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1.
Cureus ; 15(9): e45837, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37750063

ABSTRACT

Sarcoidosis is a multisystemic, noncaseating granulomatous disease of unknown etiology. Neurosarcoidosis (NS) is the involvement of the central nervous system (CNS) in sarcoidosis, and it occurs in approximately 5%-10% of cases. NS can present with a variety of clinical features, making diagnosis challenging. A comprehensive diagnostic approach is required to obtain a definitive diagnosis. In this case we present a 13-year-old boy with diabetes mellitus presented with acute right-sided weakness, paresthesia, headaches, and episodes of loss of consciousness, followed by confusion and aggressive behavior. Neurological examination revealed right-sided motor and sensory deficits, as well as abnormal reflexes. Cranial imaging revealed a solitary lesion in the left centrum semi-ovale. Cerebrospinal fluid (CSF) analysis showed lymphoblastic leukocytosis, increased CSF angiotensin-converting enzyme (ACE), and a high IgG index. Extensive laboratory and imaging studies ruled out other potential etiologies. This case presented with a unique set of clinical features, including a mass lesion effect and seizures, which are uncommon in isolated NS. The patient responded well to high-dose corticosteroid therapy, with resolution of his symptoms. Levetiracetam was used to effectively manage his seizures.

3.
Br J Dermatol ; 179(6): 1368-1375, 2018 12.
Article in English | MEDLINE | ID: mdl-29701240

ABSTRACT

BACKGROUND: Our earlier study, published in 2004,found no skin cancer in a cohort of paediatric organ transplant recipients (POTRs) 5-16 years post-transplantation. We re-evaluated the same cohort 10 years later. OBJECTIVES: To determine the prevalence of premalignant and malignant skin lesions and identify known risk factors associated with melanocytic naevi in a U.K. paediatric transplant population. METHODS: Ninety-eight POTRs from the original 2004 study were invited to participate in this longitudinal follow-up study. History of sun exposure, demographics and transplantation details were collected using face-to-face interviews, questionnaires and case note reviews. Skin examination was performed for regional count of malignant lesions, benign and atypical naevi. RESULTS: Of the 98 patients involved in the initial study, 45 POTRs (eight kidney, 37 liver), with a median follow-up of 19 years (range 15-26 years), agreed to participate. Neither skin cancer nor premalignant lesions were detected in these patients. When compared with the 2004 cohort, 41 patients in our current cohort had increased numbers of benign naevi (P < 0·001) with 11 patients having ≥ 50 benign naevi. Seventy-one per cent of benign naevi in our 2014 cohort occurred on sun-exposed sites (13% head/neck, 35% arms and 23% legs). Patients who regularly used sunscreen had more benign naevi on their arms (P = 0·008). CONCLUSIONS: Although skin cancer was not observed in our cohort, we identified a significant increase in the number of benign naevi, particularly in those reporting frequent sunburn and sunscreen use.


Subject(s)
Immunocompromised Host , Nevus, Pigmented/epidemiology , Organ Transplantation/adverse effects , Skin Neoplasms/epidemiology , Transplant Recipients/statistics & numerical data , Adolescent , Adult , Child , Child, Preschool , Female , Follow-Up Studies , Graft Rejection/immunology , Graft Rejection/prevention & control , Humans , Immunosuppression Therapy/adverse effects , Infant , Longitudinal Studies , Male , Nevus, Pigmented/etiology , Pilot Projects , Prevalence , Risk Factors , Skin Neoplasms/etiology , Sunburn/epidemiology , Sunlight/adverse effects , Sunscreening Agents/administration & dosage , Sunscreening Agents/adverse effects , United Kingdom/epidemiology , Young Adult
4.
J Cardiothorac Surg ; 6: 82, 2011 Jun 10.
Article in English | MEDLINE | ID: mdl-21663646

