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Biomedical subjects

R Marino

Publications and source records attributed to R Marino.

At least 19 recordsLinked to original sources
PubMed2001

Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder.

Autistic disorder (MIM 209850) is currently viewed as a neurodevelopmental disease. Reelin plays a pivotal role in the development of laminar structures including the cerebral cortex, hippocampus, cerebellum and of several brainstem nuclei. Neuroanatomical evidence is consistent with Reelin involvement in autistic disorder. In this study, we describe several polymorphisms identified using RNA-SSCP and DNA sequencing. Association and linkage were assessed comparing 95 Italian patients to 186 ethnically-matched controls, and using the transmission/disequilibrium test and haplotype-based haplotype relative risk in 172 complete trios from 165 families collected in Italy and in the USA. Both case-control and family-based analyses yield a significant association between autistic disorder and a polymorphic GGC repeat located immediately 5' of the reelin gene (RELN) ATG initiator codon, as well as with specific haplotypes formed by this polymorphism with two single-base substitutions located in a splice junction in exon 6 and within exon 50. Triplet repeats located in 5' untranslated regions (5'UTRs) are indicative of strong transcriptional regulation. Our findings suggest that longer triplet repeats in the 5'UTR of the RELN gene confer vulnerability to autistic disorder.

Adult↗
PubMed2001

[Molecular analysis of the most frequent mutations associated with congenital adrenal hyperplasia secondary to 21-hydroxylase enzyme deficiency].

Most cases (90%) of congenital adrenal hyperplasia (CAH) are secondary to steroid 21-hydroxylase enzyme deficiency (P450c21). In human, the P450c21 gene (CYP21B) is present along with a non functional pseudogene (CYP21A). These genes, located in chromosome 6, present a sequence homology of 98%. This high homology and the complexity of this gene locus brings about considerable difficulties in its molecular analysis and in the interpretation of the results. The aim of the present study was to elaborate an adequate strategy for the analysis of the most frequent mutations described in the CYP21B gene. A total of 77 patients with clinical and biochemical diagnosis of CAH secondary to P450c21 enzyme deficiency, as well as 170 unaffected relatives, were studied. They belonged to 73 unrelated families (146 chromosomes). The strategy allowed for the differentiation of patients with homozygous point mutations (PM), with PM in one allele and deletions, conversions, Ex3 or Cluster Ex6 PM in the other, even though parents were not always available for the study. Furthermore, it allowed for the discrimination of heterozygous deletions or conversions of the CYP21B gene from duplications of the non functional gene CYP21A, as well as CYP21B and A deletions from normal copies of the two genes. An exhaustive molecular analysis of this gene is necessary for an adequate characterization of the alterations present in this locus.

Adrenal Hyperplasia, Congenital↗
PubMed2001

Systematic transperineal ultrasound guided template biopsy of the prostate in patients at high risk.

PURPOSE: A negative biopsy result does not necessarily equate with cancer in specific high risk groups. We describe an alternative systematic biopsy technique for evaluating this subgroup of patients. MATERIALS AND METHODS: From March 1997 to May 1999 a total of 88 men underwent systematic ultrasound guided biopsy using the transperineal template technique. All patients had undergone at least 1 and 75 (85%) had undergone 2 or more previous sets of biopsies. In addition, study inclusion required high risk parameters, including prostate specific antigen (PSA) velocity greater than 0.75 ng./ml., PSA greater than 10 ng./ml. or previous prostatic intraepithelial neoplasia on biopsy, and/or atypical small cell acinar proliferation. RESULTS: Cancer was identified in 38 of the 88 men (43%) in this high risk subgroup undergoing repeat biopsy. A mean of 15.1 previous biopsy cores had been obtained. The most common biopsy grade was 6 (range 4 to 9). Adenocarcinoma was identified in the transition zone area in 29 of 38 cases (76%), including 15 (39%) in which disease was detected in the transition zone only. Persistent PSA acceleration greater than 0.75 ng./ml. was the major indicator for transperineal template biopsy in 83 of the 88 patients (94%). The only significant independent variable predictive of positive biopsy was prostate volume. Mean prostate volume in the positive and negative biopsy groups was 48 and 73 gm., respectively (p <0.001). Complications were rare and self-limiting, consisting primarily of hematuria and urinary retention requiring overnight catheterization in 2 patients. CONCLUSIONS: Systematic transperineal template biopsy of the prostate is a safe and precise repeat biopsy technique in patients who remain at high risk for adenocarcinoma.

