sign of recurrence in apparently cured cancer. PTD patients were elderly (median age 70 years), the clinical variants of PTD included solitary venous thrombosis in 3, migratory thrombophlebitis in 4, pulmonary TE in 1, arterial occlusion in 2, and associated arterial and venous occlusion in 1 case. PTD antedated the diagnosis of neoplasia by 3-180 days (median 21 days). Analysis of the impact of TE on the initiation of search for occult malignancy (PTD-cancer relevance) and on patient survival (PTD-cancer prognosis) demonstrated high PTD-cancer relevance scores in 9 among 11 cases, but favorable PTD-cancer prognosis scores in only 3 cases. This is consistent with the significance of TE for the earlier diagnosis of a, usually, disseminated cancer. The present study demonstrated a higher than usually stated association of TE with occult cancer (4.6%). It differs from recent studies by including not only venous thrombosis, but a variety of venous and arterial TE disorders as well. By studying the population from a community hospital, we believe that these data would reflect the situation in the general population at large. In this way our study differs from those of tertiary care hospitals in that our patients were not preselected.

Adult↗
PubMed1987

[Liposarcoma of the retroperitoneal space].

Date of an examination of 60 patients with liposarcomas of the retroperitoneal space aged from 40 to 60 are presented, women comprised 62%, men 38%. Operative treatment was undertaken in 48 patients (96%), radical operation--in 82%, palliative operations--in 14%. Recurrent tumors were revealed in 33 patients (66%), metastases--in 8%. Most frequent recidivations were noted in myxoid liposarcomas. A complete removal of the recurrent tumor was made in 72% of the cases. Out of 50 patients with liposarcomas 54.2% of the patients survived 5 or more years after the operation, in the myxoid variant--72.3%, in polymorphocellular form--23.1%.

Adult↗
PubMed1995

[Solitary fibrous tumor of the pericardium].

A 60-year-old man with a large pericardial effusion was found to have a large intrapericardial mass located anteriorly to the right ventricle and firmly attached to the ascending aorta and pulmonary trunk. Histologically the mass, which was completely excised together with its large base of implant, was found to be a Solitary Fibrous Tumor. After a 46-months follow-up the patient is free from symptoms and signs of recurrence. Solitary Fibrous Tumor is considered a benign tumor and its excision curative, however aggressive variants and metastasis have been reported. Patternless architecture, fibrous collagenous stroma, exclusive vimentin positivity and the lack of ultrastructural mesothelial markers are important tools for the diagnosis. Because of the extreme rarity of intrapericardial location and lack of information on long-term behaviour of this tumor, close non-invasive follow-up is necessary.

Heart Neoplasms↗
PubMed1977

Endometrial stromatosis of the uterus.

This study details the clinicopathologic features of 9 patients with endometrial stromatosis of the uterus, including 1 with the circumscribed variant. The potential of stromatosis for local invasion, intravascular penetration, and pulmonary metastasis is documented. Recurrent lesions often develop late, are amenable to surgical therapy, and do not necessarily portend a fatal outcome. Our findings and those of others indicate that the histopathologic appearance and relatively indolent behavior of stromatosis are sufficiently characteristic to justify its separation from the more aggressive homologous endometrial stromal sarcomas.

Adolescent↗
PubMed1996

[Malignant fibrous histiocytoma of spermatic cord: a case report].

A 52-year-old man presented with a painful, gradually enlarging mass in the left inguinal region. An ultrasound examination demonstrated a lobulated, heterogenous tumor 6.0 x 4.0 x 3.0 cm in diameter, which separated from the left testis and epididymis. Radical inguinal orchiectomy with wide en bloc local resection was performed. Histologic diagnosis was a malignant fibrous histiocytoma (MFH) with a giant cell variant. The patient underwent postoperative regional irradiation and has been alive without metastasis and local recurrence 3 months after the operation. Among the 19 patients with MFH of spermatic cord reported in Japan, only two cases were of giant cell type of MFH including the present case.

Genital Neoplasms, Male↗
PubMed2026

Whole exome sequencing identifies three novel variants and establishes the molecular diagnosis of ATP6V0A4-related distal renal tubular acidosis in a lebanese infant.

