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PubMed2005

Additional chromosome in a child as a result of a balanced reciprocal translocation t(12;18)(p13;q12) in his mother's karyotype.

In this case report we present a child with an additional chromosome in the karyotype. The karyotypes of the boy and his parents were analyzed by use of a conventional banding technique (GTG) and fluorescence in situ hybridization (FISH). Probes painting whole chromosomes 12 and 18 were used in FISH. Cytogenetic examination of the parents revealed that his mother was carrying balanced reciprocal translocation between chromosomes 12 and 18. Her karyotype was described as 46,XX,t(12;18)(p13;q12). Father's karyotype was normal, described as 46,XY. The boy's karyotype was defined as 47,XY,+der(18)t(12;18)(p13;q12). The additional chromosome appeared probably due to 3:1 meiotic disjunction of the maternal balanced translocation, known as tertiary trisomy. The mother displayed a normal phenotype and delivered earlier a healthy child. However, the boy with the unbalanced karyotype shows multiple congenital abnormalities.

Abnormalities, Multiple↗
PubMed1992

Human pancreatic carcinomas and cell lines reveal frequent and multiple alterations in the p53 and Rb-1 tumor-suppressor genes.

The molecular pathology of human pancreatic cancer is poorly understood, particularly with regard to the role of known tumor-suppressor genes. We have examined the expression of the p53 and Rb-1 tumor-suppressor genes in seven human pancreatic carcinoma cell lines and 10 primary pancreatic carcinomas. Examination of the Rb-1 gene by Northern hybridization and immunoprecipitation analyses revealed the absence of Rb-1 protein expression in two cell lines. Moreover, regions of absent nuclear staining in two primary pancreatic carcinomas were detected by immunohistochemical analysis. Investigation of p53 by Southern, Northern, immunohistochemical and immunoprecipitation analyses revealed multiple abnormalities, including gross rearrangements in two cell lines, the absence of detectable p53 transcript in two cell lines and a truncated transcript in one line. Six cell lines overexpressed p53 protein, while one line revealed the absence of p53 product by immunohistochemical and immunoprecipitation analyses. Sequence analysis of exons 5-8 of the p53 gene confirmed these analyses, revealing missense mutations in all seven cell lines in codons 181, 220, 248, 249, 265, 272 and 273. Of 10 mutations identified, nine were transitions and 50% were in codon 273. Immunohistochemical analyses of frozen primary pancreatic carcinomas revealed positive nuclear staining for p53 in 40% of cases. Mutations were identified in codons 238 and 286 and in intron 9 in several representative specimens. Alterations in the p53 and Rb-1 genes may be important features in the development of human pancreatic cancer.

Base Sequence↗
PubMed1992

Hepatic changes during short-term haemodialysis.

Twenty five patients with end stage renal disease were studied to find out the biochemical and hepatic morphological changes during short term haemodialysis. Asymptomatic hepatomegaly was seen in 32% of cases, transaminase elevation in 28% and positive Australia antigen in 12% of cases. Histopathological changes were observed in all the 12 patients in whom liver biopsy was done. Ten patients (82%) exhibited multiple abnormalities. The commonest findings were fatty change (8 patients); hepatic congestion, focal necrosis, Kupffer cell hyperplasia (6 patients each); and portal triaditis (5 patients).

Adult↗
PubMed2005

Disrupted Schwann cell-axon interactions in peripheral nerves of mice with altered L1-integrin interactions.

The cell adhesion molecule L1 is important for peripheral nerve development. Mice lacking the 6th Ig domain of L1 (L1-6D mice) lose L1 homophilic binding and RGD dependent LI-integrin binding [Itoh,K., Cheng, L., Kamei, Y., Fushiki, S., Kamiguchi, H., Gutwein, P.,Stoeck, A., Arnold, B., Altevogt, P., Lemmon, V., 2004. Brain development in mice lacking Li-L homophilic adhesion. J. Cell Biol.165, 145-154]. We examined the ultrastructure of sciatic nerves from L1-6D at postnatal day 7 and 8 weeks. Unmyelinated axons frequently detached at the edge of Schwann cells, and naked axons were observed. Myelin was thinner in L1-6D and abnormal, multiple axons wrapped in a single myelin sheath were routinely observed. Previous work has shown that L1 on axons interacts with a heterophilic binding partner on Schwann cells to facilitate normal peripheral nerve formation. Taken together, it is likely that L1 on axons binds integrins on Schwann cells, resulting in interactions between axons and Schwann cells that are essential for ensheathment and myelination.

Animals↗
PubMed2001

The role of diagnostic selective nerve root blocks in the management of spinal pain.

