Post-tonsillectomy hemorrhagic outcomes in children with bleeding disorders at a single institution.

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Patel, Priyesh N; Arambula, Alexandra M; Wheeler, Allison P; Penn, Edward B

2017-09-01

To report on the post-tonsillectomy bleeding outcomes and factors associated with hemorrhage among children with pre- or post-operatively diagnosed bleeding disorders treated with an institutional protocol. Retrospective cohort study of patients with hematologic disorders who underwent tonsillectomy between 2003 and 2016 and were treated with perioperative desmopressin or factor replacement and/or aminocaproic acid. Postoperative outcomes were compared to controls matched for age, sex, and indication for surgery. Analysis of factors associated with hemorrhage was performed in patients with bleeding disorders using Mann-Whitney U or chi-squared tests. 45 patients with hematologic disorders met inclusion criteria. Platelet dysfunction, including von Willebrand Disease (vWD), was the most common diagnosis (77.8%). Most patients had a preoperative diagnosis of a bleeding disorder and received perioperative hematologic medications (86.7%). Compared to matched controls, patients with hematologic disorders experienced more postoperative bleeding (15.5%; 12 bleeds, 7 patients vs. 1.7%; 1 bleed, 1 patient, p = 0.05) and had longer postoperative stays (1.3 days vs. 0.4 days, p bleed were significantly more likely to have a factor deficiency (e.g. Hemophilia over vWD) and have a postoperative diagnosis (compared to preoperative diagnosis) for which they did not receive perioperative hematologic medication. Of patients with a postoperative bleed, all those diagnosed postoperatively required at least one surgical intervention to control bleeding compared to 33% of patients with a preoperative diagnosis. A history of post-surgical bleeding, male sex, age at surgery, and pharyngitis as surgical indication were not associated with higher hemorrhage rates in this group. This study suggests a clinically important magnitude of increased bleeding risk in patients with hematologic disease. This risk appears to decrease with the use of an institutional protocol consisting of

Prophylactic treatment of hereditary severe factor VII deficiency in pregnancy.

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Pfrepper, Christian; Siegemund, Annelie; Hildebrandt, Sven; Kronberg, Juliane; Scholz, Ute; Niederwieser, Dietger

2017-09-01

: Severe hereditary factor VII deficiency is a rare bleeding disorder and may be associated with a severe bleeding phenotype. We describe a pregnancy in a 33-year-old woman with compound heterozygous factor VII deficiency and a history of severe menorrhagia and mucocutaneous bleedings. After discontinuation of contraceptives, menstruation was covered with recombinant activated factor VII (rFVIIa), and during pregnancy, rFVIIa had to be administered in first trimester in doses ranging from 15 to 90 μg/kg per day because of recurrent retroplacental hematomas and vaginal bleedings. Thrombin generation was measured in first trimester at different doses of rFVIIa and showed an increase in lag time when doses of less than 30 μg/kg/day were administered, whereas time to thrombin peak and peak thrombin were not influenced. A low-dose rFVIIa prophylactic treatment of 15 μg/kg every other day in the late second and in the third trimester was sufficient to allow a successful childbirth in this patient with severe factor VII deficiency.

Post-partum hemorrhage in women with rare bleeding disorders.

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Peyvandi, Flora; Menegatti, Marzia; Siboni, Simona Maria

2011-02-01

Post-partum hemorrhage (PPH) accounts for a substantial fraction of maternal deaths in the general population. Among all women, however, those affected with rare bleeding disorders (RBDs) represent a particular group since to usual bleeding symptoms, they are likely to experience bleedings associated to obstetrical and gynaecological problems. Pregnancy and childbirth, two important stages in the life of a woman, pose a special clinical challenge in women with RBDs, since information about these issues are really scarce and limited to few case reports. These data show that all women with RBDs, except for FXI deficiency, have to be considered potentially at risk for developing PPH, therefore they should be monitored carefully during and immediately after pregnancy. The implication is that women with bleeding disorders may require prophylaxis and/or close observation for several weeks and should be followed by a multidisciplinary team including expertises such as laboratory haematologist, obstetrician-gynaecologist, anaesthesiologist, family physician, and laboratory technician. © 2011 Elsevier Ltd. All rights reserved.

The prevalence of underlying bleeding disorders in patients with heavy menstrual bleeding with and without gynecologic abnormalities

NARCIS (Netherlands)

Knol, H. Marieke; Mulder, Andre; Bogchelman, Dick H.; Kluin-Nelemans, Hanneke C.; van der Zee, Ate G. J.; Meijer, Karina

OBJECTIVE: The purpose of this study was to assess the prevalence of underlying bleeding disorders in women with heavy menstrual bleeding (HMB) with and without gynecologic abnormalities. STUDY DESIGN: We performed a single-center prospective cohort study of 112 consecutive patients who were

Ten-year study of postoperative complications following dental extractions in patients with inherited bleeding disorders.

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Hsieh, J-T; Klein, K; Batstone, M

2017-09-01

Dental extractions challenge the body's haemostatic mechanism. Postoperative bleeding from dental extraction can be prolonged, or even life threatening in patients with inherited bleeding disorders. Pre- and postoperative clotting factor replacements or systemic desmopressin (ddAVP) have been advocated at our institution to prevent bleeding complications in these patients. This study aimed to assess the postoperative bleeding rate in patients with inherited bleeding disorders that underwent dental extractions at our institution between 2003 and 2012. Patients with inherited bleeding disorders such as haemophilia A, haemophilia B, and von Willebrand's disease were included. Retrospective chart review was conducted. The result showed 53 extraction events occurred in 45 patients over the 10-year period. Ten out of 53 extraction events (18.9%) had postoperative bleeding requiring further factor replacement or ddAVP. Postoperative bleeding in one patient with mild haemophilia A was complicated by the development of inhibitors. Type and severity of bleeding disorder, bone removal, and use of a local haemostatic agent did not have any significant effect on postoperative bleeding. Despite the use of perioperative factors and desmopressin, the postoperative bleeding rates remain high for patients with inherited bleeding disorders. More studies are required to assess the safety and effectiveness of using local haemostatic control to achieve haemostasis following extractions. Crown Copyright © 2017. Published by Elsevier Ltd. All rights reserved.

Genetics of hereditary neurological disorders in children.

Science.gov (United States)

Huang, Yue; Yu, Sui; Wu, Zhanhe; Tang, Beisha

2014-04-01

Hereditary neurological disorders (HNDs) are relatively common in children compared to those occurring in adulthood. Recognising clinical manifestations of HNDs is important for the selection of genetic testing, genetic testing results interpretation, and genetic consultation. Meanwhile, advances in next generation sequencing (NGS) technologies have significantly enabled the discovery of genetic causes of HNDs and also challenge paediatricians on applying genetic investigation. Combination of both clinical information and advanced technologies will enhance the genetic test yields in clinical setting. This review summarises the clinical presentations as well as genetic causes of paediatric neurological disorders in four major areas including movement disorders, neuropsychiatric disorders, neuron peripheral disorders and epilepsy. The aim of this review is to help paediatric neurologists not only to see the clinical features but also the complex genetic aspect of HNDs in order to utilise genetic investigation confidently in their clinical practice. A smooth transition from research based to clinical use of comprehensive genetic testing in HNDs in children could be foreseen in the near future while genetic testing, genetic counselling and genetic data interpretation are in place appropriately.

Health-related quality of life, developmental milestones, and self-esteem in young adults with bleeding disorders.

Science.gov (United States)

Limperg, P F; Haverman, L; Maurice-Stam, H; Coppens, M; Valk, C; Kruip, M J H A; Eikenboom, J; Peters, M; Grootenhuis, M A

2018-01-01

The treatment of bleeding disorders improved in the last decades. However, the effect of growing up with bleeding disorders on developmental, emotional, and social aspects is understudied. Therefore, this study assesses HRQOL, developmental milestones, and self-esteem in Dutch young adults (YA) with bleeding disorders compared to peers. Ninety-five YA (18-30 years) with bleeding disorders (78 men; mean 24.7 years, SD 3.5) and 17 women (mean 25.1 years, SD 3.8) participated and completed the Pediatric Quality of Life Inventory Young Adult version, the Course of Life Questionnaire, and the Rosenberg Self-Esteem Scale. Differences between patients with bleeding disorders and their peers, and between hemophilia severity groups, were tested using Mann-Whitney U tests. YA men with bleeding disorders report a slightly lower HRQOL on the total scale, physical functioning, and school/work functioning in comparison to healthy peers (small effect sizes). YA men with severe hemophilia report more problems on the physical functioning scale than non-severe hemophilia. YA men with bleeding disorders achieved more psychosexual developmental milestones than peers, but show a delay in 'paid jobs, during middle and/or high school.' A somewhat lower self-esteem was found in YA men with bleeding disorders in comparison to peers (small effect size). For YA women with bleeding disorders, no differences were found on any of the outcomes in comparison to peers. This study demonstrates some impairments in HRQOL and self-esteem in YA men with bleeding disorders. By monitoring HRQOL, problems can be identified early, especially with regard to their physical and professional/school functioning.

Severity and Features of Epistaxis in Children with a Mucocutaneous Bleeding Disorder

NARCIS (Netherlands)

Stokhuijzen, Eva; Segbefia, Catherine I.; Biss, Tina T.; Clark, Dewi S.; James, Paula D.; Riddel, Jim; Blanchette, Victor S.; Rand, Margaret L.

2018-01-01

Objective To use standardized bleeding questionnaires to compare the severity and patterns of epistaxis in children with a mucocutaneous bleeding disorder and control children. Study design The epistaxis sections of the Pediatric Bleeding Questionnaire (PBQ) administered to pediatric patients with

GFI1B mutation causes a bleeding disorder with abnormal platelet function.

Science.gov (United States)

Stevenson, W S; Morel-Kopp, M-C; Chen, Q; Liang, H P; Bromhead, C J; Wright, S; Turakulov, R; Ng, A P; Roberts, A W; Bahlo, M; Ward, C M

2013-11-01

GFI1B is a transcription factor important for erythropoiesis and megakaryocyte development but previously unknown to be associated with human disease. A family with a novel bleeding disorder was identified and characterized. Genetic linkage analysis and massively parallel sequencing were used to localize the mutation causing the disease phenotype on chromosome 9. Functional studies were then performed in megakaryocytic cell lines to determine the biological effects of the mutant transcript. We have identified a family with an autosomal dominant bleeding disorder associated with macrothrombocytopenia, red cell anisopoikilocytosis, and platelet dysfunction. The severity of bleeding is variable with some affected individuals experiencing spontaneous bleeding while other family members exhibit only abnormal bleeding with surgery. A single nucleotide insertion was identified in GFI1B that predicts a frameshift mutation in the fifth zinc finger DNA-binding domain. This mutation alters the transcriptional activity of the protein, resulting in a reduction in platelet α-granule content and aberrant expression of key platelet proteins. GFI1B mutation represents a novel human bleeding disorder, and the described phenotype identifies GFI1B as a critical regulator of platelet shape, number, and function. © 2013 International Society on Thrombosis and Haemostasis.

Treatment for preventing bleeding in people with haemophilia or other congenital bleeding disorders undergoing surgery.

Science.gov (United States)

Coppola, Antonio; Windyga, Jerzy; Tufano, Antonella; Yeung, Cindy; Di Minno, Matteo Nicola Dario

2015-02-09

In people with haemophilia or other congenital bleeding disorders undergoing surgical interventions, haemostatic treatment is needed in order to correct the underlying coagulation abnormalities and minimise the bleeding risk. This treatment varies according to the specific haemostatic defect, its severity and the type of surgical procedure. The aim of treatment is to ensure adequate haemostatic coverage for as long as the bleeding risk persists and until wound healing is complete. To assess the effectiveness and safety of different haemostatic regimens (type, dose and duration, modality of administration and target haemostatic levels) administered in people with haemophilia or other congenital bleeding disorders for preventing bleeding complications during and after surgical procedures. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Coagulopathies Trials Register, compiled from electronic database searches and handsearching of journals and conference abstract books. We also searched the reference lists of relevant articles and reviews.Date of the last search: 20 November 2014. Randomised and quasi-randomised controlled trials comparing any hemostatic treatment regimen to no treatment or to another active regimen in children and adults with haemophilia or other congenital bleeding disorders undergoing any surgical intervention. Two authors independently assessed trials (eligibility and risks of bias) and extracted data. Meta-analyses were performed on available and relevant data. Of the 16 identified trials, four (112 participants) were eligible for inclusion.Two trials evaluated 59 people with haemophilia A and B undergoing 63 dental extractions. Trials compared the use of a different type (tranexamic acid or epsilon-aminocaproic acid) and regimen of antifibrinolytic agents as haemostatic support to the initial replacement treatment. Neither trial specifically addressed mortality (one of this review's primary outcomes); however, in the frame

Clinical audit of inherited bleeding disorders in a developing country

Directory of Open Access Journals (Sweden)

Sajid Raihan

2010-01-01

Full Text Available Objective: We did a clinical audit to determine the status of coagulation disorders in a hemophilia care center in Pakistan. Setting: Fatimid foundation blood bank and hematological diseases center, Lahore. Study Design: This is a retrospective descriptive study. Materials and Methods: All patients registered at Lahore center were included. Data was collected using a questionnaire including age, gender, diagnosis, hepatitis and human immune deficiency virus (HIV status, number of episodes of bleeding, most common site of bleeding, severity of disorder and number of transfusions required to treat the episode. Results: During the study period, a total of 923 registered patients were reviewed at Lahore center and of these, 408 patients (44.2% were on regular follow-up. Inherited bleeding disorders identified in these patients included hemophilia A, hemophilia B, vWD, factor VII deficiency, factor V deficiency, factor X deficiency, dysfibrinogenemia, afibrinogenemia, factor XIII deficiency; and platelet function defects. Median age was 17 years with a range of three to 57 years. Median age at diagnosis was one year. There were 329 (80.6% males and 79 (19.3% females. The products used in these patients included factor VIII concentrate, fresh frozen plasma, cryoprecipitate, cryosupernatant and platelets. Testing for transmission of viral infections was also done in these patients and one patient (0.2% was found hepatitis B positive, six patients (1.4% were hepatitis C positive and two patients (0.49% were HIV positive. Conclusion: Hemophilia A, hemophilia B and vWD are the commonly encountered inherited bleeding disorders in our patients followed by other recessively transmitted disorders with a median age of 17 years and male to female ratio of 4: 1. Most of the patients utilized services available at Fatimid foundation with good clinical results. In Pakistan, non-governmental organizations (NGOs are trying their best for providing optimal treatment

Animal Models of Hemophilia and Related Bleeding Disorders

Science.gov (United States)

Lozier, Jay N.; Nichols, Timothy C.