ABSTRACT

OBJECTIVES: Endothelial injury during harvest influences graft patency post CABG. We have previously shown that endoscopic harvest causes structural and functional damage to the saphenous vein (SV) endothelium. However, causes of such injury may depend on the extraction technique. In order to assess this supposition, we evaluated the effect of VirtuoSaph endoscopic SV harvesting technique (VsEVH) on structural and functional viability of SV endothelium using multiphoton imaging, biochemical and immunofluorescence assays. METHODS: Nineteen patients scheduled for CABG were prospectively identified. Each underwent VsEVH for one portion and "No-touch" open SV harvesting (OSVH) for another portion of the SV. A two cm segment from each portion was immersed in GALA conduit preservation solution and transported overnight to our lab for processing. The segments were labeled with fluorescent markers to quantify cell viability, calcium mobilization and generation of nitric oxide. Morphology, expression, localization and stability of endothelial caveolin, eNOS, von Willebrand factor and cadherin were evaluated using immunofluorescence, Western blot and multiphoton microscopy (MPM). RESULTS: Morphological, biochemical and immunofluorescence parameters of viability, structure and function were well preserved in VsEVH group as in OSVH group. However, tonic eNOS activity, agonist-dependent calcium mobilization and nitric oxide production were partially attenuated in the VsEVH group. CONCLUSIONS: This study indicates that VirtuoSaph endoscopic SV harvesting technique preserves the structural and functional viability of SV endothelium, but may differentially attenuate the vasomotor function of the saphenous vein graft.


Subject(s)
Angioscopy/methods , Coronary Artery Bypass/methods , Endothelium, Vascular/physiology , Saphenous Vein/transplantation , Tissue and Organ Harvesting/methods , Aged , Aged, 80 and over , Blotting, Western , Calcium/metabolism , Cell Survival , Coronary Artery Disease/surgery , Elective Surgical Procedures , Endothelial Cells/metabolism , Endothelial Cells/ultrastructure , Endothelium, Vascular/cytology , Esterases/metabolism , Follow-Up Studies , Humans , Intracellular Fluid/metabolism , Microscopy, Fluorescence, Multiphoton/methods , Middle Aged , Nitric Oxide/biosynthesis , Prospective Studies , Saphenous Vein/cytology , Saphenous Vein/physiopathology
5.
Br J Dermatol ; 164(1): 103-9, 2011 Jan.
Article in English | MEDLINE | ID: mdl-20874856

ABSTRACT

BACKGROUND: Male erectile dysfunction (ED) is common, frequently caused by pelvic arterial atherosclerosis, and is a predictor of future cardiovascular disease. There is an emerging association between psoriasis, the metabolic syndrome and atherosclerotic disease. We hypothesized that ED occurs more commonly in patients with psoriasis, at least in part due to incipient atherosclerosis, which may offer an opportunity for early intervention. OBJECTIVES: To determine the prevalence of, and risk factors for, ED in patients with psoriasis in comparison with a heterogeneous dermatology outpatient control group. METHODS: We conducted a pilot study with a prospective observational cross-sectional design, recruiting consecutive adult male dermatology outpatients diagnosed with psoriasis or any other skin condition. Sexually active participants completed a questionnaire, a Dermatology Life Quality Index and the validated five-item version of the International Index of Erectile Function (IIEF-5). RESULTS: Fifty-three of 92 (58%) patients with psoriasis recorded an IIEF-5 score indicative of ED, compared with 64 of 130 (49%) control patients, reflecting an age-adjusted odds ratio of 2·007 (95% confidence interval 1·088-3·701; P = 0·026). A multivariable logistic regression model indicated that increasing age and hypertension, but not a diagnosis of psoriasis, were independent risk factors for ED in our study population. CONCLUSIONS: We present the largest survey of ED in patients with skin disease, and the first to posit the potential link between psoriasis, ED and atherosclerosis. We suggest that an assessment of sexual function should be part of the routine holistic care provided for dermatology outpatients, and highlight the need to screen for cardiovascular risk factors in those with documented ED.


Subject(s)
Erectile Dysfunction/etiology , Psoriasis/complications , Adult , Atherosclerosis/complications , Cross-Sectional Studies , Erectile Dysfunction/diagnosis , Erectile Dysfunction/epidemiology , Humans , Male , Middle Aged , Pilot Projects , Prevalence , Prospective Studies , Quality of Life , Risk Factors , Severity of Illness Index , Surveys and Questionnaires
6.
J Surg Res ; 168(1): e7-15, 2011 Jun 01.
Article in English | MEDLINE | ID: mdl-20421111