Adenocarcinoma↗
PubMed2000

Causes and treatment of intracranial haemorrhage complicating shunting for paediatric hydrocephalus.

Intracranial haematomas are a well-known complication of shunting procedures for hydrocephalic patients. Most are subdural haematomas, and epidural haematomas are much less common in this setting. Their aetiology is thought to be due to an overdrainage of cerebrospinal fluid and a rapid lowering of intracranial pressure, leading to the development of these haematomas. Since the advent of modern neuroimaging techniques, prompt diagnosis of postshunting intracranial haematoma has been possible even in asymptomatic patients. The choice between surgical and nonsurgical management of postshunting intracranial haematoma is a difficult and controversial issue, especially in asymptomatic patients. Several therapeutic options have been proposed for the treatment of postshunting intracranial haematoma. Evacuation of the haematoma by conventional neurosurgical methods with the implantation of a higher pressure valve system is the most common option adopted. Intraventricular haemorrhage is occasionally reported, chiefly in children with hydrocephalus associated with vein of Galen malformation.

Cerebral Hemorrhage↗
PubMed2000

Cruciate paralysis, hypothesis for injury and recovery.

STUDY DESIGN: Case report and review of the literature. OBJECTIVES: Discuss a case of cruciate paralysis, a review of the literature and the hypotheses regarding the pathogenesis and recovery in spinal cord injuries that cause disproportionate weakness of the upper extremities. SETTING: Thomas Jefferson University Hospital, Philadelphia, PA, USA. METHODS: Case report. RESULTS: A case of cruciate paralysis is presented involving a 59-year-old female who experienced a gunshot wound to the face. Initial motor exams revealed mild lower limb weakness and absent upper limb function with an upper limb modified American Spinal Injury Association motor score of 0/50 (a modified impairment scale using half point muscle grades). Spinal imaging revealed fractures of the C1 anterior ring and the odontoid process, both associated with multiple bullet fragments. No spinal surgery was performed and she was placed in halo fixation. By 3 weeks she had regained enough upper limb function to manipulate large objects with her left hand and move her right hand. At that time, her upper limb ASIA score was 16/50. By 5 weeks, her upper limb modified ASIA motor score had improved to 31.5/50 and she began manipulating feeding utensils, writing legibly, and brushing her teeth with her left hand. CONCLUSIONS: In this case report we present a patient's motor and functional recovery. We also discuss the hypothesis that the acute central cord syndrome and cruciate paralysis are a likely result of similar pathologic mechanisms and that good functional outcome resulted from an initially disabling trauma.

Arm↗
PubMed2000

Preconquest Peruvian neurosurgeons: a study of Inca and pre-Columbian trephination and the art of medicine in ancient Peru.

Trephination and craniotomy performed by abrasion, scraping, crosscut sawing, and drilling are the oldest known surgical techniques used by primitive peoples. As a result of archaeological findings, the human skull is the most frequently studied part of the excavated body, leading to the creation of a new aspect of anthropology known as "cultural osteology." Found in ancient tombs, the human remains, mummies, skeletons, and their belongings, including war instruments, pottery, clothing, jewels, and surgical instruments, constitute the richest source of insight into the lives and pragmatic activities of ancient cultures. This study summarizes thousands of years of pre-Columbian history and medical evolution, specifically in the early and primitive practice of trephination, as precursors of neurosurgery. Comparative osteology studies have demonstrated that using primitive stone or metal instruments, the sirkaks (Inca surgeons) achieved an average survival rate of 50 to 70% of their craniectomy patients, with little incidence of infection or other complications. Despite their rudimentary knowledge of disease and pathology, a considerable knowledge of anatomy and natural medicine provided them with hemostatic agents, antiseptics, and other medical drugs, such as quinine for fever and malaria, as well as gold, silver, and other products to perform cranioplasties. Living in a world of continuous hand-to-hand combat, they also developed aggressive and defensive weapons that necessitated refinement of surgical techniques to save soldiers from battle wounds to their poorly protected crania.

History, Ancient↗
PubMed2000

Gluten sensitivity in monozygous twins: a long-term follow-up of five pairs.