2013-01-01

Animal models of hemophilia and related diseases are important for development of novel treatments and to understand the pathophysiology of bleeding disorders in humans. Testing in animals with the equivalent human disorder provides informed estimates of doses and measures of efficacy, which aids in design of human trials. Many models of hemophilia A, hemophilia B, and von Willebrand disease have been developed from animals with spontaneous mutations (hemophilia A dogs, rats, sheep; hemophilia B dogs; and von Willebrand disease pigs and dogs), or by targeted gene disruption in mice to create hemophilia A, B, or VWD models. Animal models have been used to generate new insights into the pathophysiology of each bleeding disorder and also to perform pre-clinical assessments of standard protein replacement therapies as well as novel gene transfer technology. Both the differences between species and differences in underlying causative mutations must be considered in choosing the best animal for a specific scientific study PMID:23956467

Rare acquired hemostatic disorders as a cause of prolonged bleeding – presentation of two case reports

Directory of Open Access Journals (Sweden)

Polona Novak

2011-10-01

Full Text Available BACKGROUNDPatient’s anamnesis is of primary importance in determining hemostatic disorders. Based on anamnestic data, a clinician may decide for further laboratory tests. We must consider an acquired bleeding disorder in a patient with unusual, unexpected and prolonged bleeding episodes. In this article we will describe two rare acquired hemostatic disordes.TWO CASE REPORTSOur first patient had prolonged bleeding after a pacemaker implantation. We diagnosed him with acquired von Willebrand syndrome. Further on, the patient required a planned surgical procedure. In our second case we describe a patient with unusual and excessive skin bruising and prolonged bleeding after teeth extractions. He was diagnosed with acquired hemophilia.CONCLUSIONIn the assessment of a patient with a potential acquired bleeding disorder we must first rule out the most common causes, such as iatrogenic ones. But, because of high morbidity and mortality rates, we must also be aware of some rare acquired bleeding disorders. In case of uncertainty, we should consult with a hematologist.

Bleeding Disorders in Women

Science.gov (United States)

... might be heavy, print and use a menstrual chart to track your bleeding and talk to your ... you’re “low in iron.” Heavy bleeding after dental surgery, other surgery, or childbirth. Prolonged bleeding episodes ...

Abnormal Uterine Bleeding including coagulopathies and other menstrual disorders.

Science.gov (United States)

Deligeoroglou, Efthimios; Karountzos, Vasileios

2018-04-01

Abnormal Uterine Bleeding (AUB) is a frequent cause of visits to the emergency department and a major reason for concern among adolescents and their families. The most common cause of AUB, in otherwise healthy adolescents, is ovulatory dysfunction, although 5-36% of adolescents who present with heavy menstrual bleeding, have an underlying bleeding disorder (BD). The most common form of BDs is von Willebrand Disease, reflecting 13% of adolescents with AUB. Management of AUB depends on the underlying etiology, the bleeding severity, as well as the need for hospitalization. Treatment of adolescents with an underlying coagulopathy depends on the severity of the BD, while therapeutic interventions are summarized in supportive measures, hormonal treatments (e.g. Combined Oral Contraceptives), non-hormonal treatments (e.g. tranexamic acid and desmopressin), surgical options (e.g. dilatation & curettage) and treatment options in specific conditions. Copyright © 2017 Elsevier Ltd. All rights reserved.

[Hereditary hemorrhagic telangiectasia presenting with hematuria and severe anemia].

Science.gov (United States)

Paz, A; Goren, E; Segal, M

1995-07-01

A patient with hereditary hemorrhagic telangiectasia was admitted with hematuria and severe anemia after mild recurrent episodes of epistaxis. Telangiectasias were found in the skin and buccal and nasal mucosa. No defect in the coagulation mechanism was found; thrombocyte count and function were normal. On cystoscopy, tortuous engorged vessels, some actively bleeding, were seen in the trigonal mucosa. Biopsy showed enlarged vessels in the lamina propria. Electrocoagulation of the bleeding vessels stopped hematuria, but 6 months later it recurred. This time Nd-YAG laser was used to stop the bleeding after electrocoagulation was ineffective.

Bevacizumab for Refractory Gastrointestinal Bleeding in Rendu-Osler-Weber Disease

Science.gov (United States)

Bernardes, Carlos; Santos, Sara; Loureiro, Rafaela; Borges, Verónica; Ramos, Gonçalo

2018-01-01

Rendu-Osler-Weber disease, also known as hereditary hemorrhagic telangiectasia, is a rare autosomal dominant disorder which is often characterized by recurrent epistaxis, mucocutaneous and gastrointestinal telangiectasias, and visceral arteriovenous malformations. Patients with gastrointestinal involvement can present with a wide spectrum of severity, which may vary from uncomplicated iron deficiency anemia to continuous and refractory bleeding. We present the case of a 62-year-old female, who was admitted with anemia following several episodes of melena, and whose endoscopic examination revealed multiple angiodysplasias in the stomach and small bowel. Despite endoscopic and medical treatment attempts with hormonal agents and octreotide, she developed persistent hemorrhage and severe anemia, requiring frequent red blood cell transfusions. Immediately after initiating bevacizumab (7.5 mg/kg, every 3 weeks), complete cessation of bleeding episodes was observed. Currently, after 1 year of follow-up, she maintained sustained remission without the occurrence of adverse events. PMID:29662934

Application of Molecular Genetics to the Investigation of Inherited Bleeding Disorders

DEFF Research Database (Denmark)

Lethagen, Stefan Rune; Dunø, Morten; Nielsen, Lars Bo

2013-01-01

Hemophilia is an inherited bleeding disorder primarily caused by deficiency of coagulation factor (F)VIII (hemophilia A) or FIX (hemophilia B). Both conditions are X-linked. More than 2100 different F8 mutations have been described, the most common being a 500 kb inversion involving exon 1 to exo...... quality control systems in place, and participate in established external quality assessment programs....... the causative mutation is unknown. More rare bleeding disorders are generally recessively inherited, and are often caused by mutations that are specific for individual families, and mutations are scattered throughout the genes. Laboratories performing molecular genetic analyses must have validated internal...

Health-related quality of life, developmental milestones, and self-esteem in young adults with bleeding disorders

NARCIS (Netherlands)

Limperg, P.F. (P. F.); L. Haverman (Lotte); H. Maurice-Stam (Heleen); M. Coppens; Valk, C. (C.); M.J.H.A. Kruip (Marieke); J.C.J. Eikenboom (Jeroen); M. Peters; M.A. Grootenhuis (Martha)

2017-01-01

textabstractBackground: The treatment of bleeding disorders improved in the last decades. However, the effect of growing up with bleeding disorders on developmental, emotional, and social aspects is understudied. Therefore, this study assesses HRQOL, developmental milestones, and self-esteem in

Detection of bleeding disorders in Lebanon: outcomes of a pilot programme.

Science.gov (United States)

Djambas Khayat, C; Samaha, H; Noun, P; Bakhos Asmar, J D; Taher, A; Adib, S; Inati, A; Sakr, S

2014-03-01

To promote management and awareness of bleeding disorders in Lebanon, a pilot programme was launched in 2009 by the Lebanese Hemophilia Association assisted by World Federation of Hemophilia. The aim of this study was to diagnose patients with bleeding disorders and to assess the potential challenges in implementing a screening programme. The pilot project was launched in 26 social health centres in the Bekaa valley. The study tools included the evaluation of the Tossetto Bleeding Score and the Pictorial Bleeding Assessment Chart (PBAC) for menstruation. Persons with a bleeding score higher than 2 and PBAC higher than 185 were eligible for further blood tests including the prothrombin time, partial thromboplastin time, complete blood count, bleeding time and von Willebrand ristocetin cofactor activity. 643 patients were enrolled, of whom 60.6% were women. Overall, 91 persons had an abnormal score. 50 eligible patients were tested: 32 had normal tests, nine new patients with severe Von Willebrand were discovered, 4 had VW:RiCo of 40, 3 prolonged APTT and 2 thrombocytopaenia. There was a clear correlation between the severity of the score and the willingness to perform the tests (P = 0.02). Women were reluctant to participate fully when investigators were men. The probability of adherence to the screening protocol is significantly increased when directed by women health care professional. For patients with milder forms, global screening programmes were neither feasible nor acceptable but those more severely affected have to be identified. Providers are crucial in preselecting patients with blood problems who are not coping well. © 2013 John Wiley & Sons Ltd.

Health-related quality of life, developmental milestones, and self-esteem in young adults with bleeding disorders

NARCIS (Netherlands)

Limperg, P. F.; Haverman, L.; Maurice-Stam, H.; Coppens, M.; Valk, C.; Kruip, M. J. H. A.; Eikenboom, J.; Peters, M.; Grootenhuis, M. A.

2018-01-01

The treatment of bleeding disorders improved in the last decades. However, the effect of growing up with bleeding disorders on developmental, emotional, and social aspects is understudied. Therefore, this study assesses HRQOL, developmental milestones, and self-esteem in Dutch young adults (YA) with

Von Willebrand disease and other bleeding disorders in women: consensus on diagnosis and management from an international expert panel

NARCIS (Netherlands)

James, Andra H.; Kouides, Peter A.; Abdul-Kadir, Rezan; Edlund, Mans; Federici, Augusto B.; Halimeh, Susan; Kamphuisen, Pieter W.; Konkle, Barbara A.; Martínez-Perez, Oscar; McLintock, Claire; Peyvandi, Flora; Winikoff, Rochelle

2009-01-01

Reproductive tract bleeding in women is a naturally occurring event during menstruation and childbirth. In women with menorrhagia, however, congenital bleeding disorders historically have been underdiagnosed. This consensus is intended to allow physicians to better recognize bleeding disorders as a

Effects of a 6-week, individualized, supervised exercise program for people with bleeding disorders and hemophilic arthritis.

Science.gov (United States)

Mulvany, Ruth; Zucker-Levin, Audrey R; Jeng, Michael; Joyce, Catherine; Tuller, Janet; Rose, Jonathan M; Dugdale, Marion

2010-04-01

People with bleeding disorders may develop severe arthritis due to joint hemorrhages. Exercise is recommended for people with bleeding disorders, but guidelines are vague and few studies document efficacy. In this study, 65% of people with bleeding disorders surveyed reported participating in minimal exercise, and 50% indicated a fear of exercise-induced bleeding, pain, or physical impairment. The purpose of this study was to examine the feasibility, safety, and efficacy of a professionally designed, individualized, supervised exercise program for people with bleeding disorders. A single-group, pretest-posttest clinical design was used. Thirty-three patients (3 female, 30 male; 7-57 years of age) with mild to severe bleeding disorders were enrolled in the study. Twelve patients had co-existing illnesses, including HIV/AIDS, hepatitis, diabetes, fibromyalgia, neurofibromatosis, osteopenia, osteogenesis imperfecta, or cancer. Pre- and post-program measures included upper- and lower-extremity strength (force-generating capacity), joint range of motion, joint and extremity circumference, and distance walked in 6 minutes. Each patient was prescribed a 6-week, twice-weekly, individualized, supervised exercise program. Twenty participants (61%) completed the program. Pre- and post-program data were analyzed by paired t tests for all participants who completed the program. No exercise-induced injuries, pain, edema, or bleeding episodes were reported. Significant improvements occurred in joint motion, strength, and distance walked in 6 minutes, with no change in joint circumference. The greatest gains were among the individuals with the most severe joint damage and coexisting illness. Limitations included a small sample size with concomitant disease, which is common to the population, and a nonblinded examiner. A professionally designed and supervised, individualized exercise program is feasible, safe, and beneficial for people with bleeding disorders, even in the presence

Haemostatic disorders in reproductive age women with menorrhagia and effects on quality of life.

Science.gov (United States)

Hacioglu, Sibel; Karabulut, Aysun; Sari, Ismail; Keskin, Ali

2016-11-01

The aim of this study was to determine the frequency of haemostatic abnormalities in women with menorrhagia and to evaluate their effect on quality of life (QoL). The study population was composed of patients with menorrhagia seen in the outpatient clinic, having a score of >185 with a pictorial blood assessment chart. Structured questionnaires were used in the assessment of demographic characteristics and QoL, and patients were tested for bleeding disorders. Ninety women were recruited for the study. Bleeding disorders were detected in 40% of them: 11.1% had von Willebrand disease, 2.2% had low von Willebrand factor and 26.7% had platelet function disorders (PFD). In 22 (91.6%) cases with PFD the, defect was non-specific and impaired aggregation response to ristocetine (37.5%) was the most commonly detected problem. Bleeding disorders were not associated with any significant reduction in QoL (p > .05). Hereditary bleeding disorders may be the cause of unexplained menorrhagia even in the middle-aged women, but they had no prominent effect on QoL.

Hereditary Hearing Loss.

Science.gov (United States)

Tran, LenhAnh P.; Grundfast, Kenneth M.

1997-01-01

This article discusses inheritance patterns in hearing loss, epidemiology, clues to genetic causes, locating genes that cause hereditary disorders, genes related to hearing loss disorders in individuals with Usher syndrome, Waardenburg syndrome, Treacher-Collins syndrome, Branchio-oto-renal and Pendred syndromes, and the significance of finding…

Depression and post-traumatic stress disorder in individuals with hereditary hemorrhagic telangiectasia: A cross-sectional survey.

Science.gov (United States)

Chaturvedi, Shruti; Clancy, Marianne; Schaefer, Nicole; Oluwole, Olalekan; McCrae, Keith R

2017-05-01

Hereditary hemorrhagic telangiectasia (HHT) is characterized by frequent severe bleeding, particularly epistaxis, and life-threatening complications including stroke, brain abscess and heart failure. The psychological impact of HHT is not known. We conducted this cross sectional study to determine the prevalence of depression and post-traumatic stress disorder (PTSD) related to HHT. A survey tool comprising demographic and clinical information and two validated self-administered questionnaires, the PTSD checklist for DSM-5 (PCL-5) and Beck Depression Inventory-II (BDI-II), was distributed to individuals with HHT. Associations with clinical and demographic variables with depression and PTSD were evaluated in a logistic regression model. A total of 222 individuals responded to the survey. Of these, 185 completed either the BDI II or PCL-5 and were included in the analysis. Median age was 54years and 142 (76.8%) were female. An existing diagnosis of depression, anxiety disorder and PTSD was present in 81 (43.8%), 59 (31.9%) and 16(8.6%) respondents, respectively. BDI-II scores>13 indicating at least mild depressive symptoms were present in 142 (88.7%) patients and 52 (28.1%) patients had a positive screen for PTSD (PCL-5 score≥38). On multivariable analysis, depression [OR 2.17 (95% CI 1.045-4.489), p=0.038], anxiety disorder [OR 2.232 (95% CI 1.066-4.676), p=0.033], and being unemployed [OR 2.234 (95% CI 1.46-4.714), p=0.019) were associated with PTSD. We report a high prevalence of depressive and PTSD symptoms in individuals with HHT. While selection bias may lead to overestimation of prevalence in this study, our results are concerning and clinicians should remain vigilant for signs of psychological distress and consider screening for these disorders. Copyright © 2017 Elsevier Ltd. All rights reserved.

Efficacy, safety and pharmacokinetics of a new high-purity factor X concentrate in women and girls with hereditary factor X deficiency.