Biochemical mechanisms to explain pain generation began relatively recently. Evaluating pain originating from the spine can be challenging because no historical or physical examination findings are sufficiently sensitive or specific for identifying each of the myriad of potential pain generators. These discrete anatomic structures include the nerve root, disc annulus, posterior longitudinal ligament, sacroiliac joint, and facet joint. The diagnostic selective nerve root block is a useful test to determine the etiology of pain when other testing is inconclusive. If a patient with radicular symptoms has non-corroborative visual anatomic and neurophysiologic testing, diagnostic selective nerve root block may elucidate the level of pain generation. Also, in a patient with multiple abnormalities on visual anatomic testing, the lesion of clinical significance can be identified. However, this test may not be necessary in the patient when the specific radiculopathy level diagnosis is apparent; this is the case when a characteristic history and physical examination have a corroborative single-level imaging lesion. Determining which level is generating symptoms has implications for subsequent physical therapy, therapeutic injections, and surgery. This review of selective nerve root blocks describes the relevant anatomy, pathophysiology, rationale, clinical utility, and complications.

Journal Article↗
PubMed2006

[Cord blood transplantation after successful treatment of brain abscess caused by Bacillus cereus in a patient with acute myeloid leukemia].

Central nervous system infection caused by Bacillus cereus is a rare condition, which often progresses rapidly and is fatal in immunocompromised patients. A 54-year-old woman with acute myelogenous leukemia fell into a coma with high fever during severe neutropenia while undergoing chemotherapy. A blood culture demonstrated the presence of B. cereus and magnetic resonance imaging showed multiple abnormal lesions in her brain. The patient was treated with meropenem and vancomycin, and recovered from the coma in a week. Antibiotic therapy was administered for seven weeks, and then she underwent cord blood transplantation for refractory acute myelogenous leukemia with successful engraftment without exacerbation of the brain abscess. This case demonstrates that brain abscess caused by B. cereus can be treated without surgical treatment.

Bacillus cereus↗
PubMed1992

Dysplastic nevi and the dysplastic nevus syndrome.

Patients with all the clinical features of FDNS but no family history of multiple abnormal nevi or melanoma can be compared with patients with neurofibromatosis due to a spontaneous mutation of the gene in utero. Whether or not such patients are in fact genetically identical to patients with FDNS and share their high risk of malignant melanoma remains to be determined. An isolated dysplastic nevus alone is not an adequate definition of SDNS, because current data are insufficient to show that its presence correlates with a uniquely high risk of melanoma when compared with other known risk factors. Until more specific tests for the FDNS gene become available, the diagnosis of SDNS must be made on the basis of close clinical and histopathologic resemblance to FDNS. Patients who present as adults with one or a few dysplastic nevi are best not labeled as having SDNS, because that label implies a genetic identity with FDNS that is probably not true and that deflects attention from other risk factors that are at least as important in estimating individual risks of developing melanoma.

Diagnosis, Differential↗
PubMedDate not supplied

[Clinical characteristics and results of microsurgical treatment of bilateral congenital cataracts associated with microphthalmos].

Examinations of 146 children (267 eyes) with bilateral congenital cataracts and microphthalmia have revealed complete microphthalmia in 66 percent of cases, anterior microphthalmia (microcornea) in 34 percent, and various solitary and multiple abnormalities of the anterior section of the eye: microcornea, ectopic pupil, no pupil, a pupil membrane, iridal hypoplasia and aplasia, iridocorneal adhesions, etc. A total of 224 cataract extractions by the aspiration irrigation method were carried out with the use of microsurgical equipment. In cases with abnormalities of the anterior segment of the eye and with some abnormalities of the posterior segment cataract extraction was coupled with reconstructive surgery (creation and center adjustment of the pupil, adhesion dissection, removal of the pupil and hyaline membranes, etc.). Good effect was achieved in 98.2 percent of cases, vision acuity improved in 9.2 percent of cases. Vision acuity of 0.05-0.3 diopters (with eyeglass correction) was achieved in 74.1 percent of cases, that of 0.1-0.3 diopters in 29.9 percent. Anatomical and functional inadequacy of the eye, abnormalities of the fundus oculi, and deprivation amblyopia are responsible for poor functional results. The results evidence a possibility of rehabilitation of children with grave congenital conditions, bilateral congenital cataracts with microphthalmia.

Cataract↗
PubMed1991

Cardiac dysfunction in patients seropositive for the human immunodeficiency virus.