OBJECTIVE: The aim of this study was to investigate the role of genetic factors and the characteristics of five monozygous twin pairs with at least one member affected by gluten sensitivity. METHODS: Five pairs of monozygous female twins, of whom one or both were affected by gluten sensitivity (i.e., celiac disease or dermatitis herpetiformis), were followed-up for 11-23 yr. RESULTS: Three pairs were concordant for celiac disease: the onset was comparable and synchronous in two pairs; in the third, one member presented an overt malabsorption syndrome, and the other developed iron deficiency anemia 10 yr later. Discordance for gluten sensitivity was found in the remaining two pairs, one of whose members was diagnosed as having, respectively, celiac disease and dermatitis herpetiformis. CONCLUSIONS: As no environmental factors were found to affect the phenotypic expression of the disease, genetic factors seem to play a major role. The presence of overt or latent celiac disease in three of the four siblings of the three concordant twins, and the association with cystic fibrosis in all three siblings of one of these families, further supports this hypothesis.

Adult↗
PubMed2000

Alopecia areata and coeliac disease: no effect of a gluten-free diet on hair growth.

BACKGROUND: An association between alopecia areata (AA) and coeliac disease has recently been reported. AIM: The aim of this paper was to evaluate the possible effect of a gluten-free diet (GFD) on the new growth of hair in 5 alopecic patients with CD. METHODS: CD was diagnosed in 5 patients with AA (universalis in 3 cases and patchy in 2 cases). The diagnosis of CD was based on serological and histological standard criteria. RESULTS: In all patients the GFD resolved CD clinically, serologically and histologically but had no effect on the course of alopecia. CONCLUSION: AA and CD, when associated, present different responses to a GFD and have an independent course.

Adult↗
PubMed2000

Beneficial effects of postmenopausal hormone replacement therapy with transdermal estradiol on sensitivity to activated protein C.

Many hemostatic and fibrinolytic parameters have been evaluated following hormone replacement therapy (HRT) but little is known about its influence on the anticoagulant response to activated protein C (APC-sensitivity). For this purpose, we studied the effect of transdermal 17-beta-estradiol (50 microg/24 h) by a continuous regimen on the APC-sensitivity, in 28 postmenopausal hysterectomized women (mean age, 47 years; range, 44-65 years). We also measured the plasma proteins directly involved in the protein C anticoagulant pathway, such as activities of factor VIII (VIII:C), factor V and free protein S. Von Willebrand factor (vWF) antigen, the carrier protein of factor VIII, was also determined. Blood sampling was done at baseline and after 16-week therapy. A significant increase in the normalized APC-sensitivity ratio (n-APC-SR) values (mean +/- SD: pre-trial, 0.88 +/- 0.14; post-trial, 1.01 +/- 0.12; P < 0.001) and a significant decrease of factor VIII:C plasma levels (pre-trial, 1.13 +/- 0.29 IU/ml; post-trial, 0.98 +/- 0.20 IU/ ml; P = 0.001) were found. No difference was observed in factor V, protein S and vWF plasma levels. Correlation studies demonstrated only a significant negative correlation between the percent change in n-APC-SR and the percent change in factor VIII:C (r = -0.574; P = 0.001). Our findings clearly show that HRT with transdermal estradiol improves the anticoagulant response to APC, probably as a result of a decreased factor VIII:C. We also suggest that a similar but opposite mechanism may occur for perorally administered estrogens used in the HRT. These results may have some clinical implications about the reported increase of the risk for venous thromboembolism following HRT.

Activated Protein C Resistance↗
PubMed1999

Follicle cell proteasome activity and acid extract from the egg vitelline coat prompt the onset of self-sterility in Ciona intestinalis oocytes.