Science.gov (United States)

Kulkarni, R; James, A H; Norton, M; Shapiro, A

2018-05-01

Essentials Plasma-derived factor X concentrate (pdFX) is used to treat hereditary factor X deficiency. pdFX pharmacokinetics, safety and efficacy were assessed in factor X-deficient women/girls. Treatment success rate was 98%; only 6 adverse events in 2 subjects were possibly pdFX related. On-demand pdFX 25 IU kg -1 was effective and safe in women/girls with factor X deficiency. Background A high-purity, plasma-derived factor X concentrate (pdFX) has been approved for the treatment of hereditary FX deficiency, an autosomal recessive disorder. Objective To perform post hoc assessments of pdFX pharmacokinetics, safety and efficacy in women and girls with hereditary FX deficiency. Patients/Methods Subjects aged ≥ 12 years with moderate/severe FX deficiency (plasma FX activity of girls (aged 14-58 years [median, 25.5 years]) received 267 pdFX infusions. Mean monthly infusions per subject were higher among women and girls (2.48) than among men and boys (1.62). In women and girls, 132 assessable bleeding episodes (61 heavy menstrual bleeds, 47 joint bleeds, 15 muscle bleeds, and nine other bleeds) were treated with pdFX, with a 98% treatment success rate versus 100% in men and boys. Mean pdFX incremental recovery was similar in the two groups (2.05 IU dL -1 versus 1.91 IU dL -1 per IU kg -1 ), as was the mean half-life (29.3 h versus 29.5 h). Of 142 adverse events in women and girls, headache was the most common (12 events in six subjects). Six events (two infusion-site erythema, two fatigue, one back pain, one infusion-site pain) in two subjects were considered to be possibly pdFX-related. Following the trial, pdFX was used to successfully maintain hemostasis in two subjects undergoing obstetric delivery. Conclusions pdFX was well tolerated and effective in women and girls with FX deficiency. Although women and girls had different bleeding symptoms and sites than men and boys, their pdFX pharmacokinetic profile was comparable. © 2018 The Authors. Journal of

Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia

DEFF Research Database (Denmark)

Kjeldsen, A D; Møller, T R; Brusgaard, K

2005-01-01

BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease, characterized by a wide variety of clinical manifestations, including epistaxis, gastrointestinal (GI) bleeding, pulmonary arteriovenous malformations (PAVMs) and neurological symptoms. HHT is a genetically...... patients had experienced more severe GI bleeding than HHT2 patients. There was no significant difference in severity of epistaxis or age at debut. Finally the mortality over a 90-month observation period was not significantly increased....

Cellular characteristics of hereditary diseases of man

International Nuclear Information System (INIS)

Sasaki, Masao

1978-01-01

Hereditary diseases of which abnormal characters could be detected at cultured cell level were introduced, and tissue cultures of them were described. Characteristics such as reproduction, disorder, elimination, and repair of DNA in hereditary diseases with high cancer risk such as Bloom syndrome, etc. were investigated. Radiosensitivity of these hereditary diseases was also described, and factors of carcinogenesis were investigated. (Serizawa, K.)

[Examination of the hereditary burden for the depressive disorder].

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Svilar, Nenad; Latas, Vesna

2008-01-01

Depressive disorders represent a group of diseases of a very complex etiology. The onset of this disease is determined by genetic and psychosocial factors. The presence of psychiatric disorders in families affects the onset and severity of the depressive disorder in offspring. The aim of this study was to determine the existence of differences in socio-biographic and clinical parameters between a group of depressive patients who have first degree relatives with psychiatric disorders (G1) and a group of depressive patients who have no first degree relatives with psychiatric disorders (G2). A number of 57 hospitalized patients were included and divided in two groups. Parameters observed: socio-demographic and biographic data, severity of the clinical status, period of the disease. Data were collected by using a socio-demographic questionnaire, Clinical Global Impression-Severity Scale and Hamilton depressive disorder scale. It has been found that the patients from G1 have a significantly higher rate for the parameter "broken home", p=0.014. Also, there were significant differences for the parameters: early insomnia (p=0.026), genital symptoms (p=0.016), (more manifested in G1). The results of the multivariate regression analysis showed that patients from G1 having higher level of hereditary burden had a more severe clinical status on the day of the admission to hospital. The research showed the influence of aggregation of psychiatric disorders in families on the onset and severity of depressive disorders. The interaction of genetic and psychosocial factors has been confirmed in the etiology of depression.

Genetic disorder in carbohydrates metabolism: hereditary fructose intolerance associated with celiac disease.

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Păcurar, Daniela; Leşanu, Gabriela; Dijmărescu, Irina; Ţincu, Iulia Florentina; Gherghiceanu, Mihaela; Orăşeanu, Dumitru

2017-01-01

Celiac disease (CD) has been associated with several genetic and immune disorders, but association between CD and hereditary fructose intolerance (HFI) is extremely rare. HFI is an autosomal recessive disease caused by catalytic deficiency of aldolase B (fructose-1,6-bisphosphate aldolase). We report the case of a 5-year-old boy suffering from CD, admitted with an initial diagnosis of Reye's-like syndrome. He presented with episodic unconsciousness, seizures, hypoglycemia, hepatomegaly and abnormal liver function. The patient has been on an exclusion diet for three years, but he still had symptoms: stunting, hepatomegaly, high transaminases, but tissue transglutaminase antibodies were negative. Liver biopsy showed hepatic steatosis and mitochondrial damage. The dietary history showed an aversion to fruits, vegetables and sweet-tasting foods. The fructose tolerance test was positive, revealing the diagnostic of hereditary fructose intolerance. Appropriate dietary management and precautions were recommended. The patient has been symptom-free and exhibited normal growth and development until 10 years of age.

Nasal closure for the treatment of epistaxis secondary to hereditary hemorrhagic telangiectasia.

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Sena Esteves, Sara; Cardoso, Carla; Silva, Ana; Abrunhosa, José; Almeida E Sousa, Cecília

Hereditary hemorrhagic telangiectasia (HHT), also known by the eponym Osler-Weber-Rendu syndrome, is an autosomal dominant disorder characterised by the presence of multiple arteriovenous malformations (AVMs) affecting multiple organs. Many procedures have been used for epistaxis control in patients with this disorder. The objective of this study was to report the treatment of severe HHT-related epistaxiswith the modified Young's procedure. We describe the treatment of 4 patients with severe blood-transfusion-dependent epistaxis who underwent a modified Young's procedure in a tertiary hospital. The nasal closure was bilateral and complete in all cases. All patients were followed for 12 months or longer. The procedure was well tolerated and complete cessation of bleeding was achieved in all the patients. Young's technique is a safe surgical procedure, well tolerated by patients with severe epistaxis and HHT. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. All rights reserved.

Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders.

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Smith, Corrine O; Lipe, Hillary P; Bird, Thomas D

2004-06-01

With the exception of Huntington disease, the psychological and psychosocial impact of DNA testing for neurogenetic disorders has not been well studied. To evaluate the psychosocial impact of genetic testing for autosomal dominant forms of hereditary ataxia and neuromuscular disorders. Patients Fifty subjects at risk for autosomal dominant forms of spinocerebellar ataxia (n = 11), muscular dystrophy (n = 28), and hereditary neuropathy (n = 12). A prospective, descriptive, observational study in a university setting of individuals who underwent genetic counseling and DNA testing. Participants completed 3 questionnaires before testing and at regular intervals after testing. The questionnaire set included the Revised Impact of Event Scale, the Hospital Anxiety and Depression Scale, demographic information, and an assessment of attitudes and feelings about genetic testing. Thirty-nine subjects (78%) completed 6 months to 5 years of posttest follow-up. Common reasons for pursuing genetic testing were to provide an explanation for symptoms, emotional relief, and information for future planning. Thirty-four (68%) had positive and 16 (32%) had negative genetic results. In those with a positive result, 26 (76%) had nonspecific signs or symptoms of the relevant disorder. Forty-two participants (84%) felt genetic testing was beneficial. Groups with positive and negative test results coped well with results. However, 13 subjects (10 with positive and 3 with negative results) reported elevated anxiety levels, and 3 (1 with positive and 2 with negative results) expressed feelings of depression during the follow-up period. The test result was not predictive of anxiety or depression. Most individuals find neurogenetic testing to be beneficial, regardless of the result. Anxiety or depression may persist in some persons with positive or negative test results. Testing can have a demonstrable impact on family planning and interpersonal relationships. Further studies are needed to

A prospective cohort study of light transmission platelet aggregometry for bleeding disorders: is testing native platelet-rich plasma non-inferior to testing platelet count adjusted samples?

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Castilloux, Jean Francois; Moffat, Karen A; Liu, Yang; Seecharan, Jodi; Pai, Menaka; Hayward, Catherine P M

2011-10-01

Light transmission platelet aggregometry (LTA) is important to diagnose bleeding disorders. Experts recommend testing LTA with native (N) rather than platelet count adjusted (A) platelet-rich plasma (PRP), although it is unclear if this provides non-inferior, or superior, detection of bleeding disorders. Our goal was to determine if LTA with NPRP is non-inferior to LTA with APRP for bleeding disorder assessments. A prospective cohort of patients, referred for bleeding disorder testing, and healthy controls, were evaluated by LTA using common agonists, NPRP and APRP (adjusted to 250 x 10⁹ platelets/l). Recruitment continued until 40 controls and 40 patients with definite bleeding disorders were tested. Maximal aggregation (MA) data were assessed for the detection of abnormalities from bleeding disorders (all causes combined to limit bias), using sample-type specific reference intervals. Areas under receiver-operator curves (AUROC) were evaluated using pre-defined criteria (area differences: 0 for superiority). Forty-four controls and 209 patients were evaluated. Chart reviews for 169 patients indicated 67 had bleeding disorders, 28 from inherited platelet secretion defects. Mean MA differences between NPRP and APRP were small for most agonists (ranges, controls: -3.3 to 5.8; patients: -3.0 to 13.7). With both samples, reduced MA with two or more agonists was associated with a bleeding disorder. AUROC differences between NPRP and APRP were small and indicated that NPRP were non-inferior to APRP for detecting bleeding disorders by LTA, whereas APRP met superiority criteria. Our study validates using either NPRP or APRP for LTA assessments of bleeding disorders.

Genetics Home Reference: hereditary leiomyomatosis and renal cell cancer

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... Home Health Conditions HLRCC Hereditary leiomyomatosis and renal cell cancer Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description Hereditary leiomyomatosis and renal cell cancer ( HLRCC ) is a disorder in which affected individuals ...

The Design of Studies to Evaluate Hereditary and Environmental Contributions to the Etiology of Behavioral Disorders.

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Rosenthal, David

The introductory discussion focuses on the change in the current scientific climate regarding the role of heredity in the etiology of behavioral disorders. The author and his colleagues embarked on a series of studies, using naturally occurring adoptions as their subject source, to tease apart hereditary and environmental factors thought to be…

Hereditary kidney cancer syndromes: Genetic disorders driven by alterations in metabolism and epigenome regulation.

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Hasumi, Hisashi; Yao, Masahiro

2018-03-01

Although hereditary kidney cancer syndrome accounts for approximately five percent of all kidney cancers, the mechanistic insight into tumor development in these rare conditions has provided the foundation for the development of molecular targeting agents currently used for sporadic kidney cancer. In the late 1980s, the comprehensive study for hereditary kidney cancer syndrome was launched in the National Cancer Institute, USA and the first kidney cancer-associated gene, VHL, was identified through kindred analysis of von Hippel-Lindau (VHL) syndrome in 1993. Subsequent molecular studies on VHL function have elucidated that the VHL protein is a component of E3 ubiquitin ligase complex for hypoxia-inducible factor (HIF), which provided the basis for the development of tyrosine kinase inhibitors targeting the HIF-VEGF/PDGF pathway. Recent whole-exome sequencing analysis of sporadic kidney cancer exhibited the recurrent mutations in chromatin remodeling genes and the later study has revealed that several chromatin remodeling genes are altered in kidney cancer kindred at the germline level. To date, more than 10 hereditary kidney cancer syndromes together with each responsible gene have been characterized and most of the causative genes for these genetic disorders are associated with either metabolism or epigenome regulation. In this review article, we describe the molecular mechanisms of how an alteration of each kidney cancer-associated gene leads to renal tumorigenesis as well as denote therapeutic targets elicited by studies on hereditary kidney cancer. © 2018 The Authors. Cancer Science published by John Wiley & Sons Australia, Ltd on behalf of Japanese Cancer Association.

Treatment Modalities in Adolescents Who present With Heavy Menstrual Bleeding.

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Alaqzam, Tasneem S; Stanley, Angela C; Simpson, Pippa M; Flood, Veronica H; Menon, Seema

2018-03-07

This study sought to determine the relationship of bleeding disorders to iron deficiency anemia. Additionally, this study was undertaken to examine all current treatment modalities used in a menorrhagia clinic with respect to heavy menstrual bleeding management to identify the most effective options for menstrual management in the setting of an underlying bleeding disorder. DESIGN, SETTING, PARTICIPANT, INTERVENTION, AND MAIN OUTCOME MEASURES: Retrospective chart review of adolescent <21 years with heavy menstrual bleeding attending a multidisciplinary hematology-adolescent gynecology clinic. Information included demographics, bleeding diathesis, hematologic parameters, treatment, and the diagnosis was extracted from each chart. Subjects were grouped into two categories based on the diagnosis of a bleeding disorder. Hemoglobin level, iron deficiency anemia, and need for transfusion were compared between a bleeding disorder and no bleeding disorder group. Subjects were grouped into categories depending on hormonal modality and treatment success of the groups were compared. 73 subjects tested for a bleeding disorder. Of the subjects completing testing, 34 (46%) were diagnosed with a bleeding disorders. 39 (54%) subjects had heavy menstrual bleeding due to other causes. There was no significant difference in hemoglobin between those with and without a bleeding disorder. Iron deficiency anemia was significantly higher in subjects without bleeding disorder. When comparing hormone therapy success, the levonorgestrel IUD (LNG-IUD) (89%) had the highest rate of menstrual suppression followed by norethindrone acetate 5-10mg/day (83%), and the transdermal patch (80%). All subjects using both tranexamic acid and hormonal therapy had 100% achievement of menstrual suppression. A high frequency of bleeding disorder was found in those tested. Subjects with a bleeding disorder were less likely to present with severe anemia requiring blood transfusion and less likely to have iron

Android Mobile Informatics Application for some Hereditary Diseases and Disorders (AMAHD: A complementary framework for medical practitioners and patients

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Olugbenga Oluwagbemi

Full Text Available Hereditary diseases and disorders constitute a public health problem. Many people in rural communities of developing countries of the world are particularly ignorant about the cause, modes of transmissions and the treatment plans for such diseases. In some cases, some people lack essential knowledge between common and rare hereditary diseases.It is therefore appropriate and essential to develop a mobile application that will act as an educative resource and a good knowledge base for common and rare hereditary diseases.The aim of this research is to develop AMAHD (Android Mobile Informatics Application for some Hereditary Diseases and Disorders.The objectives of this research are to create an android mobile application that will act as a reference point and provide useful information about various hereditary diseases to medical personnel and professionals; provide additional educational resource to biological and bioinformatics researchers in different higher institutions; and provide a pedagogical, diagnostic and complementary foundational learning tool for African research students in biosciences, bioinformatics, and all other categories of students that currently engage in multidisciplinary research in the aspect of hereditary diseases.Essential data was sourced from relevant literature. We developed AMAHD through an integration of programming languages in Java and XML (Extended Markup Language. SQLite was used to implement the database. We developed a Logical Disjunction Rule-based Algorithm (LDRA for the AMAHD’s diagnosis module.A comparative analysis between existing commercial hereditary mobile applications and AMAHD was conducted and the results presented. A world-wide online survey (spanning Africa, Asia, Europe, America and Australia was conducted to sample the opinion of individuals across the globe on the classification of hereditary diseases as either rare or common, within their respective regions. In addition, an evaluation of

[Rendu-Osler-Weber disease

NARCIS (Netherlands)

Sys, L.M.; Hoogen, F.J.A. van den

2005-01-01

Rendu-Osler-Weber disease or hereditary hemorrhagic telangiectasia (HHT) is a multisystem autosomal dominant hereditary disorder. The disorder is manifested by multiple dysplasia of blood vessels of the skin and mucous membranes. This results in recurrent and sometimes severe bleeding, of which

Hereditary periodic fever syndromes

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McDermott, MF; Frenkel, J

Hereditary periodic fever syndromes are defined by recurrent attacks of generalised inflammation for which no infectious or auto-immune cause can be identified. For most of these disorders, the molecular basis has recently been elucidated. This has opened the prospect of novel therapeutic

Direct-to-consumer advertising for bleeding disorders: a content analysis and expert evaluation of advertising claims.

