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PubMed2005

Prothrombotic factors in children with stroke or porencephaly.

OBJECTIVE: This study compared the frequencies of genetic and functional coagulation abnormalities in children with arterial ischemic stroke or porencephaly with frequencies in previously published studies. METHODS: A series of 59 children (age 0-18 years) with arterial ischemic stroke or porencephaly were referred to the National Institutes of Health. A blood sample, buccal smear sample, questionnaire, and pedigree were requested for each child. Blood samples were analyzed for protein C (PC); protein S; antithrombin (AT); activated PC resistance (APCR); lipoprotein (a) [Lp(a)]; lupus anticoagulant; anticardiolipin antibodies; and the methylenetetrahydrofolate reductase C677T (MTHFR), factor V G1619A, factor II G20210A (PT), plasminogen activator inhibitor-1 4G6755G, and tissue factor pathway inhibitor C536T mutations. The frequency of each coagulation abnormality was compared with published international pediatric stroke case and control rates. RESULTS: At least 1 prothrombotic abnormality was identified in 63% (36 of 57) of children studied, including plasminogen activator inhibitor-1 4G6755G (15 of 56), MTHFR (12 of 56), elevated Lp(a) (12 of 59), APCR (11 of 58), factor V G1619A (5 of 57), PT (3 of 57), PC deficiency (1 of 59), and AT deficiency (1 of 59). The MTHFR mutation, elevated Lp(a), the PT mutation, and AT deficiency rates were similar to rates in cases and more common than control subjects in previously published studies. The rate of children with APCR or multiple abnormalities was higher than in previous pediatric stroke studies. A family history of early thrombosis was identified in one third of the children with a prothrombotic abnormality. CONCLUSIONS: Two thirds of children in this study had at least 1 of the prothrombotic risk factors tested, and several children had multiple risk factors. These results provide additional evidence that prothrombotic abnormalities are common among children with AIS or porencephaly.

Adolescent↗

PubMed2002

Ocular findings in children with congenital sensorineural hearing loss.

OBJECTIVE: To examine the yield of ophthalmologic examination in the diagnostic workup of unexplained sensorineural hearing loss (SNHL) in children. DESIGN: Retrospective analysis of ophthalmologic findings in children with unilateral or bilateral SNHL between January 1998 and May 2000. SETTING: Tertiary care university hospital. PARTICIPANTS: Children 18 years or younger presenting with unilateral or bilateral SNHL. OUTCOME MEASURES: Ophthalmologic findings. RESULTS: Of the 49 patients with SNHL for whom ophthalmologic examination results were available, 15 (31%) had ocular abnormalities. Hyperopia was the most common abnormality, present in 7 patients (46%). Myopia was found in 2 patients (13%) and astigmatism in 1 (2%). Two other patients had multiple abnormalities: one with hyperopia and astigmatism and the other with myopia and astigmatism. The remaining 4 patients had the following abnormalities: Lisch nodules, esotropia, ptosis, and allergic conjunctivitis. As a result of ophthalmologic examination, 5 interventions were performed in 4 children: 2 children received prescription lenses; 2 children underwent surgery; and 1 child was treated with eyedrops. Ophthalmologic examination in 2 children contributed to the diagnosis of a hearing loss syndrome. CONCLUSION: In children with SNHL, ophthalmologic examination is useful in evaluating visual acuity and determining or confirming the cause of hearing impairment.

Adolescent↗

PubMed2005

Peripheral blood MDS score: a new flow cytometric tool for the diagnosis of myelodysplastic syndromes.