To confirm the presence of cardiac dysfunction in a group of patients seropositive for the human immunodeficiency virus with either dyspnea on exertion or a reduced anaerobic threshold, 9 patients with no history of opportunistic infection underwent exercise right-sided heart catheterization. When compared with 13 control patients previously exercised in the same manner, the patients showed elevated exercise pulmonary capillary wedge pressure (14.6 +/- 3.3 mm of mercury versus 9.9 +/- 3.3 mm of mercury; P less than .005) and right atrial pressure (10.1 +/- 2.1 mm of mercury versus 4.7 +/- 3.2 mm of mercury; P less than .001) at a similar exercise oxygen consumption and cardiac index. Of the 9 patients, 8 had at least 1 catheterization value outside the 95% confidence limits for the control group and 4 patients had multiple abnormalities. Values for blood CD4 lymphocytes were 0.2 x 10(9) per liter or more for 7 of the 9. One patient underwent endomyocardial biopsy with findings consistent with a cardiomyopathy. We conclude that cardiac disease may occur at any immunologic stage of human immunodeficiency virus infection. These observations suggest an effect of this disease on the heart.

Adult↗
PubMed1991

[A case of primary Sjögren's syndrome presenting as osteomalacia secondary to renal tubular acidosis].

We report a 43-year-old female with primary Sjögren's syndrome (SjS) who presented as osteomalacia due to distal renal tubular acidosis (RTA). Osteomalacia was thought to be a rare complication of RTA in SjS, although it had been often described in association with RTA in general. In 1979, she presented with dry mouth, parotid gland swelling and leg purpura. A diagnosis of primary SjS and hyperglobulinemic purpura was made on the basis of positive staining with Rose Bengal stain, sialography of the parotid gland and histological examination of the salivary gland of the lip. She was admitted to Jichi Medical School Hospital in March 1988 with chest pain. X-ray films revealed pseudofractures of bilateral ribs. Bone scanning showed abnormal multiple accumulation of RI on the same parts. Laboratory studies on admission revealed: GOT 50 IU/ml, GPT 9 IU/ml, ALP 190 IU/ml, LDH 301 IU/ml, BUN 11.0 mg/dl, creatinine 1.0 mg/dl, uric acid 2.7 mg/dl, total protein 7.4 g/dl (gamma globulin 22.3%), sodium 141 mEq/l, potassium 3.7 mEq/l, chloride 106 mEq/l, calcium 8.9 mg/dl, and phosphorus 2.4 mg/dl. Arterial blood gas studies on room air showed: PO2 96.7mmHg, PCO2 35.5mmHg, HCO3-19.1 mEq/l, PH 7.347 and base excess -5.4 mEq/l. The urinalysis showed: specific gravity 1.008, PH 7.0, and no protein and glucose. Immunologically, antinuclear antibody was positive at 1:640 with a speckled pattern. Anti-DNA antibody was negative. Antibodies to SS.A and SS.B were 1:64 and 1:32 respectively. Distal RTA was confirmed by the sodium bicarbonate and NH4Cl loading test.(ABSTRACT TRUNCATED AT 250 WORDS)

Acidosis, Renal Tubular↗
PubMed1991

Ventilation-perfusion inequality in patients with non-alcoholic liver cirrhosis.

Ventilation-perfusion relationships were studied in patients with non-alcoholic liver cirrhosis. Spirometry was essentially normal but the transfer factor of the lung (DLCO) was reduced by an average 34% of predicted. Arterial oxygen tension (PaO2) ranged from normal down to 6.9 kPa. Varying degrees of ventilation-perfusion (VA/Q) abnormalities (multiple inert gas elimination technique) were observed with increased dispersion of the perfusion distribution (log SDQ, 0.90; range 0.32-1.71; upper normal limit, 0.60) and the presence of both regions of low VA/Q ratios (between 0.1 and 0.005) (mean 4.1%; range 0-18.8%) and shunt (VA/Q ratios below 0.005) (mean 3.9%; range 0.19.8%). There was a close similarity between measured and calculated PaO2 in normoxaemic patients, but calculated values exceeded measured PaO2 in hypoxaemic patients. The difference between calculated and measured PaO2 correlated inversely to DLCO (r = 0.65, p less than 0.05). An inverse correlation was also noted between DLCO and the sum of shunt and low VA/Q regions (r = 0.87, p less than 0.001). It is concluded that hypoxaemia in non-alcoholic liver cirrhosis patients can be accounted for by intrapulmonary shunting and VA/Q mismatch, and possibly a "diffusion-perfusion" defect in patients with more severe gas exchange impairment.

Adult↗
PubMedDate not supplied

Pathophysiology and treatment of septic shock.