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Abel, G A; Neufeld, E J; Sorel, M; Weeks, J C

2008-10-01

In the United States, the Food and Drug Administration (FDA) requires that all direct-to-consumer advertising (DTCA) contain both an accurate statement of a medication's effects ('truth') and an even-handed discussion of its benefits and risks/adverse effects ('fair balance'). DTCA for medications to treat rare diseases such as bleeding disorders is unlikely to be given high priority for FDA review. We reviewed all DTCA for bleeding disorder products appearing in the patient-directed magazine HemeAware from January 2004 to June 2006. We categorized the information presented in each advertisement as benefit, risk/adverse effect, or neither, and assessed the amount of text and type size devoted to each. We also assessed the readability of each type of text using the Flesch Reading Ease Score (FRES, where a score of >or=65 is considered of average readability), and assessed the accuracy of the advertising claims utilizing a panel of five bleeding disorder experts. A total of 39 unique advertisements for 12 products were found. On average, approximately twice the amount of text was devoted to benefits as compared with risks/adverse effects, and the latter was more difficult to read [FRES of 32.0 for benefits vs. 20.5 for risks/adverse effects, a difference of 11.5 (95% CI: 4.5-18.5)]. Only about two-thirds of the advertising claims were considered by a majority of the experts to be based on at least low-quality evidence. As measured by our methods, print DTCA for bleeding disorders may not reach the FDA's standards of truth and fair balance.

Heavy Menstrual Bleeding (Menorrhagia)

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... Us Information For… Media Policy Makers Blood Disorders Heavy Menstrual Bleeding Recommend on Facebook Tweet Share Compartir ... It can also be bleeding that is very heavy. How do you know if you have heavy ...

Major and minor form of hereditary hyperekplexia

NARCIS (Netherlands)

Tijssen, MAJ; Vergouwe, MN; van Dijk, JG; Rees, M; Frants, RR; Brown, P

Hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. Within the disorder two clinical forms can be distinguished. The major form is characterized by continuous generalized stiffness in the first year of life and an exaggerated startle reflex, accompanied

A Review of Hereditary Fructose Intolerance

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Mogoş Tiberius

2016-03-01

Full Text Available Fructose intolerance is a metabolic disorder with hereditary determinism, clinically manifested on terms of fructose intake. Untreated, hereditary fructose intolerance may result in renal and hepatic failure. Unfortunately, there are no formal diagnostic and surveillance guidelines for this disease. If identified and treated before the occurrence of permanent organ damage, patients can improve their symptoms and self-rated health. Implementation and adherence to a strict fructose free diet is often difficult, but not impossible.

Direct-to-consumer advertising for bleeding disorders: a content analysis and expert evaluation of advertising claims

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Abel, G. A.; Neufeld, E. J.; Sorel, M; Weeks, J. C.

2009-01-01

OBJECTIVE In the United States, the Food and Drug Administration (FDA) requires that all direct-to-consumer advertising (DTCA) contain both an accurate statement of a medication’s effects (“truth”) and an even-handed discussion of its benefits and risks/adverse effects (“fair balance”). DTCA for medications to treat rare diseases such as bleeding disorders is unlikely to be given high priority for FDA review. METHODS We reviewed all DTCA for bleeding disorder products appearing in the patient-directed magazine HemeAware from January, 2004 to June, 2006. We categorized the information presented in each advertisement as benefit, risk/adverse effect, or neither, and assessed the amount of text and type size devoted to each. We also assessed the readability of each type of text using the Flesch Reading Ease Score (FRES, where a score of ≥ 65 is considered of average readability), and assessed the accuracy of the advertising claims utilizing a panel of five bleeding disorder experts. RESULTS A total of 39 unique advertisements for 12 products were found. On average, approximately twice the amount of text was devoted to benefits as compared to risks/adverse effects, and the later was more difficult to read (FRES of 20.45 for risks/adverse effects versus 32.08 for benefits; difference of 11.56 [95% CI: 4.52, 18.60]). Only about two-thirds of the advertising claims were considered by a majority of the experts to be based on at least low-quality evidence. CONCLUSION As measured by our methods, print DTCA for bleeding disorders may not reach the FDA’s standards of truth and fair balance. PMID:18647231

Cognitive dysfunction in hereditary spastic paraplegias and other motor neuron disorders

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Ingrid Faber

Full Text Available ABSTRACT Hereditary spastic paraplegia (HSP is a diverse group of single-gene disorders that share the predominant clinical feature of progressive lower limb spasticity and weakness. More than 70 different genetic subtypes have been described and all modes of inheritance are possible. Intellectual dysfunction in HSP is frequent in recessive forms but rare in dominant families. It may manifest by either mental retardation and/or cognitive decline. The latter may be subtle, restricted to executive dysfunction or may evolve to severe dementia. The cognitive profile is thought to depend largely on the genetic subtype of HSP, although wide phenotypic variability within the same genetic subtype and also within the same family can be found.

Prevalence of and risk for gastrointestinal bleeding and peptic ulcerative disorders in a cohort of HIV patients from a U.S. healthcare claims database.

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Emily Bratton

Full Text Available The primary study objectives were to estimate the frequencies and rates of gastrointestinal bleeding and peptic ulcerative disorder in HIV-positive patients compared with age- and sex-matched HIV-negative subjects. Data from a US insurance claims database was used for this analysis. Among 89,207 patients with HIV, 9.0% had a GI bleed, 1.0% had an upper gastrointestinal bleed, 5.6% had a lower gastrointestinal bleed, 1.9% had a peptic ulcerative disorder diagnosis, and 0.6% had both gastrointestinal/peptic ulcerative disorder. Among 267,615 HIV-negative subjects, the respective frequencies were 6.9%, 0.6%, 4.3%, 1.4%, and 0.4% (p<0.0001 for each diagnosis subcategory. After combining effect measure modifiers into comedication and comorbidity strata, gastrointestinal bleeding hazard ratios (HRs were higher for HIV-positive patients without comedication/comorbidity, and those with comedication alone (HR, 2.73; 95% confidence interval [CI], 2.62-2.84; HR, 1.59; 95% CI, 1.47-1.71. The rate of peptic ulcerative disorder among those without a history of ulcers and no comorbidity/comedication was also elevated (HR, 2.72; 95% CI, 2.48-2.99. Hazard ratios of gastrointestinal bleeding, and peptic ulcerative disorder without a history of ulcers were lower among patients infected with HIV with comedication/comorbidity (HR, 0.64; 95% CI, 0.56-0.73; HR, 0.46; 95% CI, 0.33-0.65. Rates of gastrointestinal bleeding plus peptic ulcerative disorder followed a similar pattern. In summary, the rates of gastrointestinal/peptic ulcerative disorder events comparing HIV-infected subjects to non-HIV-infected subjects were differential based on comorbidity and comedication status.

Hereditary Gigantism-the biblical giant Goliath and his brothers.

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Donnelly, Deirdre E; Morrison, Patrick J

2014-05-01

The biblical giant Goliath has an identifiable family tree suggestive of autosomal dominant inheritance. We suggest that he had a hereditary pituitary disorder possibly due to the AIP gene, causing early onset and familial acromegaly or gigantism. We comment on the evidence within the scriptures for his other relatives including a relative with six digits and speculate on possible causes of the six digits. Recognition of a hereditary pituitary disorder in the biblical Goliath and his family sheds additional information on his and other family members' battles with David and his relatives.

Antimyosin scintigraphy in patients with acquired and hereditary muscular disorders

International Nuclear Information System (INIS)

Loefberg, M.; Liewendahl, K.; Savolainen, S.; Nikkinen, P.; Lamminen, A.; Tiula, E.; Somer, H.

1994-01-01

Scintigraphy with indium-111 labelled antimyosin has an established role in the evaluation of cardiac muscle damage. This antibody has been shown to cross-react with myosin in skeletal muscle. We therefore studied the usefulness of this method for the detection of skeletal muscle lesions in rhabdomyolysis, myositis and hereditary muscular dystrophies. All nine patients with rhabdomyolysis had focal uptake of antimyosin antibody which correlated with the clinical findings of soft tissue damage. However, a number of symptomless lesions were also detected by immunoscintigraphy. In rhabdomyolysis the target to non-target uptake ratios varied from 1.3 to 7.6. Diffuse uptake of antibody in skeletal muscle was observed in all three patients with polymyositis-dermatomyositis and in 12 out of 13 patients with muscular dystrophies. In myositis the intensity of antibody accumulation correlated reasonably well with the magnitude of oedema detected by magnetic resonance imaging (MRI). Most patients with Becker type or non-X-chromosomal muscular dystrophies showed slight or moderate uptake of antibody, mainly in the lower extremities. In these patients more antibody accumulated in the calves than in the thighs, whereas the findings on MRI were more prominent in the thighs than in the calves, presumably because of the better preserved muscle bulk in the calves. We conclude that antimyosin scintigraphy can be used for the detection of muscle lesions not only in acquired muscle diseases but also in hereditary muscular disorders, and that immunoscintigraphy provides information on muscle disease activity not obtainable with MRI. (orig.)

Antimyosin scintigraphy in patients with acquired and hereditary muscular disorders

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Loefberg, M. (Dept. of Neurology, Helsinki Univ. Central Hospital (Finland)); Liewendahl, K. (Dept. of Clinical Chemistry, Helsinki Univ. Central Hospital (Finland)); Savolainen, S. (Dept. of Clinical Chemistry, Helsinki Univ. Central Hospital (Finland)); Nikkinen, P. (Dept. of Clinical Chemistry, Helsinki Univ. Central Hospital (Finland)); Lamminen, A. (Dept. of Radiology, Helsinki Univ. Central Hospital (Finland)); Tiula, E. (First Dept. of Internal Medicine, Helsinki Univ. Central Hospital (Finland)); Somer, H. (Dept. of Neurology, Helsinki Univ. Central Hospital (Finland))

1994-10-01

Scintigraphy with indium-111 labelled antimyosin has an established role in the evaluation of cardiac muscle damage. This antibody has been shown to cross-react with myosin in skeletal muscle. We therefore studied the usefulness of this method for the detection of skeletal muscle lesions in rhabdomyolysis, myositis and hereditary muscular dystrophies. All nine patients with rhabdomyolysis had focal uptake of antimyosin antibody which correlated with the clinical findings of soft tissue damage. However, a number of symptomless lesions were also detected by immunoscintigraphy. In rhabdomyolysis the target to non-target uptake ratios varied from 1.3 to 7.6. Diffuse uptake of antibody in skeletal muscle was observed in all three patients with polymyositis-dermatomyositis and in 12 out of 13 patients with muscular dystrophies. In myositis the intensity of antibody accumulation correlated reasonably well with the magnitude of oedema detected by magnetic resonance imaging (MRI). Most patients with Becker type or non-X-chromosomal muscular dystrophies showed slight or moderate uptake of antibody, mainly in the lower extremities. In these patients more antibody accumulated in the calves than in the thighs, whereas the findings on MRI were more prominent in the thighs than in the calves, presumably because of the better preserved muscle bulk in the calves. We conclude that antimyosin scintigraphy can be used for the detection of muscle lesions not only in acquired muscle diseases but also in hereditary muscular disorders, and that immunoscintigraphy provides information on muscle disease activity not obtainable with MRI. (orig.)

Recent pharmacological management of oral bleeding in hemophilic patient

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Monica Widyawati Setiawan

2011-09-01

Full Text Available Background: Hemophilia is a hereditary bleeding disorder that can increase the risk of disease in oral cavity. Sometimes hemophilia is not always established already in a patient. The lack of awareness of hemophilia presence can cause serious problem. Purpose: The purpose of this review is to explain about dental bleeding manifestation and management in hemophilic patient. Reviews: Hemophilia can be manifested as dental bleeding that cannot stop spontaneously. It should be treated with factor VIIII either by giving whole blood, fresh plasma, fresh frozen plasma, cryoprecipitate, and factor VIII concentrate. Factor VIII dose for hemophilia treatment can be calculated based on factor VIII present in hemophilia patient’s body. Factor VIII can also be given as prophylaxis to prevent bleeding. Complications that can be caused by factor VIII replacement therapy are the presence of factor VIII inhibitor and transfusion related diseases. Treatment of dental bleeding due to hemophilia consists of factor replacement therapy and supportive therapy. Conclusion: Treatment of dental bleeding due to hemophilia consists of factor replacement therapy and supportive therapy. There are complications that can happen due to factor VIII replacement therapy that should be considered and anticipated.Latar belakang: Hemofilia adalah kelainan pembekuan darah yang diturunkan. Hemophilia dapat meningkatkan resiko penyakit rongga mulut. Hemofilia tidak selalu sudah terdiagnosa saat penderita melakukan kunjungan ke dokter gigi. Kurangnya kewaspadaan akan adanya hemofilia dapat menyebabkan masalah serius. Tujuan: Tujuan dari kajian pustaka ini adalah memaparkan tentang manifestasi dan penanganan perdarahan gigi pada penderita hemofilia. Tinjauan pustaka: hemofilia dapat bermanifestasi sebagai perdarahan gigi yang tidak dapat berhenti secara spontan. Pada keadaan perdarahan tersebut, pemberian faktor VIII yang diberikan sebagai whole blood, fresh plasma, fresh frozen plasma

The impact of bleeding disorders on the socioeconomic status of adult patients. Results of a comparative single centre cohort study.

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Holstein, Katharina; von Mackensen, Sylvia; Bokemeyer, Carsten; Langer, Florian

2017-07-10

The impact of inherited bleeding disorders on the socioeconomic status (SES) of affected individuals is not clear. The SES of adult patients with congenital bleeding disorders (PWBD) from a centre in Germany (age 42.3 ± 15.0 years) was compared to that of a gender- and age-matched control group of patients with thrombophilia or a thrombotic event (PWT). Patients completed a questionnaire including aspects of SES, impact of the disease on their lives, and health-related quality of life (HRQoL). Forty-five patients were enrolled in each group; 71 % of PBWD had a severe form of the bleeding disorder (FVIII/IX activity impact of the disease on their lives than PWT (33.3 %, p impact of the disease on their lives compared to PWT, but not a significantly different SES in general.

Recognition and management of platelet-refractory bleeding in patients with Glanzmann’s thrombasthenia and other severe platelet function disorders

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Chitlur M

2017-04-01

Full Text Available Meera Chitlur,1 Madhvi Rajpurkar,1 Michael Recht,2 Michael D Tarantino,3 Donald L Yee,4 David L Cooper,5 Sriya Gunawardena5 1Carman and Ann Adams Department of Pediatrics, Wayne State University and Children’s Hospital of Michigan, Detroit, MI, USA; 2Oregon Health and Science University, Portland, OR, USA; 3Bleeding and Clotting Disorders Institute, Peoria, IL, USA; 4Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; 5Clinical Development, Medical and Regulatory Affairs, Novo Nordisk Inc., Plainsboro, NJ, USA Abstract: Patients with rare qualitative platelet disorders or platelet function disorders (PFDs may present to the hospital physician with severe bleeding episodes or excessive surgical bleeding. Although standard treatment consists of platelet transfusions, repeated transfusions may result in the development of antiplatelet antibodies (APA or clinical refractoriness, rendering further platelet therapy ineffective. In such settings, an approved treatment option for patients with Glanzmann’s thrombasthenia (GT, one of the well-known rare PFDs, is recombinant activated coagulation factor VII (rFVIIa. Data regarding the efficacy of rFVIIa in patients with GT and platelet refractoriness are available from a large patient registry, an international survey, and multiple case reports and demonstrate efficacy in patients with and without refractoriness or APA. This article reviews the rFVIIa clinical data in patients with GT and platelet refractoriness and discusses clinical implications relevant to the hospital-based physician. Because uncontrolled bleeding can be life-threatening, hospital physicians should be alert to the signs of platelet refractoriness, be able to recognize continued internal or external bleeding, and know how to adapt treatment regimens for the effective management of bleeding. The management of patients who receive rFVIIa should occur in consultation with a hematologist with experience in PFDs, and

The experience of girls and young women with inherited bleeding disorders.