BACKGROUND: Distal renal tubular acidosis (dRTA) is a rare inherited disorder characterized by impaired urinary acidification, leading to metabolic acidosis, hypokalemia, nephrocalcinosis, and growth impairment. Pathogenic variants in ATP6V0A4 are among the most common genetic causes of autosomal recessive dRTA. METHODS AND RESULTS: We report a Lebanese infant presenting with failure to thrive, recurrent vomiting, severe hyperchloremic metabolic acidosis, hypokalemia, and bilateral nephrocalcinosis, in whom whole-exome sequencing (WES) was performed to establish the molecular diagnosis and perform a comprehensive genomic evaluation. WES identified three novel variants, including a novel homozygous likely pathogenic ATP6V0A4 variant, consistent with the patient's phenotype. Two additional novel variants in TTN and CEP290 were also detected. Family segregation analysis confirmed the inheritance pattern of all three variants and refined the interpretation of the additional genomic findings. The patient showed sustained clinical and biochemical improvement to alkali therapy, with normalization of biochemical abnormalities and improvement in growth during follow-up. CONCLUSIONS: This report expands the molecular spectrum of ATP6V0A4-related dRTA and illustrates the clinical utility of comprehensive WES combined with segregation analysis for accurate molecular diagnosis, variant interpretation, genetic counseling, and the evaluation of additional genomic findings in rare inherited disorders.

Humans↗
PubMed2005

No allelic variant associations of the IL-1 and TNF gene polymorphisms in the susceptibility to duodenal ulcer disease.

Recent studies have reported the association of a pro-inflammatory profile of genetic polymorphisms in IL-1B, IL-1RN, TNF-A, and IL-10 genes with an increased risk of non-cardia gastric cancer. Because gastric cancer and duodenal ulcer are mutually exclusive outcomes of Helicobacter pylori infection, we aimed to investigate possible allelic variant associations of several functional polymorphisms in the IL-1B, IL-1RN, TNFA, and LTA genes in the susceptibility to duodenal ulcer. Genomic DNA from 118 patients with duodenal ulcer and 97 healthy controls was typed for the IL-1B polymorphisms at positions -511, -31, and +3954, the VNTR polymorphism in intron 2 of the IL-1RN gene, the TNFA-308, TNFA -238, and the NcoI and BsI LTA polymorphisms by PCR, SSCP and TaqMan assays. H. pylori infection and non-steroidal anti-inflammatory drugs (NSAIDs) use was investigated in patients and controls. Logistic regression analysis identified H. pylori infection (OR: 12.86; 95%CI: 3.85-43), NSAID use (OR: 11.95; 95%CI: 4.19-34.05), and family history-ulcer (OR: 3.79; 95%CI: 1.68-8.54) as independent risk factors for duodenal ulcer. When the effect of the combinations of IL-1 and TNF genotypes was studied we found that the distribution of all possible combinations of these eight polymorphisms was similar in duodenal ulcer patients and controls. The simultaneous carriage of alleles IL-1RN*2/IL-1B -31T/IL-1B -511C/IL-IB +3954C/TNF-HaplotypeE negative (termed in some studies as 'low-producing' alleles) was increased in H. pylori-positive duodenal ulcer patients compared to H. pylori-infected healthy controls (10.5% vs. 5.9%) although the difference did not reach statistical significance (OR: 1.85; 95%CI: 0.57-5.99, P = 0.41). Moreover, no differences were found with respect to H. pylori status, NSAID use, age, gender, smoking habit, type of complication, recurrence of the ulcer, and need for surgical treatment. Our data show no association between allelic variants of IL-1 and TNF gene polymorphisms in the susceptibility to and final outcome of duodenal ulcer.

Alleles↗
PubMed1982

Cystic mesothelioma of the peritoneum: a report of five cases and review of the literature.

Five cases of the recently characterized cystic mesothelioma of the peritoneum are presented. The patients, all women, ranged in age from 23-50, and were seen with large, solitary or multiple, multicystic masses involving the abdominal and pelvic peritoneum. Histologically, they consisted of interconnecting cystic cavities lined by a single layer of flattened to cuboidal cells with variable nuclear atypia. These cells in one case showed ultrastructural features consistent with mesothelial origin. In follow-up periods ranging from 1-13 years, two patients have had recurrence of disease, but all patients are still alive. When these cases are combined with the ten previously reported, the recurrence rate in patients followed for two years or more is 50% (four of eight). This lesion may represent a clinically "borderline" variant between the better known benign (adenomatoid tumor) and malignant mesotheliomas of the peritoneum.

Adult↗
PubMed1991

Transient suppression of equine immune responses by equine infectious anemia virus (EIAV).