In the hermaphrodite ascidian Ciona intestinalis, the egg vitelline coat (VC) controls gamete self-nonself discrimination. Oocytes, after germinal vesicle breakdown, can be fertilized by both self and nonself sperm. However, a barrier to fertilization by self sperm progressively develops in the VC in the 3 hours after germinal vesicle breakdown. During this period, follicle cells attached to the outer surface of the VC release self-sterility factors that bind to the VC. Within the follicle cells, these factors (possibly peptides) are thought to be shuttled to the cell membrane by an hsp70 homolog (Cihsp70). In fact, antibodies to hsp70 block the development of self-sterility. Proteasomes are central to the production of antigen peptides. Specific inhibition of proteasome activity with clasto-lactacystin beta-lactone (CLbetaL) prevented the onset of self-sterility, but had no effect once this process had started. CLbetaL did not block fertilization by nonself sperm. The self-sterility factors were removed from mature oocytes by exposure to acidified media, and their biological activity was transferred to immature oocytes treated with CLbetaL. The obvious high multiplicity of self-nonself recognition alleles involved in fertilization, and the involvement of an hsp70 and a proteasome in processing self-sterility factors, suggests that this system may be evolutionarily related to the vertebrate immune system.

Acids↗
PubMed1999

Plasma plasminogen activator inhibitor-I is associated with plasma leptin irrespective of body mass index, body fat mass, and plasma insulin and metabolic parameters in premenopausal women.

Leptin, the satiety hormone expressed almost exclusively in adipose tissue, is a marker of body fat accumulation in humans. Recent studies have shown that plasminogen activator inhibitor-1 (PAI-1), a prothrombotic factor associated with atherosclerosis complications, is also produced in adipose tissue. The objective of the present study was to determine whether PAI-1 antigen plasma concentrations are associated with leptin plasma levels or the body fat mass (FM) independently of the variables known to influence PAI-1 production. Sixty-one nondiabetic women aged 18 to 45 years with a wide range of values for the body mass index ([BMI] 18.1 to 37.7 kg/m2) were evaluated for (1) body FM and fasting plasma levels of (2) PAI-1 antigen, (3) PAI-1 activity, (4) leptin, (5) insulin, (6) blood glucose, and (7) lipids (cholesterol, high-density lipoprotein [HDL]-cholesterol, and triglycerides [TG]). Body FM and fat-free mass (FFM) were estimated during fasting conditions by the bioimpedance analysis (BIA) method using a tetrapolar device. Body fat distribution was evaluated by the waist circumference and the waist to hip ratio (WHR). FM was directly associated with both PAI-1 antigen (r = .585, P < .001) and PAI-1 activity (r = .339, P < .001). Seemingly, leptin was positively related to both PAI-1 antigen (r = .630, P < .001) and PAI-1 activity (r = .497, P < .001). Moreover, both PAI-I antigen and PAI-1 activity were directly correlated with FFM (r = .285, P < .05, and r = .336, P < .01, respectively), BMI (r = .594, P < .001, and r = .458, P < .001, respectively), and WHR (r = .510, P < .001, and r = .391, P < .005, respectively). Insulin was directly related to PAI-1 antigen (r = .540, P < .001), PAI-1 activity (r = .259, P < .05), leptin (r = .447, P < .001), and FM (r = .435, P < .001). The association between PAI-1 antigen (dependent variable) and leptin or FM was tested by a stepwise regression model simultaneously including leptin, FM, BMI, WHR, age, FFM, and fasting insulin, blood glucose, TG, cholesterol, and HDL-cholesterol as independent variables. PAI-1 antigen maintained a significant positive independent relationship only with leptin (t = 2.923, P < .01), insulin (t = 3.489, P < .001), and fasting blood glucose (t = 2.092, P < .05), and a negative independent relationship with HDL-cholesterol (t = -2.634, P < .05). In conclusion, the strong relationship between PAI-1 antigen and leptin irrespective of other variables known to influence these factors seems to indicate that leptin per se may potentially increase PAI-1 plasma concentrations in obese subjects.

Adipose Tissue↗
PubMed1999

Prevalence of hepatitis viruses in an anti-human immunodeficiency virus-positive population from Argentina. A multicentre study.