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Khair, K; Holland, M; Pollard, D

2013-09-01

Haemophilia carriers and women with inherited bleeding disorders (IBD) experience menorrhagia, bleed following dentistry, surgery, injury or childbirth. Symptoms are easily treated leading to full and active lives. Nevertheless, some girls and women suffer with abnormal bleeding for many years before diagnosis. We explored the experiences of girls and young women (aged 9-34 years) with IBD by means of focus groups which consisted of moderated discussion addressing specific aspects of bleeding, management and coping strategies. Subsequently, these issues were explored further though a paper-based questionnaire distributed via five specialist haemophilia centres in the UK. The study suggested that young women with IBD who are managed at haemophilia centres receive appropriate care and feel well supported. Although the clinic-based literature available to these women is "fit for purpose", it does not fully address the perceived needs specifically regarding sex, menorrhagia, conception and childbirth, the Pill, tattoos/piercings and so on, leading many to turn to other information sources. Most of those who responded to our survey are confident in their lives, able to manage their IBD and take pragmatic views towards the inherited nature of their condition. But there is a substantial subgroup of women who experience stigmatization, isolation and bullying and express concerns relating to fertility and conception. Overall, this cohort would benefit from opportunities for mutual support. This could be via Internet-based social networking and may be of particular value to those who are unable to seek help from traditional medical services due to religious or other cultural barriers. © 2013 John Wiley & Sons Ltd.

[Hereditary heterozygous factor VII deficiency in patients undergoing surgery : Clinical relevance].

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Woehrle, D; Martinez, M; Bolliger, D

2016-10-01

A hereditary deficiency in coagulation factor VII (FVII) may affect the international normalized ratio (INR) value. However, FVII deficiency is occasionally associated with a tendency to bleed spontaneously. We hypothesized that perioperative substitution with coagulation factor concentrates might not be indicated in most patients. In this retrospective data analysis, we included all patients with hereditary heterozygous FVII deficiency who underwent surgical procedures at the University Hospital Basel between December 2010 and November 2015. In addition, by searching the literature, we identified publications reporting patients with FVII deficiency undergoing surgical procedures without perioperative substitution. We identified 22 patients undergoing 46 surgical procedures, resulting in a prevalence of 1:1500-2000. Coagulation factor concentrates were administered during the perioperative period in 15 procedures (33 %), whereas in the other 31 procedures (66 %), FVII deficiency was not substituted. No postoperative bleeding or thromboembolic events were reported. In addition, we found no differences in pre- and postoperative hemoglobin and coagulation parameters, with the exception of an improved postoperative INR value in the substituted group. In the literature review, we identified five publications, including 125 patients with FVII deficiency, undergoing 213 surgical procedures with no perioperative substitution. Preoperative substitution using coagulation factor concentrates does not seem to be mandatory in patients with an FVII level ≥15 %. For decision-making on preoperative substitution, patient history of an increased tendency to bleed may be more important than the FVII level or increased INR value.

Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes.

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Vogel, Adam P; Folker, Joanne; Poole, Matthew L

2014-10-28

Hereditary ataxia syndromes can result in significant speech impairment, a symptom thought to be responsive to treatment. The type of speech impairment most commonly reported in hereditary ataxias is dysarthria. Dysarthria is a collective term referring to a group of movement disorders affecting the muscular control of speech. Dysarthria affects the ability of individuals to communicate and to participate in society. This in turn reduces quality of life. Given the harmful impact of speech disorder on a person's functioning, treatment of speech impairment in these conditions is important and evidence-based interventions are needed. To assess the effects of interventions for speech disorder in adults and children with Friedreich ataxia and other hereditary ataxias. On 14 October 2013, we searched the Cochrane Neuromuscular Disease Group Specialized Register, CENTRAL, MEDLINE, EMBASE, CINAHL Plus, PsycINFO, Education Resources Information Center (ERIC), Linguistics and Language Behavior Abstracts (LLBA), Dissertation Abstracts and trials registries. We checked all references in the identified trials to identify any additional published data. We considered for inclusion randomised controlled trials (RCTs) or quasi-RCTs that compared treatments for hereditary ataxias with no treatment, placebo or another treatment or combination of treatments, where investigators measured speech production. Two review authors independently selected trials for inclusion, extracted data and assessed the risk of bias of included studies using the standard methodological procedures expected by The Cochrane Collaboration. The review authors collected information on adverse effects from included studies. We did not conduct a meta-analysis as no two studies utilised the same assessment procedures within the same treatment. Fourteen clinical trials, involving 721 participants, met the criteria for inclusion in the review. Thirteen studies compared a pharmaceutical treatment with placebo (or a

Vitamin K deficiency bleeding of the newborn

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Vitamin K deficiency bleeding of the newborn (VKDB) is a bleeding disorder in babies. It most often ... A lack of vitamin K may cause severe bleeding in newborn babies. Vitamin K plays an important role in blood clotting. Babies often ...

Challenges in the Evaluation for Possible Abuse: Presentations of Congenital Bleeding Disorders in Childhood

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Jackson, Jami; Carpenter, Shannon; Anderst, Jim

2012-01-01

Objectives: To describe children with congenital bleeding disorders that present in a manner that may be concerning for non-accidental trauma (NAT), and to evaluate associations with disease and demographic characteristics. Methods: Ten year retrospective charts of subjects were reviewed at a Hemophilia Treatment Center. Demographic, historical,…

Hereditary and non-hereditary microangiopathies in the young. An up-date.

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Ringelstein, E Bernd; Kleffner, Ilka; Dittrich, Ralf; Kuhlenbäumer, Gregor; Ritter, Martin A

2010-12-15

In recent years, a considerable number of new sporadic or hereditary small artery diseases of the brain have been detected which preferably occur in younger age, below 45 years. Cerebral microangiopathies constitute an appreciable portion of all strokes. In middle aged patients, hereditary cerebral small vessel diseases have to be separated from sporadic degenerative cerebral microangiopathy which is mainly due to a high vascular risk load. Features of the following disorders and details how to differentiate them, are reviewed here, namely CADASIL, MELAS, AD-RVLC, HEMID, CARASIL, PADMAL, FABRY, COL4A1-related cerebral small vessel diseases and a Portuguese type of autosomal dominant cerebral small vessel disease (SVDB). The symptomatic overlap of the cerebral microangiopathies include also other distinctive non-hereditary diseases like posterior (reversible) encephalopathy and Susac's syndrome which are also described. Some of the microangiopathies described here are not only seen in the young but also in the elderly. The precise diagnosis has direct therapeutic implications in several of these entities. Cerebral microangiopathies cause recurring strokes and diffuse white matter lesions leading to a broad spectrum of gait disturbances and in most of these disorders cognitive impairment or even vascular dementia in the long term. Often, they also involve the eye, the inner ear or the kidney. Several typical imaging findings from illustrative cases are presented. The order in which these diseases are presented here is not dictated by an inner logic principle, because a genetically or pathophysiologically based classification system of all these entities does not exist yet. Some entities are well established and not unusual, whereas others have only been described in a few cases in total. Copyright © 2010 Elsevier B.V. All rights reserved.

Imaging findings of arteriovenous malformations involving lung and liver in hereditary hemorrhagic telangiectasia(Osler-weber-rendu disease): two cases report

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Yi, Jeong Geun; Lee, Joo Hyuk; Seong, Su Ok [Cheongju St. Mary' s Hospital, Cheongju (Korea, Republic of)

1999-09-01

Hereditary hemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu disease is an autosomal dominant disorder characterized by repeated episodes of bleeding. Multiple telangiectases consisting of thin-walled, dilated vascular channels with arteriovenous communication may involve, for example, mucocutaneous tissue, the gastrointestinal tract, and the liver, lung, and brain. We report the imaging findings of two cases of HHT involving arteriovenous malformation of both the lungs and liver, a rare condition. Chest radiography revealed a round mass, while helical CT showed a feeding artery and draining vein with arteriovenous malformation in the lung. Color Doppler sonography revealed an enlarged and tortuous hepatic artery with high systolic velocity. CT demonstrated an enlarged hepatic artery, arteriovenous shunt, and early draining hepatic vein in the liver. Celiac angiography showed arteriovenous malformation.

Imaging findings of arteriovenous malformations involving lung and liver in hereditary hemorrhagic telangiectasia(Osler-weber-rendu disease): two cases report

International Nuclear Information System (INIS)

Yi, Jeong Geun; Lee, Joo Hyuk; Seong, Su Ok

1999-01-01

Hereditary hemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu disease is an autosomal dominant disorder characterized by repeated episodes of bleeding. Multiple telangiectases consisting of thin-walled, dilated vascular channels with arteriovenous communication may involve, for example, mucocutaneous tissue, the gastrointestinal tract, and the liver, lung, and brain. We report the imaging findings of two cases of HHT involving arteriovenous malformation of both the lungs and liver, a rare condition. Chest radiography revealed a round mass, while helical CT showed a feeding artery and draining vein with arteriovenous malformation in the lung. Color Doppler sonography revealed an enlarged and tortuous hepatic artery with high systolic velocity. CT demonstrated an enlarged hepatic artery, arteriovenous shunt, and early draining hepatic vein in the liver. Celiac angiography showed arteriovenous malformation

Clinical and laboratory characteristics of adolescents with platelet function disorders and heavy menstrual bleeding

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Amesse Lawrence S

2013-01-01

Full Text Available Abstract Background Platelet function disorders (PFDs have emerged as an important etiology of heavy menstrual bleeding (HMB in adolescents. However, neither clinical nor laboratory data have been methodically analyzed in this population subset. The objective of this study was to evaluate these parameters in order to distinguish characteristics of the disorder that in turn will lead to earlier diagnosis and therapy initiation. Methods Retrospective review of medical records from postmenarcheal adolescents with documented PFDs referred to a hemophilia treatment center and university faculty practices for bleeding diatheses with their clinical and laboratory data evaluated. Results Of 63 teens with documented PFDs, HMB was the most common clinical manifestation of PFD (43; 68.3%. Of these, 37 (86% were diagnosed with PFD either at or after menarche with the diagnosis based on HMB symptoms alone. Only 6 (14% were diagnosed with a PFD prior to menarche, based on associated bleeding, i.e., epistaxis, ecchymosis, and all developed HMB after menstruation onset. Interestingly, 20 girls were diagnosed with a PFD prior to menarche and of these, only 6 (30% went on to develop HMB after pubertal transition, while the majority (14; 70% did not. The average age-at-PFD diagnosis was 14.5yrs, significantly differing from the 10.9yrs average age-at-PFD diagnosis in their counterparts that, after menarche, did not develop HMB (PP P Conclusions Adolescents with PFDs and HMB appear to be clinically distinct from their non-HMB counterparts. This group of girls is characterized by HMB the major bleeding symptom, significantly high incidences of blood group O and the δ-SPD with a PFD diagnosed well after menarche. High false negative standard platelet function study results indicate additional diagnostic strategies, particularly for δ-SPD, should be considered.

Diagnosis and management of hereditary hemochromatosis.

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Salgia, Reena J; Brown, Kimberly

2015-02-01

Hereditary hemochromatosis is a rare genetic disorder that can have significant clinical consequences. Hemochromatosis is associated with iron overload, and can initially be recognized through laboratory testing for serum ferritin and transferrin saturation. Genetic testing for the HFE mutation can be performed in patients with elevated iron indices and a suspicion for hemochromatosis or liver disease. The main pathway resulting in iron overload is through altered hepcidin levels. Treatment of patients with the clinical phenotype of hereditary hemochromatosis is commonly through phlebotomy for removal of excess iron stores. This article highlights the current information and data regarding the diagnosis and management of hemochromatosis. Copyright © 2015 Elsevier Inc. All rights reserved.

Dental health and oral health-related quality of life in children with congenital bleeding disorders.

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Salem, K; Eshghi, P

2013-01-01

The purpose of this study was to investigate the dental and some other aspects of oral health status of young patients with congenital bleeding disorders (CBD) and the impact of these on their quality of life (OHR-QoL) compared with controls. DMFS-dmfs (Decayed, Missed, Filled Tooth surfaces in permanent and primary teeth) scores, Simplified oral hygiene index, occurance of hypoplasia of first permanent molars, Temporomandibular joint dysfunction and occlusion of 46 CBD patients at the age range of 2-15 years and 46 of other children as control were compared, and the impact of their oral health situation on quality of life was also investigated. Data were analysed by chi-square, t-test and Pearson correlation. Patients were significantly more caries-free with less decayed teeth in primary-permanent dentition (P = 0.03, t = -2.17).The mean scores of OHR-QoL of CBD patients and controls were not significantly different. Oral Bleeding was the significant variable in relation to 'oral health-related quality of life' in CBD groups (Pearson correlation, r = -0.56, P = 0.000). OHR-QoL in the control group was related to dmfs score (r = -0.392, P = 0.011) and male gender (r = -0.329, P = 0.026). Congenital bleeding disorder CBD patients were found to have a better dental health situation in primary dentition compared with controls; however, their 'oral health-related quality of life' was similar. Oral bleeding was the only significant factor related to OHR-QoL in CBD. It shows an overall importance of development of comprehensive care centres for CBD as the main cause of this achievement. © 2012 Blackwell Publishing Ltd.

HEREDITARY CONNECTIVE TISSUE DISORDERS: NOMENCLATURE AND DIAGNOSTIC ALGORITHM

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A. V. Klemenov

2015-01-01

Full Text Available Hereditary connective tissue disorders (HCTDs are a genetically and clinically diverse group of diseases, which encompasses common congenital disorders of fibrous connective tissue structures. Out of the whole variety of the clinical manifestations of NCTDs, only differentiated monogenic syndromes with the agreed guidelines for their diagnosis have been long the focus of the medical community’s attention. Many unclassified forms of the pathology (dysplasia phenotypes have been disregarded while assessing a person’s prognosis and defining treatment policy. With no clear definition of NCTDs or their approved diagnostic algorithm, it is difficult to study their real prevalence in the population, to compare literature data, and to constructively discuss various scientific and practical aspects of this disease. Efforts to systematize individual clinical types of NCTD and to formulate their diagnostic criteria are set forth in the All-Russian Research Society Expert Committee national guidelines approved in 2009 and revised in 2012. The paper gives current views on the nomenclature of NCTDs, considers diagnostic criteria for both classified monogenic syndromes (Marfan's syndrome, Ehlers–Danlos' syndrome, MASS phenotype, primary mitral valve prolapse, joint hypermobility syndrome and unclassified dysplasia phenotypes (MASS-like phenotype, marfanoid appearance, Ehlers–Danlos-like phenotype, benign joint hypermobility syndrome, unclassified phenotype. The above abnormalities are presented as a continuous list drawn up in the decreasing order of the degree of their clinical manifestations and prognostic value (the phenotypic continuum described by M.J. Glesby and R.E. Pyentz: from monogenic syndromes through dysplasia phenotypes to an unclassified phenotype. Emphasis is laid on the clinical NCTD identification difficulties associated with the lack of specificity of external and visceral markers of connective tissue asthenia and with the certain

Hereditary hemochromatosis

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Stephen A. Geller

2015-03-01

Full Text Available Hereditary hemochromatosis (HH is the most commonly identified autosomal recessive genetic disorder in the white population, characterized by increased intestinal iron absorption and secondary abnormal accumulation in parenchymal organs, not infrequently accompanied by functional impairment. This entity is associated with mutations of the HFE gene (located on the short arm of chromosome 6 at location 6p22.2; closely linked to the HLA-A3 locus, which encodes the HFE protein, a membrane protein thought to regulate iron absorption by affecting the interaction between transferrin receptor and transferrin.