Suppression of the immune system is a common aspect of the disease pathogenesis associated with retroviral infections in both man and animals. We have measured transient suppression of the equine immune system as a loss or decrease in antigen-specific and polyclonal lymphocyte proliferation following experimental infection of ponies with three variants of equine infectious anemia virus (EIAV) with difference virulence characteristics. The transient suppression of proliferative responses was temporally associated with recurrent febrile episodes, which are the hallmark symptom of EIAV-induced disease. Decreased proliferative responses occurred at all times when EIAV viremia was identified, based on the detection of an infectious virus in plasma or viral proteins on peripheral blood mononuclear cells. The immunosuppression was observed most frequently in ponies infected with virulent variants of EIAV which suggested that this effect may contribute to disease pathogenesis. Suppression of polyclonal proliferative responses was induced in vitro by the addition of either infectious or heat-inactivated EIAV to cultures, demonstrating that the viral structural proteins were immunosuppressive in the absence of infection. These studies indicated that EIAV is similar to other retroviruses in that it has the ability to suppress the immune system.

Animals↗
PubMed2000

Association between M467T and 114 C-->A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain.

Cystinuria is an inherited metabolic disease characterized by an abnormal urinary excretion of cystine and dibasic amino acids. Formation of renal calculi, recurrent infections and renal failure are the main complications of this disease. The SLC3A1 gene, which codes for a dibasic amino acid transporter protein, is involved in the pathogenesis of cystinuria. We investigated the possible association between molecular variants (M467T, E483X, T216 M and 114 C-->A) within the SLC3A1 gene and some phenotypical traits in a Spanish area. The study population consisted of 45 cystinuria patients, 42 cystinuria relatives and 81 healthy control subjects. Only the M467T mutation was found in chromosomes of cystinuria patients and relatives. However, the 114 C-->A polymorphism was detected in cystinuria patients, in relatives and in control subjects but with different prevalences. Moreover, a statistically significant association between this polymorphism and urinary amino acid levels was found in cystinuria patients (P<0.05). Subjects with the C/C genotype showed significantly higher urinary levels of cystine, arginine and their sum as compared with carriers of the A allele (P<0.05). When multiple linear regression analysis was performed in cystinuria patients, the 114 C-->A polymorphism remained significantly associated (P=0.047) with cystine levels even after controlling for age, gender and the M467T mutation. Furthermore, we also found a statistically significant interaction term (P=0.028) between M467T and 114 C-->A in determining urinary cystine levels. According to our results, the 114 C-->A polymorphism might be a marker of a functional variant in the SLC3A1 gene or in other genes related to urinary amino acid excretion in cystinuria patients.

Adult↗
PubMedDate not supplied

Microcystic variant of localized malignant mesothelioma accompanying an adenomatoid tumor-like lesion.

The case of a 70-year-old man with a hitherto undescribed pleural mesothelioma is reported. The tumor was localized in the left lung apex and had invaded the parietal pleura. Histologically, the tumor was characterized by a proliferation of epithelioid cells and the formation of microcysts. The tumor cells were positive for calretinin and vimentin, and possessed abundant microvilli, indicating a mesothelial cell origin for the tumor. A high Ki-67 index and mitotic index, and the recurrence of the tumor after surgery, indicated malignancy. Based on the evidence, we propose that the tumor is a microcystic variant of a localized malignant mesothelioma.

Adenocarcinoma↗
PubMed2003

[Frequency of CFTR gene mutations in idiopathic pancreatitis].

UNLABELLED: The prevalence of mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene in idiopathic chronic pancreatitis has been shown to be increased. The aim of this study was to prospectively analyze the frequency of such mutations in a homogeneous group of patients with idiopathic pancreatitis studied in a French Gastroenterology department. PATIENTS AND METHODS: Between April 1999 and December 2001, all patients with unexplained chronic or recurrent acute pancreatitis were studied. Other causes of pancreatitis were excluded and no patient had personal signs or family history compatible with cystic fibrosis. Following informed written consent, genetic analysis for CFTR was performed using an oligonucleotid ligation assay, on the 31 most frequently known mutations of the CFTR gene. A complementary analysis for variants in exons 9, 10 and 17a, thought to be implicated in atypical cystic fibrosis, was also performed using denaturing gradient gel electrophoresis. RESULTS: Idiopathic pancreatitis occurred in 64 patients (chronic, n=30; recurrent acute, n=34) with a median age of 36 years. Eighteen CFTR mutations or variants were detected in 16 patients (25%): DeltaF508 (n=7), L997F (n=2), E528E (n=4), 5T (n=5). Two patients were compound heterozygous. The frequency of DeltaF508 mutations was greater than that of the general population (10.9 vs 2.4%; P<0.001). Pancreatitis was diagnosed at a median age of 32 years in mutation-positive patients compared to 39 in mutation-negative patients. The prevalence of CFTR mutations was 35.5% in patients < or =35 years against 15.1% in those > 35 years (P=0.06). The clinical course of pancreatitis (severity and complication rates) was not altered by the presence of a mutation. CONCLUSION: One-quarter of all patients and one-third of those < or =35 years with idiopathic pancreatitis have at least one mutation of the CFTR gene. The presence of a CFTR mutation appears to predict the development of pancreatitis at an earlier age.