ABSTRACT

BACKGROUND: Utilization of thromboresistant circuits in cardiopulmonary bypass (CPB) surgery has been controversial. However, due to the advantages associated with these types of circuits, we sought to evaluate the efficacy of use of low-dose heparin in conjunction with thromboresistant surfaces, closed perfusion system, elimination of blood-gas interface, maintenance of hematocrit to >25%, and systemic normothermia, with respect to the conventional strategy of non-thromboresistant open circuits with high-dose heparin, during 3 h of CPB in an animal model. METHODS: Using an open-chest swine model, animals were placed on CPB for 3 h with additional monitoring for 1 h post-CPB. Pigs were randomized into either a heparin-bonded circuit (HBC) group (n = 10) or a non-HBC (NHB) group (n = 10). Hemodynamic, hematologic, and biochemical parameters and multiphoton microscopy were used to compare the two groups. RESULTS: Pigs in the HBC group showed a 38.4% reduction in post-CPB blood loss in comparison with the NHB group (P = 0.0007). Additionally, compared with the HBC group, the NHB group exhibited a 32.7% post-CPB reduction in platelets (P < 0.001) and significant increases in alkaline phosphatase, aspartate aminotransferase, and creatine phosphokinase enzymes (P < 0.0202, P = 0.0015, P < 0.0001; respectively). Multiphoton imaging of the arterial filters revealed no entrapment of RBC, WBC, and platelets in the HBC group, while the filters in the NHB group were clogged by these cells. CONCLUSION: Utilization of modified perfusion strategy employing low-dose heparin and closed thromboresistant circuits is successful in ameliorating the potential adverse hematologic and pro-inflammatory elements induced with open perfusion system of non-thromboresistant circuits most commonly used in cardiac surgery.


Subject(s)
Cardiopulmonary Bypass/methods , Perfusion/methods , Thrombosis/prevention & control , Thrombosis/physiopathology , Animals , Anticoagulants/therapeutic use , Cardiopulmonary Bypass/adverse effects , Dose-Response Relationship, Drug , Hematocrit , Hemodynamics , Heparin/therapeutic use , Models, Animal , Postoperative Hemorrhage , Protamines/therapeutic use , Swine , Thrombosis/blood
7.
J Thorac Cardiovasc Surg ; 141(3): 782-8, 2011 Mar.
Article in English | MEDLINE | ID: mdl-21146837

ABSTRACT

OBJECTIVE: Numerous studies have shown that, when using conventional perfusion methodology, patients undergoing coronary artery bypass grafting within 7 days of receiving clopidogrel are at increased risk of bleeding, re-exploration, and blood transfusion. The purpose of this study was to evaluate the effect of clopidogrel administration before coronary artery bypass grafting on patients using thromboresistant surfaces with low-dose heparin during surgical intervention. METHODS: Patients who underwent isolated coronary artery bypass grafting between 2005 and 2009 were incorporated in this retrospective study. Of these, 52 (22.2%) received clopidogrel within 5 days before the operation, and 182 (77.8%) did not. Regression models determined the effect of clopidogrel on the rate of chest re-exploration because of bleeding, 24-hour chest tube output, perioperative blood product transfusion, length of stay, morbidity, and perioperative mortality. Hemorrhage-related preoperative risk factors, as well as those found to be significant in univariate models, were included in the multivariate model. RESULTS: Chest tube drainage was significantly increased during the first 24 hours after the operation in the clopidogrel group (679.7 ± 305.8 vs 516.6 ± 209.8 mL, P = .0007). The need for intraoperative blood product transfusion was similar; nevertheless, more patients receiving clopidogrel required fresh frozen plasma postoperatively (7.7% vs 1.1%, P = .0232). However, risk-adjusted logistic regression showed that exposure to clopidogrel was not a predictor of intraoperative or postoperative blood product transfusion. Lengths of stay in the intensive care unit and hospital were shorter in patients receiving clopidogrel. CONCLUSIONS: Hemostatic complications related to clopidogrel exposure within 5 days before an isolated coronary artery bypass grafting operation can be alleviated by the application of a biocompatible perfusion strategy using low-dose heparin in conjunction with a closed thromboresistant circuit.