Hereditary angioedema as a metabolic liver disorder: novel therapeutic options and prospects for cure

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Rohan Ameratuga

2016-11-01

Full Text Available Hereditary angioedema (HAE is a rare autosomal dominant disorder caused by mutations of the SERPING1 or the Factor 12 genes. It is potentially fatal, particularly if not identified at an early stage. Apart from androgens, which are contraindicated in children and in pregnant women, a range of effective, albeit very expensive treatments have recently become available for HAE patients. The cost of these new treatments is beyond the reach of most developing countries. At this time, there is no cure for the disorder. In spite of mutations of the SERPING1 gene, autoimmunity and infections are not prominent features of the condition. Here we present the argument that HAE should be viewed primarily as a metabolic liver disorder. This conceptual paradigm shift will stimulate basic research and may facilitate new therapeutic approaches to HAE outlined in this paper. We suggest several novel potential treatment options for HAE from the perspectives of clinical immunology, molecular biology and liver transplantation. Many of these offer the prospect of curing the disorder. The effectiveness of these options are rapidly improving in many cases and their risks are decreasing. Given the very high costs of treating HAE, some of these curative options may become feasible in the next decade.

Efficiency of laser treatment in patients with hereditary hemorrhagic telangiectasia

DEFF Research Database (Denmark)

Jørgensen, Gita; Lange, Bibi; Wanscher, Jens Højberg

2011-01-01

Earlier studies have shown the effect of laser treatment on epistaxis in patients with hereditary hemorrhagic telangiectasia (HHT). At the present time, only very few prospective trials have been performed, and many studies are based on patients' subjective assessment of the severity of epistaxis....... This prospective study measures the objective effect of laser treatment in HHT patients with mild to moderate epistaxis. We introduce an objective measure to assess the severity of epistaxis: the bleeding time (BT). Before and after treatment, the quality of life, as measured by the patient, was assessed...

Autologous plasma rich in growth factors in the prevention of severe bleeding after teeth extractions in patients with bleeding disorders: a controlled comparison with fibrin glue

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Cocero, Nadia; Pucci, Fabrizio; Messina, Maria; Pollio, Berardino; Mozzati, Marco; Bergamasco, Laura

2015-01-01

Background Dental extractions in haemophiliacs may cause secondary bleeding, requiring repeated surgical and haematological interventions. As a local haemostatic, fibrin glue has recognised efficacy but, as a plasma-derived product, it carries the risk of viral infections. We, therefore, compared fibrin glue with an autologous haemostatic, plasma rich in growth factors (PRGF), in a controlled trial. Material and methods One hundred and twenty patients with different blood disorders were randomised into two cohorts to undergo dental extraction procedures without hospitalisation. Prior to the extractions, patients underwent systemic haematological treatment. Complications were defined as secondary bleeding after the 7-day follow-up period or protracting after the repair procedure. Results There were 106 extractions (7 retained 3rd molars) in the group managed with fibrin glue: secondary bleeding affected 3/60 patients (5%) on the third day after extraction and necessitated additional surgery and systemic treatment (in one case the procedure had to be repeated on the 7th day). In the PRGF arm there were 98 extractions (23 retained 3rd molars): secondary bleeding affected two patients (3.3%) on the first day after extraction and was arrested with surgery without systemic treatment. Four out of the five secondary bleeds occurred in patients with haemophilia A. Concomitant diabetes or liver disease significantly increased the bleeding risk. Discussion The bleeding rates in the study and control arm prove that PRGF works as well as fibrin glue as a local haemostatic. Further assets are that PRGF has autologous origin, does not require additional systemic treatment in post-extraction repair surgery, is associated with an earlier onset of neo-angiogenesis and, overall, can reduce patients’ distress and costs to the health system. PMID:25369587

Bleeding and Blood Disorders in Clients of Voluntary Medical Male Circumcision for HIV Prevention - Eastern and Southern Africa, 2015-2016.

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Hinkle, Lawrence E; Toledo, Carlos; Grund, Jonathan M; Byams, Vanessa R; Bock, Naomi; Ridzon, Renee; Cooney, Caroline; Njeuhmeli, Emmanuel; Thomas, Anne G; Odhiambo, Jacob; Odoyo-June, Elijah; Talam, Norah; Matchere, Faustin; Msungama, Wezi; Nyirenda, Rose; Odek, James; Come, Jotamo; Canda, Marcos; Wei, Stanley; Bere, Alfred; Bonnecwe, Collen; Choge, Isaac Ang'Ang'A; Martin, Enilda; Loykissoonlal, Dayanund; Lija, Gissenge J I; Mlanga, Erick; Simbeye, Daimon; Alamo, Stella; Kabuye, Geoffrey; Lubwama, Joseph; Wamai, Nafuna; Chituwo, Omega; Sinyangwe, George; Zulu, James Exnobert; Ajayi, Charles A; Balachandra, Shirish; Mandisarisa, John; Xaba, Sinokuthemba; Davis, Stephanie M

2018-03-23

Male circumcision reduces the risk for female-to-male human immunodeficiency virus (HIV) transmission by approximately 60% (1) and has become a key component of global HIV prevention programs in countries in Eastern and Southern Africa where HIV prevalence is high and circumcision coverage is low. Through September 2017, the President's Emergency Plan for AIDS Relief (PEPFAR) had supported 15.2 million voluntary medical male circumcisions (VMMCs) in 14 priority countries in Eastern and Southern Africa (2). Like any surgical intervention, VMMC carries a risk for complications or adverse events. Adverse events during circumcision of males aged ≥10 years occur in 0.5% to 8% of procedures, though the majority of adverse events are mild (3,4). To monitor safety and service quality, PEPFAR tracks and reports qualifying notifiable adverse events. Data reported from eight country VMMC programs during 2015-2016 revealed that bleeding resulting in hospitalization for ≥3 days was the most commonly reported qualifying adverse event. In several cases, the bleeding adverse event revealed a previously undiagnosed or undisclosed bleeding disorder. Bleeding adverse events in men with potential bleeding disorders are serious and can be fatal. Strategies to improve precircumcision screening and performance of circumcisions on clients at risk in settings where blood products are available are recommended to reduce the occurrence of these adverse events or mitigate their effects (5).

Is dilatation and curettage obsolete for diagnosing intrauterine disorders in premenopausal patients with persistent abnormal uterine bleeding?

NARCIS (Netherlands)

Emanuel, M. H.; Wamsteker, K.; Lammes, F. B.

1997-01-01

To determine the predictive value of dilatation and curettage (D&C) for diagnosing intrauterine disorders in patients with persistent abnormal uterine bleeding. An observational descriptive study was performed in a large university-affiliated teaching hospital. The suspicion of intrauterine

Canine models of inherited bleeding disorders in the development of coagulation assays, novel protein replacement and gene therapies.

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Nichols, T C; Hough, C; Agersø, H; Ezban, M; Lillicrap, D

2016-05-01

Animal models of inherited bleeding disorders are important for understanding disease pathophysiology and are required for preclinical assessment of safety prior to testing of novel therapeutics in human and veterinary medicine. Experiments in these animals represent important translational research aimed at developing safer and better treatments, such as plasma-derived and recombinant protein replacement therapies, gene therapies and immune tolerance protocols for antidrug inhibitory antibodies. Ideally, testing is done in animals with the analogous human disease to provide essential safety information, estimates of the correct starting dose and dose response (pharmacokinetics) and measures of efficacy (pharmacodynamics) that guide the design of human trials. For nearly seven decades, canine models of hemophilia, von Willebrand disease and other inherited bleeding disorders have not only informed our understanding of the natural history and pathophysiology of these disorders but also guided the development of novel therapeutics for use in humans and dogs. This has been especially important for the development of gene therapy, in which unique toxicities such as insertional mutagenesis, germ line gene transfer and viral toxicities must be assessed. There are several issues regarding comparative medicine in these species that have a bearing on these studies, including immune reactions to xenoproteins, varied metabolism or clearance of wild-type and modified proteins, and unique tissue tropism of viral vectors. This review focuses on the results of studies that have been performed in dogs with inherited bleeding disorders that closely mirror the human condition to develop safe and effective protein and gene-based therapies that benefit both species. © 2016 International Society on Thrombosis and Haemostasis.

Recommendations regarding splenectomy in hereditary hemolytic anemias

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Iolascon, Achille; Andolfo, Immacolata; Barcellini, Wilma; Corcione, Francesco; Garçon, Loïc; De Franceschi, Lucia; Pignata, Claudio; Graziadei, Giovanna; Pospisilova, Dagmar; Rees, David C.; de Montalembert, Mariane; Rivella, Stefano; Gambale, Antonella; Russo, Roberta; Ribeiro, Leticia; Vives-Corrons, Jules; Martinez, Patricia Aguilar; Kattamis, Antonis; Gulbis, Beatrice; Cappellini, Maria Domenica; Roberts, Irene; Tamary, Hannah

2017-01-01

Hereditary hemolytic anemias are a group of disorders with a variety of causes, including red cell membrane defects, red blood cell enzyme disorders, congenital dyserythropoietic anemias, thalassemia syndromes and hemoglobinopathies. As damaged red blood cells passing through the red pulp of the spleen are removed by splenic macrophages, splenectomy is one possible therapeutic approach to the management of severely affected patients. However, except for hereditary spherocytosis for which the effectiveness of splenectomy has been well documented, the efficacy of splenectomy in other anemias within this group has yet to be determined and there are concerns regarding short- and long-term infectious and thrombotic complications. In light of the priorities identified by the European Hematology Association Roadmap we generated specific recommendations for each disorder, except thalassemia syndromes for which there are other, recent guidelines. Our recommendations are intended to enable clinicians to achieve better informed decisions on disease management by splenectomy, on the type of splenectomy and the possible consequences. As no randomized clinical trials, case control or cohort studies regarding splenectomy in these disorders were found in the literature, recommendations for each disease were based on expert opinion and were subsequently critically revised and modified by the Splenectomy in Rare Anemias Study Group, which includes hematologists caring for both adults and children. PMID:28550188

Intracranial Hemorrhage: A Devastating Outcome of Congenital Bleeding Disorders-Prevalence, Diagnosis, and Management, with a Special Focus on Congenital Factor XIII Deficiency.

Science.gov (United States)

Alavi, Seyed Ezatolla Rafiee; Jalalvand, Masumeh; Assadollahi, Vahideh; Tabibian, Shadi; Dorgalaleh, Akbar

2018-04-01

Intracranial hemorrhage (ICH) is a medical emergency. In congenital bleeding disorders, ICH is a devastating presentation accompanied with a high rate of morbidity and mortality. The prevalence of ICH is highly variable among congenital bleeding disorders, with the highest incidence observed in factor (F) XIII deficiency (FXIIID) (∼30%). This life-threatening presentation is less common in afibrinogenemia, FVIII, FIX, FVII, and FX deficiencies, and is rare in severe FV and FII deficiencies, type 3 von Willebrand disease and inherited platelet function disorders (IPFDs). In FXIIID, this diathesis most often occurs after trauma in children, whereas spontaneous ICH is more frequent in adults. About 15% of patients with FXIIID and ICH die; the bleeding causes 80% of deaths in this coagulopathy. Although in FXIIID, the bleed most commonly is intraparenchymal (> 90%), epidural, subdural, and subarachnoid hemorrhages also have been reported, albeit rarely. As this life-threatening bleeding causes neurological complications, early diagnosis can prevent further expansion of the hematoma and secondary damage. Neuroimaging plays a crucial role in the diagnosis of ICH, but signs and symptoms in patients with severe FXIIID should trigger replacement therapy even before establishment of the diagnosis. Although a high dose of FXIII concentrate can reduce the rate of morbidity and mortality of ICH in FXIIID, it may occasionally trigger inhibitor development, thus complicating ICH management and future prophylaxis. Nevertheless, replacement therapy is the mainstay of treatment for ICH in FXIIID. Neurosurgery is performed in patients with FXIIID and epidural hematoma and a hemorrhage diameter exceeding 2 cm or a volume of ICH is more than 30 cm 3 . Contact sports are not recommended in people with FXIIID as they can elicit ICH. However, a considerable number of safe sports and activities have been suggested to have more benefits than dangers for patients with congenital bleeding

Bleeding Episodes Among Patients with Congenital Fibrinogen Disorders, a Study On 12 New Iranian Patients

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Majid Naderi

2018-01-01

Full Text Available Background: Congenital fibrinogen disorders (CFDs comprise about 10% of rare bleeding disorders (RBDs. CFDs are divided into two groups of quantitative (afibrinogenemia and hypofibrinogenemia with autosomal recessive inheritance pattern, and qualitative (dysfibrinogenemia, hypodysfibrogenemia disorders, mainly with autosomal dominant inheritance pattern. Sistan and Baluchestan Province in Iran, with its high rate of consanguineous marriages, has a high incidence of RBDs including CFD. In the current study, we report clinical manifestations of patients with CFDs.Methods: Twelve new Iranian patients from Sistan and Baluchestan Province with different types of CFDs were selected for this study. Diagnosis of CFDs was based on clinical features and familial history followed by laboratory assessment by routine and specific coagulation tests including prothrombin time (PT and activated partial time tests (APTT, as well as FI activity assay by Clauss method.Results: Out of 12 patients, 3(25% had afibrinogenemia, 7(58.3% had hypofibrinogenemia while 2(16/7% were suspected of having dysfibrinogenemia. Although umbilical cord bleeding (UCB 9(75% was the most common clinical presentation among the study population, this feature was not observed among patients with dysfibrinogenemia. Hematoma (100% was the most common presentation of patients with dysfibrinogenemia.  Conclusion: Results of this study revealed that some clinical presentations are the diagnostic features of CFDs and can be used for precise and in-time diagnosis CFDs in conjunction with family history and laboratory findings.Keywords: Fibrinogen Deficiency; Congenital Afibrinogenemia; Blood Coagulation Disorder; Afibrinogenemia

Hereditary Diffuse Gastric Cancer

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... Hereditary Diffuse Gastric Cancer Request Permissions Hereditary Diffuse Gastric Cancer Approved by the Cancer.Net Editorial Board , 10/2017 What is hereditary diffuse gastric cancer? Hereditary diffuse gastric cancer (HDGC) is a rare ...

[Hereditary motor and sensory Lom-neuropathy--first Hungarian case report].

Science.gov (United States)

Szabó, Antal; Siska, Eva; Molnár, Mária Judit

2007-01-20

Hereditary motor and sensory neuropathy-Lom is an autosomal recessive disorder of the peripheral nervous system, which occurs only in the european Roma population. The symptoms start in the first decade with slowly progressive gait disturbance, weakness and wasting of distal upper extremity muscles, joint deformities and hearing loss develop later in the second and third decades. This disorder is caused by a homozygous missense mutation of the NDRG1 gene, located in the 8q24 region. The Schwann cell dysfunction is most probably caused by altered lipid metabolism as a consequence of the NDRG1 mutation. Molecular genetic testing can be a first diagnostic step among roma individuals showing a Lom neuropathy phenotype, making evaluation of such patients and also genetic counselling faster and easier. Screening for hereditary neuromuscular disorders in this genetically isolated community may become an important public health issue in the near future.