The mortality from septic shock continues to range between 40% to 60% despite advances in cardiovascular support and antibiotic therapy. Impairment of host defenses predisposes to the development of both severe infection and septic shock. The activation of a myriad of cellular and plasma mediators by microbial toxins produces the systemic and metabolic manifestations of sepsis. The clinical presentation includes characteristic clinical, hemodynamic, and laboratory abnormalities. Multiple organ systems are involved during septic shock, with outcome dependent on the circulatory response and the development of sequential organ failures. Initial resuscitation is directed at restoring tissue perfusion with fluids and vasoactive drugs, guided by assessment of the patient's hemodynamic status. Identification of the site of infection and choice of appropriate antibiotics are critical to the success of therapy. Newer therapeutic modalities include immunologic interventions that attenuate mediator activity and modulate the immune response. Pharmacologic therapies are also being developed that are aimed at blocking the actions of specific mediators.

Energy Metabolism↗
PubMed1976

[Intraspinal venous hypertension due to multiple anomalies in the caval system. A major cause of myelopathies].

Increased venous intraspinal pressure is described as a venous system disease, resulting in numerous unexplained paraplegias and tetraplegias. The chronic venous stasis in the intraspinal plexuses, into which the circulation of the spinal cord is drained, is due to the association of multiple abnormalities (stenoses, compressions, thromboses) on the major pathways of the caval and azygos system. The abnormalities, most of which are not known, are demonstrated by a special procedure, the cavo-spinal phlebography, and some of them are subjected to surgery.

Azygos Vein↗
PubMed1990

[Retrospective study on abortions of malformed fetuses carried out during a 5-year period in the department of Bouches-du-Rhône].

The authors report a retrospective study of therapeutic abortions for antenatally diagnosed abnormalities, 146 fetuses are concerned during a five years period, an anatomo-pathological examination have been performed in all cases, malformations of central nervous system are the most frequent (62). 26 urologic abnormalities are especially detailed. There are 10 isolated urologic abnormalities, and 16 abnormalities multiples. All fetuses had renal lesions which could justified an intervention but the declaration at registration of congenital birth defects is not obligatory. A multidisciplinary approach to prenatal diagnosis and congenital birth must still developed for a better understanding.

Abortion, Induced↗
PubMed1990

Growth factor-dependent differentiation along the myeloid and lymphoid lineages in an immature acute T lymphocytic leukemia.

Bone marrow cells from a child with an immature (CD2+, CD5+, CD7+) acute T lymphocytic leukemia (T-ALL) were cultured in the presence and absence of human rIL-2, IL-3, or granulocyte-macrophage (GM)-CSF. Cells cultured without growth factors failed to divide and those initiated in the presence of IL-2 or GM-CSF underwent maturation and terminal T lymphoid or myelomonocytic differentiation, respectively. In contrast, a permanent growth factor-dependent cell line, designated TALL-103/3, was established upon culture in IL-3. The TALL-103/3 cells gradually lost the T cell-specific markers and acquired a myeloid phenotype (CD15+, CD33+). Switching of the IL-3-dependent cells at an early passage to medium containing only human rIL-2 resulted in the establishment of a subline, named TALL-103/2, with a T lymphoid phenotype (CD3+, CD8+, TCR-gamma delta +, CD7+). The TALL-103/2 cells strictly require IL-2 for growth, are irreversibly committed to the lymphoid lineage, and cannot survive in the presence of any other hemopoietic growth factor tested so far. In contrast, the IL-3-dependent TALL-103/3 cells could be adapted to grow in synthetic (serum-free) medium also in the presence of either GM-CSF or IL-5, in which they retain a myeloid phenotype. Interestingly, after 18 mo in culture in IL-3, the TALL-103/3 cells can still be phenotypically converted to the lymphoid lineage upon addition of IL-2, thus maintaining its bipotentiality. Despite the marked phenotypic differences, the TALL-103/2 and TALL-103/3 cell lines show the same karyotypes with multiple abnormalities present in the primary malignant clone and have identical rearrangements of the TCR-gamma and -delta loci, thus confirming their derivation from a common precursor cell. Together, these findings indicate that the phenotype of immature T-ALL cells can be drastically modified by the presence of specific hemopoietic growth factors in the environment, leading to either lymphoid or myeloid lineage commitment while leaving their karyotype and genotype intact.

Antigens, CD↗
PubMed1990

Generalized lymphangiectasis in a dog with subcutaneous chyle and lymphangioma.

A 2 1/2-year-old spayed Great Dane was evaluated for large, fluctuant, chyle-containing swellings on the ventral portion of the left side of the abdomen. Multiple abnormalities of the lymphatic system were diagnosed, including thoracic duct obstruction, lymphangioma, subcutaneous chyle reflux, intestinal lymphangiectasia, and dilatation of hepatic, mesenteric, and pleural lymphatic vessels. Mesenteric lymphangiography revealed leakage of contrast medium into the subcutaneous tissues adjacent and to the left of the second lumbar vertebral body. Dietary and surgical management to control the chylous reflux were unsuccessful, and the dog died approximately one year after the skin lesions were first observed.

Animals↗