Subject(s)
Anticoagulants/administration & dosage , Biocompatible Materials , Blood Loss, Surgical/prevention & control , Coronary Artery Bypass/instrumentation , Heparin/administration & dosage , Platelet Aggregation Inhibitors/adverse effects , Postoperative Hemorrhage/prevention & control , Thrombosis/prevention & control , Ticlopidine/analogs & derivatives , Aged , Blood Transfusion , Boston , Chest Tubes , Chi-Square Distribution , Clopidogrel , Coronary Artery Bypass/adverse effects , Drainage/instrumentation , Drug Administration Schedule , Equipment Design , Female , Humans , Length of Stay , Logistic Models , Male , Middle Aged , Platelet Aggregation Inhibitors/administration & dosage , Postoperative Hemorrhage/chemically induced , Retrospective Studies , Risk Assessment , Risk Factors , Thrombosis/etiology , Ticlopidine/administration & dosage , Ticlopidine/adverse effects , Time Factors , Treatment Outcome
8.
Perfusion ; 24(5): 317-23, 2009 Sep.
Article in English | MEDLINE | ID: mdl-19965951

ABSTRACT

BACKGROUND: Biocompatible surfaces play an important role in the inflammatory response during cardiopulmonary bypass (CBP), with the arterial filter contributing a large surface area of the circuit. Different filter-coating materials designed to improve blood-filter biocompatibility are currently used in CPB circuits. This study evaluates eight biocompatible coatings used for arterial filters and their effects on blood components during circulation. METHODS: Arterial filters were randomly assigned in eight independent heparin-bonded tubing loops and perfused by a single swine (n=8). Arterial blood was routed simultaneously, but separately, into each circuit and circulated for 30 minutes at 37 degrees C. Blood samples were drawn for CBC, ACT, and TAT III measurements at baseline, post-heparinization and post-circulation. At study completion, filters were imaged using multiphoton microscopy. RESULTS: RBC, platelet, and WBC counts, and TAT III complex were all decreased after 30 minutes of circulation; however, WBC count was the only parameter that showed statistically significant differences between the filters. Circulating WBC reduction ranged from 6% (Carmeda and Trillium) to 41% (Terumo-X-coating) with corresponding microscopic confirmation of increased WBC entrapment. CONCLUSION: All eight filter coatings altered the blood components to varying degrees. Selection of the most effective filter, in conjunction with a heparin-bonded circuit for CPB, may decrease the intraoperative foreign-surface activation of blood cells.


Subject(s)
Cardiopulmonary Bypass , Coated Materials, Biocompatible/chemistry , Extracorporeal Circulation , Filtration , Heparin/chemistry , Animals , Male , Models, Animal , Surface Properties , Swine
9.
Circulation ; 120(17): 1704-13, 2009 Oct 27.
Article in English | MEDLINE | ID: mdl-19822811

ABSTRACT

BACKGROUND: Injury to myocytes, endocardium, and the coronary endothelium during harvesting and storage can compromise outcomes after heart transplantation. Safeguarding of structure and function of cardiomyocytes and endothelium in donor hearts may lead to improved patient survival after transplantation. Information gained from porcine hearts stored in standard transplant solution was used to design a superior preservation solution that would optimally protect and maintain organs from beating heart and/or nonbeating heart donors during long-term storage. METHODS AND RESULTS: Multiphoton microscopy was used to image deep within cardiac biopsies and coronary artery tissue harvested from porcine hearts obtained from beating heart and nonbeating heart donors for analysis of myocyte and endothelial cell structure and function. Cell structural integrity and viability, calcium mobilization, and nitric oxide generation were determined with fluorescence viability markers, immunofluorescence, and Western blots. During hypothermic storage in standard preservation solution, Celsior, myocyte, and endothelial viability was markedly attenuated in hearts obtained from beating heart donors. In contrast, hearts from beating and nonbeating heart donors stored in the newly formulated Somah solution demonstrated an increase in high-energy phosphate levels, protection of cardiac myocyte viability, mitochondrial membrane polarization, and structural proteins. Similarly, coronary artery endothelial organization and function, calcium mobilization, and nitric oxide generation were well maintained during temporal storage in Somah. CONCLUSIONS: The Celsior preservation solution in clinical use today has led to a profound decline in cardiomyocyte and endothelial cell viability, whereas the newly designed Somah solution has safeguarded myocyte and endothelial integrity and function during organ storage. Use of Somah as a storage medium may lead to optimized graft function and long-term patient survival after transplantation.