The objectives of this study were to investigate the prevalence of infections with hepatotrophic viruses in an anti-human immunodeficiency virus (HIV)-positive population from Buenos Aires and to compare it among the main risk groups for HIV infection. Four hundred and eighty-four consecutive patients attending the HIV outpatients clinic were studied: 359 men and 125 women, median age 29 years (range 16-67 years); 35.5% had presented acquired immune deficiency syndrome (AIDS)-defining conditions. Two hundred and thirty-four patients were intravenous drug users (IVDU), 99 had homosexual and 142 heterosexual preference, seven had received blood transfusions and two had no risk factors. Hepatitis B surface antigen (HBsAg), and antibodies to hepatitis B core antigen (HBcAb) and to hepatitis C virus (anti-HCV) were investigated in all patients; antibodies to HBsAg (HBsAb) and IgG antibodies to hepatitis D virus (anti-HDV) in all HBcAb-positive patients; hepatitis B e antigen and antibodies to HBeAg (HBeAg) in all HBsAg-positive patients; IgG antibodies to hepatitis A virus (anti-HAV) in the first 307 patients; and IgG antibodies to hepatitis E virus (anti-HEV) in the first 91 patients. As control groups, contemporary voluntary blood donors were studied for prevalence of HAV, HBV, HCV and HEV. The percentages of HBcAb, HBsAg, anti-HCV and anti-HEV (58.5, 14.5, 58.5 and 6.6%, respectively) were significantly higher in anti-HIV-positive patients than in control groups (3.2, 0.5, 1.0 and 1.8%, respectively) (P = 0.000). The prevalence of HBcAb was significantly higher in IVDU (72.6%) than in heterosexuals (33.8%) (P = 0.0001) and in homosexuals (59.6%) (P = 0.0189). The percentage of HBsAg was significantly higher in IVDU (19.2%) than in heterosexuals (6.3%) (P = 0.0004). Anti-HCV was significantly higher in IVDU (92.3%) than in homosexuals (14.1%) and in heterosexuals (33.1%) (P = 0.000 in both cases). The prevalence of anti-HDV was relatively low (1.9%). There was no difference in the percentage of anti-HAV between HIV-positive and negative subjects. In conclusion, there is a high prevalence of HBV and HCV infections in HIV-positive patients from our area. Drug use is the main route of transmission, but prevalence of HCV in patients with, probably, sexually acquired HIV infection is also higher than in the control group. The increased prevalence of HEV infection in HIV-positive individuals is another provocative finding that warrants further study.

Adolescent↗
PubMed1999

Treatment with recombinant activated factor VII in a patient with hemophilia A and an inhibitor: advantages of administration by continuous infusion over bolus intermittent injections.

Recent studies have shown that treatment with a continuous infusion of recombinant activated factor VII (rFVIIa) is far more convenient than administration by bolus intermittent injections and may allow a substantial reduction in the dose. We present the case of a 26-year-old patient with hemophilia A, who had a high-titer inhibitor to both human and porcine factor VIII, and who had recently been admitted to hospital because of a bilateral severe ilio-psoas hematoma. Two subsequent courses of treatment with rFVIIa by bolus intermittent injection showed only a partial efficacy. A further administration of rFVIIa was therefore carried out using a continuous infusion regimen that proved to be fully efficacious. During the continuous infusion course levels of factor VII coagulant activity were in the range 18.2-5.2 U/ml, while the prothrombin time, expressed as an International Normalized Ratio, remained within the range 0.57-0.71. The continuous infusion, compared with the administration of the bolus intermittent infusion, reduced the amount of rFVIIa required by approximately 40-50%. Statistical analysis demonstrated that there was a strong positive correlation between the rate of infusion of rFVIIa and levels of factor VII coagulant activity (r = +0.941; P < 0.001), and a very significant negative correlation between levels of factor VII coagulant activity and prothrombin time values (r = -0.897; P < 0.001). In accordance with previous findings, our experience confirms that, when prolonged therapy is required, treatment with rFVIIa by continuous infusion is more convenient than administration of bolus intermittent injections, and may allow the saving of a large amount of drug. Moreover, we suggest potential additional advantages of the continuous infusion regimen over bolus intermittent injections, such as a better efficacy and a stronger correlation between prothrombin time and factor VII coagulant activity levels.

Adult↗
PubMed1999

Microsurgical anatomy of the temporal lobe: part 1: mesial temporal lobe anatomy and its vascular relationships as applied to amygdalohippocampectomy.