Bone scintigraphy in hereditary multiple exostoses

International Nuclear Information System (INIS)

Epstein, D.A.; Levin, E.J.

1978-01-01

Two adult patients with multiple hereditary exostoses, a skeletal disorder with recognized malignant potential, each demonstrated increased /sup 99m/Tc diphosphonate uptake in an exostosis in which renewed growth had begun. None of the other multiple exostoses in either patient showed abnormal uptake. Histologic study of the lesions demonstrated chondrosarcoma in one case and benign osteochondroma in the second. Although bone scintigraphy nonspecifically identifies bone growth rather than malignant degeneration, it is more useful than radiographic bone survey in the periodic surveillance of adult patients with this disorder

Clinicoelectrophysiologic and magnetoresonance and tomographic investigation of hereditary and congenital diseases of the brain

International Nuclear Information System (INIS)

Kamalov, I.I.; Pikuza, O.I.; Idrisova, L.G.; Uryvskij, V.I.

1996-01-01

The combined investigation of hereditary and congenital diseases of the brain using magnetoresonance tomography is performed. The hereditary and congenital diseases of the brain accompanied by disorders of liquoroconductive tracts with medullary substance lesion are revealed. The investigation results provide timely development of the treatment tactics and rehabilitation of sick children. Refs. 3

Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era

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Jamie eMcDonald

2015-01-01

Full Text Available Hereditary hemorrhagic telangiectasia (HHT is a vascular dysplasia characterized by telangiectases and arteriovenous malformations (AVMs in particular locations described in consensus clinical diagnostic criteria published in 2000. Two genes in the transforming growth factor-beta (TGF-β signaling pathway, ENG and ACVRL1, were discovered almost two decades ago, and mutations in these genes have been reported to cause up to 85% of HHT. In our experience, approximately 96% of individuals with HHT have a mutation in these two genes, when published (Curaçao diagnostic criteria for HHT are strictly applied. More recently, two additional genes in the same pathway, SMAD4 and GDF2, have been identified in a much smaller number of patients with a similar or overlapping phenotype to HHT. Yet families still exist with compelling evidence of a hereditary telangiectasia disorder, but no identifiable mutation in a known gene. Recent availability of whole exome and genome testing has created new opportunities to facilitate gene discovery, identify genetic modifiers to explain clinical variability, and potentially define an increased spectrum of hereditary telangiectasia disorders. An expanded approach to molecular diagnostics for inherited telangiectasia disorders that incorporates a multi-gene next generation sequencing (NGS HHT panel is proposed.

No increased systemic fibrinolysis in women with heavy menstrual bleeding

NARCIS (Netherlands)

Wiewel-Verschueren, S.; Knol, H. M.; Lisman, T.; Bogchelman, D. H.; Kluin-Nelemans, J. C.; van der Zee, A.G.J.; Mulder, A.B.; Meijer, K.

BackgroundBleeding disorders have been recognized as important etiologic or contributory factors in women with heavy menstrual bleeding. Fibrinolysis in the endometrium plays a role in heavy menstrual bleeding. It is unknown whether increased systemic fibrinolysis might also increase the risk of

Pes cavus and hereditary neuropathies: when a relationship should be suspected.

Science.gov (United States)

Piazza, S; Ricci, G; Caldarazzo Ienco, E; Carlesi, C; Volpi, L; Siciliano, G; Mancuso, M

2010-12-01

The hereditary peripheral neuropathies are a clinically and genetically heterogeneous group of diseases of the peripheral nervous system. Foot deformities, including the common pes cavus, but also hammer toes and twisting of the ankle, are frequently present in patients with hereditary peripheral neuropathy, and often represent one of the first signs of the disease. Pes cavus in hereditary peripheral neuropathies is caused by imbalance between the intrinsic muscles of the foot and the muscles of the leg. Accurate clinical evaluation in patients with pes cavus is necessary to exclude or confirm the presence of peripheral neuropathy. Hereditary peripheral neuropathies should be suspected in those cases with bilateral foot deformities, in the presence of family history for pes cavus and/or gait impairment, and in the presence of neurological symptoms or signs, such as distal muscle hypotrophy of limbs. Herein, we review the hereditary peripheral neuropathies in which pes cavus plays a key role as a "spy sign," discussing the clinical and molecular features of these disorders to highlight the importance of pes cavus as a helpful clinical sign in these rare diseases.

Atrial fibrillation in patients with severe mental disorders and the risk of stroke, fatal thromboembolic events and bleeding

DEFF Research Database (Denmark)

Søgaard, Mette; Skjøth, Flemming; Kjældgaard, Jette Nordstrøm

2017-01-01

: Denmark (population 5.6 million), 2000-2015. PARTICIPANTS: Patients with AF with schizophrenia (n=534), severe depression (n=400) or bipolar disease (n=569) matched 1:5 on age, sex and calendar time to patients with AF without mental disorders. EXPOSURE: Inpatient or hospital-based outpatient diagnosis...... of schizophrenia, severe depression or bipolar disease. PRIMARY AND SECONDARY OUTCOME MEASURES: HRs for stroke, fatal thromboembolic events and major bleeding comparing patients with and without mental disorders estimated by Cox regression with sequential adjustment for risk factors for stroke and bleeding......, comorbidity and initiation of oral anticoagulant therapy (OAT). RESULTS: Compared with matched comparisons, crude 5-year HRs of ischaemic stroke were 1.37 (95% CI 0.88 to 2.14) for schizophrenia, 1.36 (95% CI 0.89 to 2.08) for depression and 1.04 (95% CI 0.69 to 1.56) for bipolar disease. After adjusting...

Hereditary hemorrhagic telangiectasia with bilateral pulmonary vascular malformations: A case report

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Lončarević Olivera

2016-01-01

Full Text Available Introduction. Hereditary hemorrhagic telangiectasia (HHT also known as Osler-Weber-Rendu syndrome is an autosomal dominant disease that occurs due to vascular dysplasia associated with the disorder in the signaling pathway of transforming growth factor β (TGF-β. The clinical consequence is a disorder of blood vessels in multiple organ systems with the existence of telangiectasia which causes dilation of capillaries and veins, are present from birth and are localized on the skin and mucosa of the mouth, respiratory, gastrointestinal and urinary tract. They can make a rupture with consequent serious bleeding that can end up with fatal outcome. Since there is a disruption of blood vessels of more than one organic system, the diagnosis is very complex and requires a multidisciplinary approach. Case report. We reported a 40-year-old female patient with a long-time evolution of problems, who was diagnosed and treated at the Clinic for Lung Diseases of the Military Medical Academy in Belgrade, Serbia, because of bilaterally pulmonary arteriovenous malformations associated with HHT. Embolization was performed in two acts, followed with normalization of clinical, radiological and functional findings with the cessation of hemoptysis, effort intolerance with a significant improvement of the quality of life. Conclusion. HHT is a rare dominant inherited multisystem disease that requires multidisciplinary approach to diagnosis and treatment. Embolization is the method of choice in the treatment of arteriovenous malformations with minor adverse effects and very satisfying therapeutic effect.

Evidence supporting the use of recombinant activated factor VII in congenital bleeding disorders

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Pär I Johansson

2010-06-01

Full Text Available Pär I Johansson, Sisse R OstrowskiCapital Region Blood Bank, Section for Transfusion Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, DenmarkBackground: Recombinant activated factor VII (rFVIIa, NovoSeven® was introduced in 1996 for the treatment of hemophilic patients with antibodies against coagulation factor VIII or IX.Objective: To review the evidence supporting the use of rFVIIa for the treatment of patients with congenital bleeding disorders.Patients and methods: English-language databases were searched in September 2009 for reports of randomized controlled trials (RCTs evaluating the ability of rFVIIa to restore hemostasis in patients with congenital bleeding disorders.Results: Eight RCTs involving 256 hemophilic patients with antibodies against coagulation factors, also known as inhibitors, were identified. The evidence supporting the use of rFVIIa in these patients was weak with regard to dose, clinical setting, mode of administration, efficacy, and adverse events, given the limited sample size of each RCT and the heterogeneity of the studies.Conclusion: The authors suggest that rFVIIa therapy in hemophilic patients with inhibitors should be based on the individual’s ability to generate thrombin and form a clot, and not on the patient’s weight alone. Therefore, assays for thrombin generation, such as whole-blood thromboelastography, have the potential to significantly improve the treatment of these patients.Keywords: hemophilia, inhibitors, coagulation factor VIII, coagulation factor IX, rFVIIa, NovoSeven, FEIBA, hemostasis, RCT

An ABC of the Warning Signs of Hereditary Angioedema

DEFF Research Database (Denmark)

Grumach, Anete Sevciovic; Ferraroni, Natasha; Olivares, Maria Margarita

2017-01-01

Hereditary angioedema (HAE) with C1 inhibitor deficiency is a genetic disorder that clinically manifests with attacks of angioedema in the subcutaneous and submucosal tissues, mainly in the extremities, abdomen, and upper airway. During attacks, vascular permeability is increased due to increased...

[Molecular genetic diagnostics and screening of hereditary hemochromatosis].

Science.gov (United States)

Zlocha, J; Kovács, L; Pozgayová, S; Kupcová, V; Durínová, S

2006-06-01

Hereditary hemochromatosis is considered one of the most common hereditary diseases in population of Caucasian origin. In recent years, a candidate gene for HLA-linked hemochromatosis, HFE, has been cloned, and a single G-to-A mutation resulting in a cysteine-to-tyrosine substitution (C282Y) has been identified in up to 80% of study patients with type 1 hereditary hemochromatosis. The purpose of the paper was to confirm the importance of genetic testing for HFE mutations in making the diagnosis of hemochromatosis and find out a suitable diagnostic algorithm for the indication of this form of diagnostics in patients suspected of hereditary hemochromatosis. The examination of C282Y mutation was conducted in 500 subjects. The most frequent indications for DNA analysis were hepatopathy of unknown ethiology, liver cirrhosis, diabetes mellitus, bronze skin pigmentation in connection with high serum iron concentration, elevated transferrin saturation and elevated serum ferritin levels. In our group of patients, 29 homozygotes and 75 heterozygotes for C282Y mutation were identified, 10 patients carried both C282Y and H63D mutations of HFE gene (compound heterozygotes), whereas in 386 subjects the mutation was not found. The genotype-phenotype correlation showed that 22 homozygotes had liver affection proved by imaging and/or histologic methods. Except the liver disorders, the most common symptoms of these patients were type 2 diabetes mellitus or glucose tolerance disorder (10 patients), arthritis or joint pain (9 patients) and cardiovascular disorders, such as cardiomyopathy (2 patients). Bronze skin pigmentation was present in 9 homozygotes. Transferin saturation values were significantly higher in homozygotes for C282Y mutation as compared to C282Y heterozygotes (p diagnostics of this severe, but in early recognition curable disease. Early detection and phlebotomy treatment prior to the onset of cirrhosis can reduce morbidity and normalize life expectancy. It is readily

Diagnosis and management of adult hereditary cardio-neuromuscular disorders: A model for the multidisciplinary care of complex genetic disorders.

Science.gov (United States)

Sommerville, R Brian; Vincenti, Margherita Guzzi; Winborn, Kathleen; Casey, Anne; Stitziel, Nathan O; Connolly, Anne M; Mann, Douglas L

2017-01-01

Genetic disorders that disrupt the structure and function of the cardiovascular system and the peripheral nervous system are common enough to be encountered in routine cardiovascular practice. Although often these patients are diagnosed in childhood and come to the cardiologist fully characterized, some patients with hereditary neuromuscular disease may not manifest until adulthood and will present initially to the adult cardiologist for an evaluation of an abnormal ECG, unexplained syncope, LV hypertrophy, and or a dilated cardiomyopathy of unknown cause. Cardiologists are often ill-equipped to manage these patients due to lack of training and exposure as well as the complete absence of practice guidelines to aid in the diagnosis and management of these disorders. Here, we review three key neuromuscular diseases that affect the cardiovascular system in adults (myotonic dystrophy type 1, Friedreich ataxia, and Emery-Dreifuss muscular dystrophy), with an emphasis on their clinical presentation, genetic and molecular pathogenesis, and recent important research on medical and interventional treatments. We also advocate the development of interdisciplinary cardio-neuromuscular clinics to optimize the care for these patients. Copyright © 2016 Elsevier Inc. All rights reserved.

Sporadic diffuse segmental interstitial cell of Cajal hyperplasia harbouring two gastric gastrointestinal stromal tumours (GIST mimicking hereditary GIST syndromes

Directory of Open Access Journals (Sweden)

Mafalda Costa Neves

2015-01-01

Conclusion: We describe a diffuse form of sporadic ICC hyperplasia harbouring multifocal GISTs, mimicking diffuse ICC hyperplasia in hereditary GIST syndromes. Detection of somatic c-KIT exon 11 mutation ruled out a hereditary disorder.

RECRUITMENT OF PATIENTS WITH HEREDITARY HAEMOCHROMATOSIS AS BLOOD DONORS

Directory of Open Access Journals (Sweden)

Marko Cukjati

2004-12-01

Full Text Available Background. Hereditary haemochromatosis is the most common inherited disorder in white persons with prevalence of about 1 in 200. Therapeutic phlebotomy is an effective treatment for the disease and prevents its sequele. In addition to their altruism, patients with hereditary haemochromatosis have also medical and monetary incentives for blood donation. Current guidelines do not allow haemochromatosis patients to donate blood. About two thirds of patients are eligible as blood donors and about two thirds of therapeutically drawn blood is suitable for transfusion. Therapeutically drawn blood could increase the blood supply by 1.5 to 30%.Conclusions. The number of states that already accept patients with hereditary haemochromatosis as blood donors is increasing. To avoid monetary incentives they offer free phlebotomies for all patients with hereditary haemochromatosis. There have been no reports about higher incidence of transfusion reactions. In Slovenia the number of therapeutic phlebotomy is increasing. We should evaluate the possibilities for recruitment of haemochromatosis patients as blood donors also in our country. It is necessary to modify regulatory restrictions and to ensure that there is no other incentives than altruism for blood donation.

On the many faces of Leber hereditary optic neuropathy

NARCIS (Netherlands)

Oostra, RJ; Tijmes, NT; Cobben, JM; Bolhuis, PA; vanNesselrooij, BPM; Houtman, WA; deKokNazaruk, MM; BleekerWagemakers, EM

Leber hereditary optic neuropathy (LHON) is a maternally inherited disorder, associated with mutations in the mitochondrial DNA, which is notorious for its aspecific presentations. Two pedigrees are described with cases that are atypical for LHON with respect to sex, age of onset, interval between

On the many faces of Leber hereditary optic neuropathy

NARCIS (Netherlands)

Oostra, R. J.; Tijmes, N. T.; Cobben, J. M.; Bolhuis, P. A.; van Nesselrooij, B. P.; Houtman, W. A.; de Kok-Nazaruk, M. M.; Bleeker-Wagemakers, E. M.