Subject(s)
Heart , Organ Preservation Solutions/chemistry , Organ Preservation Solutions/pharmacology , Organ Preservation/methods , Tissue and Organ Procurement/methods , Animals , Drug Evaluation/methods , Female , Heart/drug effects , Heart/physiology , Heart Transplantation/methods , Heart Transplantation/standards , Myocytes, Cardiac/cytology , Myocytes, Cardiac/drug effects , Myocytes, Cardiac/physiology , Organ Preservation/standards , Organ Preservation Solutions/standards , Swine , Tissue and Organ Procurement/standards
11.
Occup Environ Med ; 61(8): 715-6, 2004 Aug.
Article in English | MEDLINE | ID: mdl-15258281

ABSTRACT

AIMS: To measure accurately urinary elimination half life of trichloroacetic acid (TCAA). METHODS: A longitudinal pilot exposure/intervention study measured the elimination half life of TCAA in urine. Beverage consumption was limited to a public water supply and bottled water of known TCAA concentration, and ingestion volume was managed. The five participants limited fluid consumption to only the water provided. Consumption journals were kept by each participant and their daily first morning urine (FMU) samples were analysed for TCAA and creatinine. TCAA elimination half life curves were generated from a two week washout period using TCAA-free bottled water. RESULTS: Individual elimination half lives ranged from 2.1 to 6.3 days, for single compartment exponential decay, the model which fit the data. CONCLUSION: Urinary TCAA is persistent enough to be viable as a biomarker of medium term (days) exposure to drinking water TCAA ingestion within a range of realistic concentrations.


Subject(s)
Caustics/analysis , Drinking , Trichloroacetic Acid/urine , Water Intoxication/urine , Adult , Biomarkers/analysis , Biomarkers/urine , Chlorine , Disinfection , Environmental Exposure/adverse effects , Female , Half-Life , Humans , Longitudinal Studies , Male , Middle Aged , Pilot Projects
12.
Saudi Med J ; 23(6): 651-7, 2002 Jun.
Article in English | MEDLINE | ID: mdl-12070541

ABSTRACT

OBJECTIVE: To evaluate the relative importance of thyroid hormones and human chorionic gonadotropin in relation to the risk of gestational thyrotoxicosis in Saudi women living in Jeddah, Kingdom of Saudi Arabia. METHODS: A prospective study was conducted on Saudi healthy pregnant women (N=406) at 12-15 weeks of gestation and compared with healthy non-pregnant controls (N=200). Maternal serum levels of free thyroxine free triiodothyronine, thyrotropin, human chorionic gonadotropin and free b-human chorionic gonadotropin together with urinary iodine excretion were determined. Analysis of variance was used to examine differences among the groups for different variables and the Bonferroni criterion was used when significance tests were made. RESULTS: Pregnant women were classified into 2 groups according to the lower limit of serum thyrotropin levels in non-pregnant euthyroid controls at >= 0.3 mIU/L (Group one) or < 0.30 mIU/L (Group 2). Suppressed levels of serum thyrotropin (< 0.30 mIU/L) were found in 11.1% of pregnant women which was accompanied by significant increases in free thyroxine (P<0.001), free triiodothyronine (P < 0.05), human chorionic gonadotropin (P<0.001) and b-human chorionic gonadotropin (P<0.001). A significant negative correlation between serum levels of thyrotropin and that of human chorionic gonadotropin (r=-0.381, P<0.001) was observed. The relative risk of having a serum thyrotropin level of < 0.30 mIU/L was 4.89 (P<0.001) for the pregnant women examined as compared with non-pregnant controls. Approximately 5.6% of the women examined exhibited biochemical evidence of thyrotoxicosis. CONCLUSION: The results of the present study show that Saudi pregnant women are at risk of developing biochemical evidence of thyrotoxicosis during early gestation, and thus, are likely to be at greater risk of clinically evident gestational thyrotoxicosis and hyperemesis gravidarum. Genetically determined differences in the synthesis or metabolism of human chorionic gonadotropin isoforms, or both may contribute to this increased risk.


Subject(s)
Pregnancy Complications/blood , Thyrotoxicosis/complications , Adult , Chorionic Gonadotropin/blood , Chorionic Gonadotropin, beta Subunit, Human/blood , Female , Humans , Iodine/urine , Pregnancy , Saudi Arabia/epidemiology , Thyroid Function Tests , Thyroid Hormones/blood , Thyrotoxicosis/blood , Thyrotoxicosis/epidemiology
13.
Saudi Med J ; 23(4): 413-22, 2002 Apr.
Article in English | MEDLINE | ID: mdl-11953767