BACKGROUND: Myelodysplastic syndromes (MDS) are a heterogeneous group of hematopoietic disorders diagnosed using morphologic and clinical findings supported by cytogenetics. Because abnormalities may be subtle, diagnosis using these approaches can be challenging. Flow cytometric (FCM) approaches have been described; however the value of bone marrow immunophenotyping in MDS remains unclear due to the variability in detected abnormalities. We sought to refine the FCM approach by using peripheral blood (PB) to create a clinically useful tool for the diagnosis of MDS. METHODS: PB from 15 patients with MDS was analyzed by multiparametric flow cytometry using an extensive panel of monoclonal antibodies. Patterns of neutrophil antigen expression were compared with those of normal controls (n = 16) to establish light scatter and/or immunophenotypic abnormalities that correlated with MDS. A scoring algorithm was developed and validated prospectively on a blinded patient set. RESULTS: PB neutrophils from patients with MDS had lower side scatter and higher expression of CD66 and CD11a than did controls. Some MDS PB neutrophils demonstrated abnormal CD116 and CD10 expression. Because none of these abnormalities proved consistently diagnostic, we sought to increase the power of the assay by devising a scoring system to allow the association of multiple abnormalities and account for phenotypic variations. The PB MDS score differentiated patients with MDS from controls (P < 0.0001) in the test set. In a prospective validation, the PB MDS score successfully identified patients with MDS (sensitivity 73%, specificity 90%). CONCLUSIONS: FCM analysis of side scatter and only four additional immunophenotypic parameters of PB neutrophils using the PB MDS score proved more sensitive than standard laboratory approaches and may provide an additional, more reliable diagnostic tool in the identification of MDS.

Aged↗

PubMed1992

Coagulation-factor deficiencies and abnormal bleeding in Noonan's syndrome.

Noonan's syndrome is characterised by a dysmorphic facies, congenital heart disease, and short stature, and is inherited as an autosomal dominant trait. Because abnormal bleeding has also been reported, we investigated a group of patients for coagulation-factor deficits. Of the 72 individuals studied (37 male, 35 female, mean age 11.4 years), 47 (65%) had a history of abnormal bruising or bleeding. 29 patients (40%) had a prolonged activated partial thromboplastin time. Specific abnormalities in the intrinsic pathway of coagulation (partial factor XI:C, XII:C, and VIII:C deficiencies) were found in 36 patients (50%). Multiple abnormalities among these 36 patients included combined factor XI:C and XII:C deficiencies (4 patients) and factor XI:C and VIII:C deficiencies (4), and 1 patient had combined factor VIII:C, XI:C, and XII:C deficiency. There was poor correlation between a history of abnormal bleeding and coagulation-factor deficit. In five families, similar coagulation-factor deficiencies were present in first-degree relatives with the syndrome. The pattern of inherited bleeding abnormalities seen in Noonan's syndrome suggests autosomal regulation of the intrinsic coagulation pathway.

Adolescent↗

PubMed1997

HbC compound heterozygotes [HbC/Hb Riyadh and HbC/Hb N-Baltimore] with opposing effects upon HbC crystallization.

Compound heterozygotes of variant haemoglobins (Hbs) with HbC, with or without novel phenotypic changes, have provided insight into the molecular basis of the interacting haemoglobins and information concerning the role of specific residues in the crystallization of oxy HbC. A high phosphate buffer system has proved useful for studying the effects of variant haemoglobins (naturally co-existing with HbC in the red cell) on the oxy HbC crystallization process and has led us to conclude that beta87 and beta73 are contact sites of the oxy HbC crystal. We now present investigations from two HbC compound heterozygotes which exhibit opposing effects upon HbC crystallization: HbC/Hb N-Baltimore (beta95 Lys-->Glu) and HbC/Hb Riyadh (beta120 Lys-->Asn). The latter inhibits the in vitro crystallization of HbC, explaining the lack of erythrocyte abnormalities (with the exception of microcytosis) in the doubly heterozygous infant. In contrast, Hb N-Baltimore accelerates the crystallization of HbC, contributing to multiple abnormalities in red cell morphology, albeit in the absence of morbidity. We conclude that (1) beta120 and beta95 are additional contact sites in the crystal, and (2) the HbC/Hb Riyadh haemoglobinopathy demonstrates that crystallization may not be required for the generation of the observed microcytosis and increased red cell density in HbC-containing red cells.

Adult↗

PubMed2000

Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region.

Hemizygous interstitial deletions in human chromosome 22q11 are associated with velocardiofacial syndrome and DiGeorge syndrome and lead to multiple congenital abnormalities, including cardiovascular defects. The gene(s) responsible for these disorders is thought to reside in a 1.5-Mb region of 22q11 in which 27 genes have been identified. We have used Cre-mediated recombination of LoxP sites in embryonic stem cells and mice to generate a 550-kb deletion encompassing 16 of these genes in the corresponding region on mouse chromosome 16. Mice heterozygous for this deletion are normal and do not exhibit cardiovascular abnormalities. Because mice with a larger deletion on mouse chromosome 16 do have heart defects, the results allow us to exclude these 16 genes as being solely, or in combination among themselves, responsible for the cardiovascular abnormalities in velocardiofacial/DiGeorge syndrome. We also generated mice with a duplication of the 16 genes that may help dissect the genetic basis of "cat eye" and derivative 22 syndromes that are characterized by extra copies of portions of 22q11, including these 16 genes. We also describe a strategy for selecting cell lines with defined chromosomal rearrangements. The method is based on reconstitution of a dominant selection marker after Cre-mediated recombination of LoxP sites. Therefore it should be widely applicable to many cell lines.