Acute Disease↗
PubMed1981

[Coronary artery spasms with normal coronary arteries as the cause of recurrent ventricular fibrillations].

Coronary arterial spasms are thought to be responsible for acute myocardial infarction in some patients with normal coronary arteries. A report is presented on a patient with a history of Prinzmetal angina pectoris involving ST-segment elevations in the electrocardiogram and recurrent ventricular fibrillation. Selective coronary arteriography revealed normal coronary arteries. Administration of nifedipin and isosorbide dinitrate brought about prompt relief of pain. One year after cardiac catheterization the patient developed recurrent ventricular arrhythmias when administration of nifedipin was discontinued. It is concluded that coronary arterial spasms may occur in patients with normal coronaries and may cause transient myocardial ischemia with severe ventricular arrhythmias. A history of Prinzmetal angina pectoris is usually present and medical treatment consists in administration of nifedipin and isosorbide dinitrate.

Angina Pectoris↗
PubMed1992

The solid variant of adenoid cystic carcinoma of the cervix.

We studied seven examples of the solid variant of adenoid cystic carcinoma of the uterine cervix in postmenopausal women who presented with vaginal bleeding and a large ulcerated or polypoid cervical mass. The tumors lacked the characteristic cribriform pattern of conventional adenoid cystic carcinoma. The neoplastic cells were small, undifferentiated, or basaloid and grew in cords, nests, trabeculae, and nodules. Foci of squamous cell carcinoma were seen in three tumors and areas of necrosis in four. A characteristic feature was the production of abundant periodic acid-Schiff's procedure (PAS)-positive basement membrane material that was immunoreactive for collagen IV and that in some areas compressed tumor cells. Electron microscopy on three cases showed globules and cylinders of redundant basal lamina. The tumor cells were joined by desmosomes and contained bundles of tonofilaments. Material similar to basement membrane material appeared to be intracytoplasmic in two tumors. No neurosecretory granules or myoepithelial cells were found. Four deaths were tumor related. Two patients are currently alive, but with local recurrence or metastases; another is alive and well 19 months after surgery. We believe that the solid variant of adenoid cystic carcinoma of the cervix is a distinctive neoplasm that should be separated from small cell carcinomas with or without endocrine features, adenoid basal cell carcinoma, and squamous cell carcinoma.

Aged↗
PubMed2002

Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms.

The recent development of a set of chromosome-specific, subtelomeric probes has proved useful in diagnosis and recurrence risk counseling of patients and families with mental retardation and in further characterization of known chromosomal abnormalities. Cases of cryptic, subtelomeric rearrangements may account for up to 7.5% of cases of idiopathic moderate-severe mental retardation. We present the molecular cytogenetic studies of trisomy 14q detected by subtelomeric fluorescence in situ hybridization (FISH). Our patient is a 3-year-old girl with growth and developmental delay, myelomeningocele, partial agenesis of the corpus callosum, hypertelorism, tented mouth, simple ears, small mandible, and congenital heart disease (atrial and ventricular septal defects with subaortic conus). G-banded chromosome analysis was apparently normal. A set of FISH-based, subtelomeric, region-specific probes revealed trisomy for 14q in the child. Parental FISH studies established that the mother is a balanced carrier for a half-cryptic translocation between the distal long arm of chromosome 14 and the short arm of chromosome 22. FISH analysis using two BAC clones that contain the imprinted genes MEG3 and DLK1, which localize to 14q32, established that our patient has two maternal copies of these genes. Because the child does not have features of the maternal UPD 14 syndrome, this case suggests that it is absence of expression of a paternally expressed gene, rather than overexpression of a maternally expressed gene, that is responsible for the maternal UPD 14 phenotype.

Abnormalities, Multiple↗
PubMed1985

Gastric epitheloid leiomyomas, pulmonary chondroma, non-functioning metastasizing extra-adrenal paraganglioma and myxoma: a variant of Carney's triad. Report of a patient.

A female suffering from a complete Carney's triad (two gastric epithelioid leiomyomas, recurrent and metastasizing laryngeal paraganglioma, and pulmonary chondroma or hamartoma), and from a myxoma is described. The time elapsed between the detection of the gastric tumors and the metastases of the paraganglioma was 19 years.

Chondroma↗