ABSTRACT

OBJECTIVE: To evaluate urinary iodine excretion during the course of pregnancy and postpartum in relation to maternal and neonatal thyroid function parameters in Saudi women living in Jeddah, Kingdom of Saudi Arabia. METHODS: A prospective longitudinal study was conducted on Saudi normal pregnant women during the course of pregnancy (N=80), at term and 6-10 weeks postpartum (N=65), during the period January 1997 through to December 2000. Maternal urinary iodine excretion was determined together with serum levels of total thyroxine, total tri-iodothyronine, free thyroxine, free tri-iodothyronine, thyrotropin, reverse tri-iodothyronine, thyroxine-binding globulin and thyroglobulin. A group of non-pregnant woman (N=200) were included for comparative purposes. Data were also analyzed for significant trends using ANOVA. Neonatal serum levels of total thyroxine, total tri-iodothyronine, free thyroxine, thyrotropin, thyroxine-binding globulin, and thyroglobulin were also measured. RESULTS: Changes in urinary iodine excretion and in serum thyroid function parameters during the course of pregnancy, at term and postpartum have been demonstrated. Subclinical iodine deficiency was evident in 28.8% of pregnant women at term and 11.5% of women at 6-10 weeks postpartum. Serum total thyroxine and total tri-iodothyronine levels increased in the first trimester (P<0.001) and remained elevated at term (P<0.001). Serum free thyroxine levels showed a significant decrease by the 2nd trimester (P<0.001) and continued to decrease in the 3rd trimester (P<0.001). Serum free tri-iodothyronine showed continuous decrease throughout gestation. Thyrotropin levels were decreased during the first and 2nd trimesters (P<0.001) but then increased to be comparable to non-pregnant values. Serum reverse tri-iodothyronine increased during the first and 2nd trimesters (P<0.001). There was a significant increase in serum thyroxine-binding globulin and thyroglobulin levels during the course of pregnancy. A significant negative correlation between thyrotropin and human chorionic gonadotropin levels was observed throughout pregnancy (r=-0.31, P<0.001). The observed correlation was stronger (r=-0.37; P<0.001) in the first trimester as compared to that in the second (r=-0.164; P<0.001) or the third (r=-0.125; P<0.269) trimester. There was a negative correlation between maternal free thyroxine and neonatal thyrotropin (r=-0.70; P<0.001). Positive correlation was found between neonatal total thyroxine and birth weight (r=0.61; P<0.001) and maternal urinary iodine concentration (P<0.001). CONCLUSION: The changes in urinary iodine excretion during the course of pregnancy were documented. The decrease in free thyroxine and free tri-iodothyronine and the increase in reverse tri-iodothyronine concentrations during pregnancy resemble the changes in thyroid hormones seen in non-thyroidal illness. Moreover, the changes in thyrotropin in relation to that of human chorionic gonadotropin support the view that the thyroid gland is not primarily thyrotropin driven in early pregnancy. The results suggest that a more complex control may finally regulate maternal thyroid activity; the pituitary and the chorionic systems both function in an independent way in response to possible different feedback stimuli. This could be a physiological adaptation enabling energy conservation during the high metabolic demands of pregnancy. Finally, the results of the present study point to the need of an increased iodine supply in Saudi pregnant women living in Jeddah, Kingdom of Saudi Arabia to decrease the potential consequences of low iodine intake on maternal thyroid economy.


Subject(s)
Iodine/urine , Postpartum Period/physiology , Pregnancy/physiology , Thyroid Gland/physiology , Female , Humans , Infant, Newborn , Postpartum Period/blood , Postpartum Period/urine , Pregnancy/blood , Pregnancy/urine , Prospective Studies , Thyroid Function Tests , Thyroid Hormones/blood
14.
Cancer Res ; 61(20): 7616-22, 2001 Oct 15.
Article in English | MEDLINE | ID: mdl-11606402