Abnormalities, Multiple↗

PubMed1997

Bilateral clinical anophthalmos.

We report on the risk factors, associations and outcome of 5 children with bilateral clinical anophthalmos. Our study showed no gestational, environmental or hereditary association but confirmed strong association with multiple systemic abnormalities.

Abnormalities, Multiple↗

PubMed1988

Ophthalmo-acromelic syndrome.

We report two sibships with children who had anophthalmia, multiple limb abnormalities, and consanguineous parents. The same association of malformations has already been reported. These further observations allow a better delineation of the syndrome and confirm its autosomal recessive mode of inheritance. We propose to name the syndrome ophthalmo-acromelic.

Abnormalities, Multiple↗

PubMed1997

[Developmental genes and dysmorphology].

Until recently, clinical dysmorphology was the poor parent of clinical medicine and human genetics. However, the studies of children affected with multiple congenital abnormality syndromes are the first step to recognize syndromes for diagnosis identification, leading to prognosis and care for the children and to genetic counseling for the family. These studies must lead to the identification and analysis of developmental genes involved in normal and abnormal morphogenesis. Dysmorphology leads to a better understanding of abnormal development, genetic causes and embryological development. The identification of different genes from various gene families involved in dysmorphogenesis has recently emerged. These developmental genes often act as patterning genes and as possible oncogenes; they are of interest for developmental biologists and for medical geneticists.

Abnormalities, Multiple↗

PubMed1993

Cytogenetic abnormalities in a disseminated medulloblastoma.

A 3-year-old girl developed central nervous system, bone and bone marrow metastases, and hypercalcaemia shortly after presentation with medulloblastoma. Cytogenetic studies of the involved bone marrow showed multiple abnormalities including iso(17q). This chromosome rearrangement has been reported in other cases of recurrent or disseminated medulloblastoma. More studies are required relating the karyotypes of medulloblastomas to long-term outcome to determine if the presence of iso(17q) is a prognostic factor in this malignancy.

Bone Neoplasms↗

PubMed1990

Evidence that an abnormality in the glycoprotein Ib alpha gene is not the cause of abnormal platelet function in a family with classic Bernard-Soulier disease.

The underlying molecular basis for Bernard-Soulier Disease (BSD) is currently unknown. Platelets from patients with this autosomal recessive bleeding disorder have multiple abnormalities, including a markedly reduced von Willebrand factor-dependent adhesiveness due to a deficiency of the platelet membrane glycoprotein (GP) Ib/IX complex. In the present studies, we have used an intragenic restriction fragment length polymorphism (RFLP) for Taq I in the GPIb alpha gene to study linkage between this gene and the inheritance of BSD in a family with two affected siblings. Whereas the proband was heterozygous, showing both the 0.7 and 4.0 kb bands of this polymorphism (A/B), her affected brother was homozygous for the 0.7 kb band (A/A). Accordingly, these siblings did not inherit the same pair of GPIb alpha alleles from their parents. Additionally, one child of the proband was A/A, while the second studied child was A/B, with neither showing any evidence of BSD. No construct of heterozygosity or homozygosity for GPIb alpha alleles in this family is consistent with a model in which one or more defective GPIb alpha alleles could produce BSD. RFLP analysis with BamHI or HindIII showed entirely normal patterns in the patients, indicating the absence of any gross deletion of the GPIb alpha gene. GPIb alpha mRNA from patient platelets was reverse transcribed and subsequently amplified by the polymerase chain reaction, demonstrating the presence of GPIb alpha transcript. Furthermore, trace amounts of GPIb could be shown on the surface of patient platelets. Based on these results, a defect in the GPIb alpha gene is unlikely to be the cause of BSD in this family.