OBJECTIVE: We review the anatomy of the mesial temporal lobe region, establishing the relationships among the intraventricular, extraventricular, and surrounding vascular structures and their angiographic characterization. We also demonstrate the clinical application of these anatomic landmarks in an anatomic temporal lobectomy plus amygdalohippocampectomy. METHODS: Fifty-two adult cadaveric hemispheres and 12 adult cadaveric heads were studied, using a magnification ranging from 3x to 40x, after perfusion of the arteries and veins with colored latex. RESULTS: The intraventricular elements are the hippocampus, fimbria, amygdala, and choroidal fissure; the extraventricular elements are the uncus and parahippocampal and dentate gyri. The uncus has an anterior segment, an apex, and a posterior segment that has an inferior and a posteromedial surface; the uncus is related medially to cisternal elements and laterally to intraventricular elements. The anterior segment is related to the proximal sylvian fissure, internal carotid artery, proximal M1 segment of the middle cerebral artery, proximal cisternal anterior choroidal artery, and amygdala. The apex is related to the oculomotor nerve, uncal recess, and amygdala; the posteromedial surface is related to the P2A segment of the posterior cerebral artery inferiorly, to the distal cisternal anterior choroidal artery superiorly, and to the head of the hippocampus and amygdala intraventricularly. The choroidal fissure is located between the thalamus and fimbria; it begins at the inferior choroidal point behind the head of the hippocampus and constitutes the medial wall of the posterior two-thirds of the temporal horn. CONCLUSION: Not only is the knowledge of these relations useful to angiographically characterize the mesial temporal region, but it has also proven to be of extreme value during microsurgeries involving this region.

Adult↗
PubMed1999

Influence of factor VIII/von Willebrand complex on the activated protein C-resistance phenotype and on the risk for venous thromboembolism in heterozygous carriers of the factor V Leiden mutation.

High factor VIII plasma levels have been shown to represent a common increased risk for venous thromboembolism (VTE) and may cause an activated protein C (APC) resistance in the absence of the factor V Leiden mutation, but there are no studies specifically aimed to establish if high factor VIII and von Willebrand factor (vWF) concentrations may influence the APC sensitivity ratio (APC-SR) and increase the risk for VTE in the presence of the factor V Leiden mutation. For this purpose, we performed a retrospective case-control study to investigate the influence of the procoagulant factor VIII (VIII:C) and the antigen of vWF (vWF:Ag) on the normalized APC-SR (n-APC-SR) and on the risk for VTE, in two selected groups of 30 symptomatic (Group I) and 32 asymptomatic (Group II) related heterozygotes for the factor V Leiden mutation. Differences between the two groups (Group I versus Group II) were: n-APC-SR, 0.57+/-0.06 versus 0.63+/-0.08, P = 0.001; factor VIII:C, 1.49+/-0.42 versus 1.13+/-0.28 IU/ml, P<0.001; vWF:Ag, 1.46+/-0.53 versus 1.26+/-0.32 IU/ml, NS. As a whole (Group I + Group II), Pearson correlation coefficients were: n-APC-SR versus factor VIII:C, r = -0.410, P = 0.001; n-APC-SR versus vWF:Ag, r = -0.309, P = 0.01; factor VIII:C versus vWF:Ag, r = +0.640, P<0.0001. The relative risk for VTE in individuals with the factor VIII:C concentration > 1.5 IU/ml was 2.5 (95% confidence interval 1.6-3.9). We concluded that high factor VIII:C levels, probably in the effect of vWF, play a determinant role in worsening the APC-resistance phenotype and represent a common additional risk factor for VTE in heterozygous carriers of the factor V Leiden mutation.

Adult↗
PubMed1999

Oral health in children and adolescents with IDDM--a review.

Children with insulin-dependent diabetes mellitus have a lower salivary flow rate, pH and buffer capacity, but a higher glucose content and peroxidase, IgA, magnesium and calcium concentration, in comparison with healthy children. Nevertheless the incidence of caries is lower than normal in diabetic children with good metabolic control. Periodontal disease usually starts at puberty as mild gingivitis with bleeding and gingival recession, and it may develop into severe periodontitis, especially in children with poor control of diabetes. Microangiopathy, impaired immune response, different bacterial microflora and collagen metabolism are involved in the pathogenesis of diabetic periodontal disease. The gingival flora is mostly composed of Gram-negative, anaerobic bacteria, while collagen has a lower solubility and is atrophic and inadequate to support the occlusion forces. For these reasons, prevention of periodontitis is important in diabetic children; they should receive oral hygiene instruction and visit a dentist at least twice a year.

Adolescent↗