ABSTRACT

Familial adenomatous polyposis, an autosomal-dominantly inherited colorectal cancer predisposition syndrome, is caused by germ-line mutations in the adenomatous polyposis coli (APC) gene. Despite the use of different screening methods, studies worldwide fail to identify APC mutations in 20-50% of all familial adenomatous polyposis patients (APC mutation-negatives). In this study, missense mutations in the coding region of the APC gene, which would have been missed by the protein truncation test, as well as mutations in the APC promoter and the 3' untranslated region, were determined by the single nucleotide polymorphism discovery assay and direct DNA sequencing in 31 mutation-negative polyposis patients. Seventeen gene alterations were identified, whereof four (12.9%) represent possibly pathogenic germ-line mutations: silent A290T (promoter) and A8822G (3' untranslated region) as well as missense R99W and E1317Q (coding region). The 27 remaining, truly APC mutation-negative polyposis patients displayed a significantly later age at diagnosis compared with APC mutation carriers (46.1 versus 35.2 years; P < 0.01). APC mutation-negative individuals with >100 colonic polyps were more likely to present with extracolonic disease (P < 0.05) than those with <100. Assessment of microsatellite instability (MSI), a hallmark of mismatch repair deficiency, in 68 tumors from 21 truly APC mutation-negative patients, identified 4 (5.9%) unstable tubulo-villous adenomas (3 MSI-High and 1 MSI-Low), stemming from 4 (19%) unrelated individuals and likely to be caused by hMLH1 promoter hypermethylation. In conclusion, only a small proportion of APC germ-line mutation carriers is missed by the protein truncation test, and mismatch repair deficiency does not seem to substantially contribute to tumor development in APC mutation-negative polyposis patients.


Subject(s)
Adenomatous Polyposis Coli/genetics , Base Pair Mismatch , DNA Repair , Genes, APC/genetics , Germ-Line Mutation , 3' Untranslated Regions/genetics , Adult , Aged , Female , Humans , Male , Microsatellite Repeats/genetics , Middle Aged , Phenotype , Promoter Regions, Genetic/genetics
15.
Can Fam Physician ; 41: 807-12, 1995 May.
Article in English | MEDLINE | ID: mdl-7756918

ABSTRACT

Family physicians are in a strategic position to help couples adjust to the many changes that occur during the transition to parenthood. We review some of the issues for fathers at this time and suggest strategies for family physicians for including fathers and assisting couples to adjust to the changes in the interest of promoting healthy families.


Subject(s)
Adaptation, Psychological , Fathers/psychology , Parenting/psychology , Counseling , Family Practice , Fathers/education , Female , Humans , Life Change Events , Male , Physician's Role , Self-Help Groups
16.
Environ Aciton ; 22(5): 12-5, 1991.
Article in English | MEDLINE | ID: mdl-12286556

ABSTRACT

PIP: The focus of the discussion of US national environmental efforts on population growth issues is on carrying capacity, the impact of the antiabortion movement, the insensitivity of some population control advocated to people of color, and congressional and presidential actions. Efforts are being made to surmount the mistrust that has characterized efforts to deal with population issues. The World Wildlife Fund, the Sierra Club, and the National Audubon Society recognize the need for population stabilization, albeit with meager budgets. Carrying capacity is the number of people the earth can sustain without rapidly depleting non-renewable resources or degrading resources necessary to sustain life. In 1970, Earth Day called for stabilization of the global population, but most celebrations of Earth Day in 1990 did not recognize this. Sensitive issues are involved, and the abortion controversy has muffled open forums on population growth. Lobbyists were successful in having the US withdraw funding for international family planning (FP) programs that had abortion components. Then Reagan eliminated all funding to the UN Fund for Population Activities, because of China's FP policies. The results for women have been disastrous. Zero Population Growth has been conducting information meetings for environmental groups. The National wildlife Federation has a new program linking population and environmental issues but will not deal with the issue of abortion. A Philadelphia editorial recommended implanted contraceptives for welfare mothers, which raised fears of the reemergence of the eugenic movement which sought involuntary sterilization or population control for the poor. Another effort was to protect the US from immigration as a way of curbing population growth. Meaningful change means education women, changing unfavorable survival conditions, and heeding the reasons women have children. Japan's FP Association criticizes population control efforts undertaken for economic and political benefit without attention being paid to people's lives. An informal coalition is supporting a large FP grant to the USAID. Senate leadership is more open for FP issues, and a bill has been proposed to increase international FP funds.^ieng


Subject(s)
Abortion, Induced , Conservation of Natural Resources , Environment , Evaluation Studies as Topic , Family Characteristics , Health Facilities, Proprietary , Health Planning , International Cooperation , Legislation as Topic , Population Dynamics , Population Growth , Public Opinion , Sex Education , Demography , Education , Family Planning Services , Organization and Administration , Politics , Population , Population Density
17.
Can Fam Physician ; 37: 377-80, 1991 Feb.
Article in English | MEDLINE | ID: mdl-21228986

ABSTRACT

Family physicians are in contact with families as they pass through various stages and become aware of marital and family problems. By offering guidance and patient education before problems arise, physicians can avoid trouble and encourage healthy marital and parenting patterns. This article presents the Family Life Cycle framework and discusses the stresses that occur at marriage and at the birth of the first child. Helpful tools can be shared with patients.