Base Sequence↗

PubMed1987

Stage I nonseminomatous germ cell tumors of the testis: radiologic follow-up after orchidectomy.

One hundred and forty-seven patients with clinical stage I nonseminomatous germ cell tumors of the testis were entered into a follow-up program after orchidectomy. Follow-up consisted of regular clinical examinations, estimations of the serum markers beta human chorionic gonadotropin and alpha-fetoprotein, chest radiography, follow-up lymphangiography, and computed tomography (CT) of the chest and abdomen. The criteria for the diagnosis of recurrence of disease were (a) a single abnormal node with elevated serum markers or positive cytologic aspirate, (b) a single enlarging node on serial studies in the absence of elevated markers, (c) multiple abnormal nodes, or (d) persistently elevated serum markers without abnormal radiologic findings. Thirty-seven patients experienced recurrence, 32 (86%) within the 1st year. Disease recurred most often in the abdomen alone (38%). CT scanning (76%) and marker estimations (68%) enabled detection of recurrent disease more often than chest radiography (22%) or lymphangiographic follow-up (13%). A strategy for follow-up based on these results is outlined.

Adult↗

PubMed1989

Significance of velocimetry as a monitor of fetal assessment and management.

Using pulsed Doppler ultrasound velocimetry, we set out to examine (a) the significance of velocimetry as a monitor of fetal management (including fetal therapy), and (b) the correlation between the occurrence of abnormal blood flow values and perinatal morbidity. We compared the incidence of abnormal values between a control group of normal pregnant women (59 cases) and an 'abnormal pregnancy' group (60 cases), composed of patients exhibiting maternal complications, IUGR, and fetal distress. The incidence of abnormal values was 23.7% in the control group and 71.7% in the abnormal group. Our results indicate clearly that velocimetry of the middle cerebral artery is the most reliable way to diagnose fetal distress. Also, when high or multiple abnormal values are detected by velocimetry, the incidence and degree of perinatal morbidity increases.

Aorta↗

PubMed1998

Effect of quinupristin/dalfopristin alone or in combination with vancomycin on the structure of Enterococcus faecium.

Twenty strains of Enterococcus faecium susceptible to quinupristin/dalfopristin (< 2 mg/l) were DNA fingerprinted to exclude strain duplication. Ten strains were susceptible to vancomycin (minimal inhibitory concentration [MIC] < 2 mg/l) and 10 were resistant to vancomycin (MIC > 400 mg/l). Vancomycin at 1/2 MIC, quinupristin/dalfopristin at 1/4 MIC and their combination, except for a tube control, was added to 10 ml trypticase soy broth tubes which were planted with the respective 24-h trypticase soy broth cultures. The products of incubation were sampled periodically throughout 24 h for gram stain and electron microscopy. Cell size was measured on photographs at 20,000x final magnification and results were statistically analyzed. The cells of all strains of Enterococcus faecium exposed for 12 h to quinupristin/dalfopristin were comparable in size to the control, Most cells, however, showed areas of low density of ribosome in the center of the cells. The cells of Enterococcus faecium resistant to vancomycin exposed to vancomycin were larger than the controls with means of 1.96 micron -2.07 micron versus 1.16 micron (p < 0.001); these cells consisted of individual organisms connected by wide cross walls of abnormal fibrous structure. Enterococcus faecium sensitive to vancomycin exposed to vancomycin remained comparable to the control. The combination of quinupristin/dalfopristin plus vancomycin produced large cells with multiple abnormal cross walls in both vancomycin-resistant and vancomycin-sensitive Enterococcus faecium. The addition of quinupristin/dalfopristin to vancomycin appears to modify the vancomycin-susceptible strains to respond to vancomycin in the same manner as do the vancomycin-resistant organisms.

Anti-Bacterial Agents↗

PubMed1991

Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study.

We describe a young man with a progressive neurological disorder including myoclonus, mental retardation, muscle weakness and a mitochondrial myopathy (myoclonus epilepsy and ragged red fibres--MERRF). Multiple abnormalities of the mitochondrial respiratory chain in skeletal muscle are shown by direct measurement of the flux through the individual complexes, low-temperature redox spectroscopy and decreased immunodetectable subunits of complexes I and IV by immunoblotting. No abnormality of mitochondrial DNA was found. This is the first report of combined defects of complexes I, III and IV as a cause of this clinical syndrome. However, we propose that the occurrence of multiple respiratory chain defects may be more common than previously recognised and that this particular combination of defects, involving complexes I, III and IV, may be the predominant biochemical abnormality in MERRF.