18.
Med Educ ; 24(5): 461-6, 1990 Sep.
Article in English | MEDLINE | ID: mdl-2215300

ABSTRACT

Educational programmes for family practice should develop family counselling skills of students to moderate levels of competence. Few specific training programmes are part of the regular curriculum and of these few are evaluated. Twenty-three residents enrolled in a 2-year family practice programme in Toronto, Canada participated in a non-randomized control intervention study to assess a specific training programme. Pre-training counselling skills, and ability were assessed using two types of generally recognized measurement instruments, the Carkhuff Stems of Communication Skills and the Carkhuff Discrimination Index. The treatment group entered the training programme which involved supervised family counselling 8 half-days each week for one month as part of their usual rotations. They completed a second set of instruments following this course to assess immediate within-group change and then both they and the control group completed a set about one year later to measure differences. Initial scores for all residents showed a less than 'minimally facilitative' level of counselling response on both empathy and warmth dimensions. Following the course, the treatment group scored above this level and significantly better than the control group. Furthermore, the former showed a 20% improvement in ability to discriminate between effective and ineffective helping responses which was sustained over one year, while the control group's scores became worse. Teaching of counselling skills can be effective.


Subject(s)
Counseling/education , Family Practice/education , Internship and Residency , Adult , Clinical Competence , Female , Humans , Male , Ontario
19.
Aust Fam Physician ; 19(4): 522-3, 526, 528, 1990 Apr.
Article in English | MEDLINE | ID: mdl-2363657

ABSTRACT

Family therapy is ideally undertaken by general practitioners who are in a unique position as providers of continuing care and family care. It is important for them to work together with families in the counselling process and to avoid the common pitfalls of working in isolation and assuming personal responsibility for changing the family.


Subject(s)
Family Practice , Family Therapy , Family , Counseling , Humans , Patient Education as Topic
20.
Integration ; (23): 38-9, 1990 Apr.
Article in English | MEDLINE | ID: mdl-12316327

ABSTRACT

PIP: The war on the women of America is being actively repelled through the efforts on Molly Yard and the National Organization for Women (NOW), Tamar Abrams and the National Abortion Rights Action League, the Freedom Caravan for Women's Lives, and the many women actively supporting pro-choice. At issue is the Supreme Court decision in Webster v. Reproductive Health Services which limits women's right to choose. It is feared that the Court will proceed with overturning Roe v. Wade, which gives women the right to terminate unwanted pregnancies; 7 states are attempting to ban abortion entirely: Arkansas, Idaho, Illinois, Kentucky, Louisiana, Missouri and South Dakota. 6 are expected to maintain legal rights: Alaska, Hawaii, Main, Oregon, Vermont, and Washington. The political pro-choice strategy has been to organize protest activities where there was a challenge to pro-choice--in Florida, California, and in gubernatorial races in New Jersey and Virginia. Voters were mobilized by telephone, newspaper ads, and cable television promotions outlining pro-choice positions. Success was achieved in both state gubernatorial elections, and in California's replacement assemblyman race with Tricia Hunter winning against 7 anti-choice contenders. The Caravan which began on Women's Equality day on August 26, 1989 in Atlantic City, New Jersey (NJ) raised $10,000 for the NJ lobbying effort; walkathons and lobbying activity maximized the impact. For example, there was a rally in a solidly Republican city where the antiabortion candidate support was strong; the pro-choice support was evident. The RU-486, an effective abortifacient, manufacturer with offices in NJ was approached with 1000 cards of support. The Florida special legislative session antiabortion effort was defeated, but pressure will be maintained on the Governor and antichoice legislators. Pro-choice Democrat Douglas Wilder of Virginia, who was the state's 1st black legislator, was supported and won the election. Even though November's election and the national mobilization are over, the future political effort will continue with demonstrations, lobbying, letter writing, and organizing to prevent illegal abortions, and as Molly Yard says to soundly defeat the antifemale bigots of the religious right.^ieng


Subject(s)
Legislation as Topic , Philosophy , Politics , Public Opinion , Public Policy , Abortion, Induced , Americas , Developed Countries , Family Planning Services , North America , United States
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