Adult↗

PubMed1987

Membrane handling of calcium in essential hypertension.

Several abnormalities have been described in the blood-cell handling of calcium in patients with hypertension and rats with genetic hypertension. We have suggested elsewhere that the multiple abnormalities of monovalent and divalent ion handling by blood cells in hypertension, which are loosely and variably associated with blood pressure, reflect a global variability of cell membrane lipids. In the light of this suggestion we tested the relevance of decreased membrane binding of calcium by examining basal and maximal calcium binding in hypertensive patients and in normotensive subjects with and without a family history of hypertension. Calcium binding was reduced to a similar degree in both hypertensive subjects and those with a family history of hypertension. To examine the role of membrane lipids we examined calcium binding in relation to erythrocyte membrane composition, and found a negative correlation between the palmitic:linoleic acid ratio and calcium binding. This is consistent with the observation of a reduction in the unsaturated fatty acid, linoleic acid, in the erythrocyte membrane of hypertensive subjects, and this may therefore be of functional significance. In further studies, although there was no net difference in leucocyte cytosolic calcium between essential hypertensive subjects and normotensive controls, there was a positive relationship between leucocyte calcium and membrane palmitic:linoleic acid ratio only in normotensives. To test further the role of membrane lipids in calcium handling we administered linoleic acid (4 g daily safflower seed oil) to 13 normotensive volunteers in a double-blind crossover trial. Four weeks of administration of the linoleic acid produced a significant decrease in leucocyte calcium (P less than 0.05).(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗

PubMed1997

Radiographic abnormalities in canine multicentric lymphoma: a review of 84 cases.

The thoracic and abdominal radiographs of 84 dogs with multicentric lymphoma were examined to identify the radiological abnormalities. The frequency of occurrence of individual changes, role of radiography in diagnosis, relationship of radiographic changes to hypercalcaemia and prognostic relevance of radiographic findings were assessed. Multiple abnormalities were more commonly seen than solitary changes. No radiographic abnormalities were seen in approximately one quarter of thoracic radiographs and one fifth of abdominal radiographs. Lymphoma could not be diagnosed on the basis of radiographs alone. Many of the features of lymphoma were non-specific, having numerous possible causes. Cranial mediastinal disease was neither a prerequisite for, nor a disproportionately common finding in, hypercalcaemic patients. The absence of radiological abnormalities may be a positive prognostic indicator for the individual patient. The differential diagnoses for the radiographic abnormalities seen in lymphoma are discussed.

Abdomen↗

PubMed1993

Tear of the posterior tibial tendon causing asymmetric flatfoot: radiologic findings.

OBJECTIVE: The purpose of this study was to describe the preoperative radiographic appearance of the acquired asymmetric flatfoot caused by a tear of the posterior tibial tendon. These radiographic changes reflect the loss of tendon function and the development of flatfoot deformity. SUBJECTS AND METHODS: Preoperative radiographs of 30 patients (mean age, 48 years) with surgically proved complete tears of the posterior tibial tendon were evaluated. Erect anteroposterior and lateral views of the feet were obtained in all patients and were frequently supplemented with anteroposterior views of the ankles to evaluate valgus tilt. Calcaneal plantar, talocalcaneal, and talometatarsal angles were measured on radiographs and compared with the measurements in normal control subjects. Additional osseous and soft-tissue abnormalities were also evaluated. RESULTS: Findings on preoperative radiographs of the foot were abnormal in 50% of patients. These abnormalities included decreased calcaneal plantar angle (50%), increased lateral talometatarsal angle (47%), increased anterior talocalcaneal angle (43%), and increased lateral talocalcaneal angle (13%). Bone and soft-tissue abnormalities included osteoporosis (37%), medial soft-tissue swelling (27%), tarsal osteoarthritis (20%), distal tibial proliferative changes (7%), and the presence of accessory navicular bones (17%). CONCLUSION: Multiple abnormalities of the intertarsal relationships are seen as a result of tears of the posterior tibial tendon with the development of hindfoot valgus, midfoot abduction, and forefoot pronation.

Female↗