1997-01-01

Leber hereditary optic neuropathy (LHON) is a maternally inherited disorder, associated with mutations in the mitochondrial DNA, which is notorious for its aspecific presentations. Two pedigrees are described with cases that are atypical for LHON with respect to sex, age of onset, interval between

Cellular Pathways of Hereditary Spastic Paraplegia*

OpenAIRE

Blackstone, Craig

2012-01-01

Human voluntary movement is controlled by the pyramidal motor system, a long CNS pathway comprising corticospinal and lower motor neurons. Hereditary spastic paraplegias (HSPs) are a large, genetically diverse group of inherited neurologic disorders characterized by a length-dependent distal axonopathy of the corticospinal tracts, resulting in lower limb spasticity and weakness. A range of studies are converging on alterations in the shaping of organelles, particularly the endoplasmic reticul...

Autosomal dominant hereditary ataxia in Sri Lanka

OpenAIRE

Sumathipala, Dulika S; Abeysekera, Gayan S; Jayasekara, Rohan W; Tallaksen, Chantal ME; Dissanayake, Vajira HW

2013-01-01

Background Spinocerebellar ataxias (SCA) are a group of hereditary neurodegenerative disorders. Prevalence of SCA subtypes differ worldwide. Autosomal dominant ataxias are the commonest types of inherited ataxias seen in Sri Lanka. The aim of the study is to determine the genetic etiology of patients with autosomal dominant ataxia in Sri Lanka and to describe the clinical features of each genetic subtype. Methods ...

Alterations of red blood cell metabolome in overhydrated hereditary stomatocytosis.

NARCIS (Netherlands)

Darghouth, D.; Koehl, B.; Heilier, J.F.; Madalinski, G.; Bovee, P.H.; Bosman, G.J.C.G.M.; Delaunay, J.; Junot, C.; Romeo, P.H.

2011-01-01

Overhydrated hereditary stomatocytosis, clinically characterized by hemolytic anemia, is a rare disorder of the erythrocyte membrane permeability to monovalent cations, associated with mutations in the Rh-associated glycoprotein gene. We assessed the red blood cell metabolome of 4 patients with this

Hereditary spastic paraplegia.

Science.gov (United States)

Blackstone, Craig

2018-01-01

The hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurologic disorders with the common feature of prominent lower-extremity spasticity, resulting from a length-dependent axonopathy of corticospinal upper motor neurons. The HSPs exist not only in "pure" forms but also in "complex" forms that are associated with additional neurologic and extraneurologic features. The HSPs are among the most genetically diverse neurologic disorders, with well over 70 distinct genetic loci, for which about 60 mutated genes have already been identified. Numerous studies elucidating the molecular pathogenesis underlying HSPs have highlighted the importance of basic cellular functions - especially membrane trafficking, mitochondrial function, organelle shaping and biogenesis, axon transport, and lipid/cholesterol metabolism - in axon development and maintenance. An encouragingly small number of converging cellular pathogenic themes have been identified for the most common HSPs, and some of these pathways present compelling targets for future therapies. Copyright © 2018 Elsevier B.V. All rights reserved.

Perimenopausal Bleeding and Bleeding After Menopause

Science.gov (United States)

... Patients About ACOG Perimenopausal Bleeding and Bleeding After Menopause Home For Patients Search FAQs Perimenopausal Bleeding and ... 2011 PDF Format Perimenopausal Bleeding and Bleeding After Menopause Gynecologic Problems What are menopause and perimenopause? What ...

Impairment of autophagy: From hereditary disorder to drug intoxication

International Nuclear Information System (INIS)

Aki, Toshihiko; Funakoshi, Takeshi; Unuma, Kana; Uemura, Koichi

2013-01-01

At first, the molecular mechanism of autophagy was unveiled in a unicellular organism Saccharomyces cerevisiae (budding yeast), followed by the discovery that the basic mechanism of autophagy is conserved in multicellular organisms including mammals. Although autophagy was considered to be a non-selective bulk protein degradation system to recycle amino acids during periods of nutrient starvation, it is also believed to be an essential mechanism for the selective elimination of proteins/organelles that are damaged under pathological conditions. Research advances made using autophagy-deficient animals have revealed that impairments of autophagy often underlie the pathogenesis of hereditary disorders such as Danon, Parkinson's, Alzheimer's, and Huntington's diseases, and amyotrophic lateral sclerosis. On the other hand, there are many reports that drugs and toxicants, including arsenic, cadmium, paraquat, methamphetamine, and ethanol, induce autophagy during the development of their toxicity on many organs including heart, brain, lung, kidney, and liver. Although the question as to whether autophagic machinery is involved in the execution of cell death or not remains controversial, the current view of the role of autophagy during cell/tissue injury is that it is an important, often essential, cytoprotective reaction; disturbances in cytoprotective autophagy aggravate cell/tissue injuries. The purpose of this review is to provide (1) a gross summarization of autophagy processes, which are becoming more important in the field of toxicology, and (2) examples of important studies reporting the involvement of perturbations in autophagy in cell/tissue injuries caused by acute as well as chronic intoxication

Current problems in haematology. 2: Hereditary spherocytosis.

OpenAIRE

Smedley, J C; Bellingham, A J

1991-01-01

Hereditary spherocytosis is a relatively common haematological disorder and will be encountered by all haematologists. The abundance of new information, dealing principally with molecular and genetic aspects of pathophysiology, is beginning to have implications for its investigation and management. While these advances have not yet exerted a large influence at therapeutic level, the promise of such advents as prenatal diagnosis make this an exciting field to watch.

Multimodality imaging features of hereditary multiple exostoses

OpenAIRE

Kok, H K; Fitzgerald, L; Campbell, N; Lyburn, I D; Munk, P L; Buckley, O; Torreggiani, W C

2013-01-01

Hereditary multiple exostoses (HME) or diaphyseal aclasis is an inherited disorder characterised by the formation of multiple osteochondromas, which are cartilage-capped osseous outgrowths, and the development of associated osseous deformities. Individuals with HME may be asymptomatic or develop clinical symptoms, which prompt imaging studies. Different modalities ranging from plain radiographs to cross-sectional and nuclear medicine imaging studies can be helpful in the diagnosis and detecti...

Genes for hereditary sensory and autonomic neuropathies : a genotype-phenotype correlation

NARCIS (Netherlands)

Rotthier, Annelies; Baets, Jonathan; De Vriendt, Els; Jacobs, An; Auer-Grumbach, Michaela; Levy, Nicolas; Bonello-Palot, Nathalie; Kilic, Sara Sebnem; Weis, Joachim; Nascimento, Andres; Swinkels, Marielle; Kruyt, Moyo C.; Jordanova, Albena; De Jonghe, Peter; Timmerman, Vincent

2009-01-01

Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory and autonomic neurons. So far, disease-associated mutations have been identified in seven

Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case report

Directory of Open Access Journals (Sweden)

Luciano Mesquita Simão

2012-08-01

Full Text Available Neuromyelitis optica antibody (or aquaporin-4 antibody is a well stablished serum marker associated to high-risk neuromyelitis optica syndrome that presents as an inflammatory demyelinating disease characterized by the occurrence of bilateral and simultaneous optic neuritis without complete visual recovery or it occurs as an isolated episode of transverse myelitis accompanied by longitudinally extensive spinal cord lesions. On the other hand, Leber hereditary optic neuropathy is a primarily hereditary disorder that affects all tissues of the body and its clinical presentation is tissue-specific for the optic nerve and, eventually, it might reach the spinal cord. Overlapping clinical features of neuromyelitis optica and Leber hereditary optic neuropathy may suggest common target organ diseases. The case report described herein emphasizes the coexistence of serum markers of both diseases, and suggests that further investigation of this challenging clinical presentation is warranted to confirm or rule out this association.

Converging cellular themes for the hereditary spastic paraplegias.

Science.gov (United States)

Blackstone, Craig

2018-05-10

Hereditary spastic paraplegias (HSPs) are neurologic disorders characterized by prominent lower-extremity spasticity, resulting from a length-dependent axonopathy of corticospinal upper motor neurons. They are among the most genetically-diverse neurologic disorders, with >80 distinct genetic loci and over 60 identified genes. Studies investigating the molecular pathogenesis underlying HSPs have emphasized the importance of converging cellular pathogenic themes in the most common forms of HSP, providing compelling targets for therapy. Most notably, these include organelle shaping and biogenesis as well as membrane and cargo trafficking. Published by Elsevier Ltd.

Genetics Home Reference: hereditary pancreatitis

Science.gov (United States)

... Facebook Twitter Home Health Conditions Hereditary pancreatitis Hereditary pancreatitis Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Hereditary pancreatitis is a genetic condition characterized by recurrent episodes ...

Diagnosis of Lynch Syndrome: Genetic Testing Identifies a Potentially Deadly Hereditary Disease

Science.gov (United States)

... of Lynch Syndrome Follow us A Diagnosis of Lynch Syndrome Genetic testing identifies a potentially deadly hereditary disease ... helped Jack learn what was wrong. Jack had Lynch Syndrome—an inherited disorder. Lynch Syndrome increases the risk ...

Hereditary syndromes with enhanced radiosensitivity

International Nuclear Information System (INIS)

Lohmann, D.

2000-01-01

Sensitivity to ionizing radiation is modified by heritable genetic factors. This is exemplified by heritable disorders that are characterized by predisposition to the development of neoplasms. Cells derived from patients with ataxia telangiectasia, Nijmegen breakage syndrome and ataxia telangiektasia-like disorder show a markedly changed reaction to exposure to ionizing radiation. Correspondingly, at least in patients with ataxia telangiectasia, an enhanced radiosensitivity that is of clinical importance has been observed. In addition to these recessive disorders, some autosomal dominant cancer predisposition syndromes are associated with increased radiosensitivity. As cells from these patients still have a normal allele (that is dominant over the mutant allele), the cellular phenotype is most often normal. Specifically, there is no overtly altered reaction in response to ionizing radiation. Nevertheless, two dominant cancer predisposition syndromes, namely hereditary retinoblastoma and naevoid basal cell carcinoma syndrome, are associated with a enhanced radiosensitivity as indicated by increased development of tumors following radiation therapy. (orig.) [de

Pseudoxanthoma elasticum: A rare cause of gastrointestinal bleed

Directory of Open Access Journals (Sweden)

Ishrat H Dar

2015-01-01

Full Text Available Causes of obscure gastrointestinal (GI bleed are diverse and rare. The most common cause for GI bleeding of small bowel origin is angiodysplasia, followed by tumors of the small intestine, and various other causes, including small bowel ulcers and aortienteric fistulas. Pseudoxanthoma elasticum (PXE is a rare cause of GI bleed. It is an inherited elastic tissue disorder with degeneration of elastic fibers involving mainly skin, eyes and the cardiovascular system. Upper GI hemorrhage occurs in 13% of cases and is often resistant to nonsurgical methods of treatment. Presented herein is a case of GI bleed in a 65-year-old woman who had PXE and hyperplastic polyps in the stomach.

Combined pulmonary involvement in hereditary lysozyme amyloidosis with associated pulmonary sarcoidosis: a case report.

Science.gov (United States)

McCarthy, Cormac; Deegan, Alexander P; Garvey, John F; McDonnell, Timothy J

2013-12-17

Sarcoidosis is a multisystem inflammatory disorder of unknown cause which can affect any organ system. Autosomal dominant lysozyme amyloidosis is a very rare form of hereditary amyloidosis. The Arg64 variant is extraordinarily rare with each family showing a particular pattern of organ involvement, however while Sicca syndrome, gastrointestinal involvement and renal failure are common, lymph node involvement is very rare. In this case report we describe the first reported case of sarcoidosis in association with hereditary lysozyme amyloidosis.

Mania associated with complicated hereditary spastic paraparesis

OpenAIRE

Raghavendra B Nayak; Govind S Bhogale; Nanasaheb M Patil; Aditya A Pandurangi

2011-01-01

Hereditary spastic paraparesis (HSP) is an inherited group of neurological disorders with progressive lower limb spasticity. HSP can be clinically grouped into pure and complicated forms. Pure HSP is one without any associated neurological/psychiatric comorbidity. Depression is the most common psychiatric comorbidity. Presence of mania or bipolar affective illness with HSP is a rare phenomenon. We report a case of a 17-year-old boy who presented with classical features of HSP with complaints ...

Bevacizumab: an option for refractory epistaxis in hereditary haemorrhagic telangiectasia.

Science.gov (United States)

Amann, Arno; Steiner, Normann; Gunsilius, Eberhard

2015-08-01

Recurrent epistaxis in hereditary haemorrhagic telangiectasia (HHT) patients significantly decreases their quality of life. Treatment in therapy refractory patients is limited although various options have been tested so far. Herein, one patient is described that was treated for HHT for over 20 years with only intermediate benefits. As epistaxis duration and frequency increased continuously, bevacizumab 5 mg/kg was administered every 2 weeks. During the time of treatment (six doses) and up to 3 month afterwards clinical symptoms, blood pressure, cardiac output, pulmonary arterial hypertension (PAH), bleeding duration and frequency were assessed as criteria for treatment benefit. Duration and frequency of epistaxis decreased immediately after the first application resulting in reduced need of blood transfusions. After completion of six cycles, a further decrease in frequency and duration of bleeding was noted. Cardiac output and PAH decreased or remained stable, respectively, during time and after treatment. No increase in blood pressure could be found but a significant increase in heart rate was experienced after completion of all six applications. Unfortunately, the patient died due to a cerebral abscess. Bevacizumab led to an improvement of HHT related epistaxis, refractory to other treatments.

The bleeding time may be longer in children than in adults.

Science.gov (United States)

Sanders, J M; Holtkamp, C A; Buchanan, G R

1990-01-01

The bleeding time, the most frequently performed test reflecting in vivo platelet function, is the duration of blood flow from a standardized incision on the volar surface of the forearm. Normal values have been determined in adult subjects, but with the exception of neonates, data on the range of bleeding time values in pediatric patients are unavailable. Standard hematology textbooks imply that bleeding time values in children are similar to those of adults. We have reviewed our 9 years of experience with 137 children (mean age 6.5 years) who were referred for diagnostic evaluation of a bleeding disorder but whose history and physical examination were felt by us to be inconsistent with an abnormality of hemostasis. Bleeding time values in these individuals (mean 6.0 min, 95th percentile 9.0 min) were compared with those of 85 normal adult volunteers (mean 4.4 min, 95th percentile 6.5 min). The Simplate-I disposable device and vertical (perpendicular to elbow crease) incision direction were used in both groups. This difference between the pediatric and adult bleeding time values is statistically significant (p less than 0.0001). Neither age nor sex had a significant effect on the pediatric bleeding time measurements. We conclude that the bleeding time, when performed as described, is longer in children than in adults and that pediatric standards for bleeding time should be used in order to avoid a spurious diagnosis of a primary hemostatic disorder in some normal children.

Evaluation of Aryoseven Safety (Recombinant Activated Factor VII) in Patients with Bleeding Disorders (An Observational Post-Marketing Surveillance Study).

Science.gov (United States)

Toogeh, Gholamreza; Abolghasemi, Hassan; Eshghi, Peyman; Managhchi, Mohammadreza; Shaverdi-Niasari, Mohammadreza; Karimi, Katayoon; Roostaei, Samin; Emran, Neda; Abdollahi, Alireza

2016-01-01

Recombinant activated factor VII induces hemostasis in patients with coagulopathy disorders. AryoSeven™ as a safe Iranian Recombinant activated factor VII has been available on our market. This study was performed to establish the safety of AryoSeven on patients with coagulopathy disorder. This single-center, descriptive, cross sectional study was carried out in Thrombus and Homeostasis Research Center ValiAsr Hospital during 2013-2014. Fifty one patients with bleeding disorders who received at least one dose of Aryoseven were enrolled. Patients' demographic data and adverse effect of drug and reaction related to Aryoseven or previous usage of Recombinant activated FVII were recorded in questionnaires. Finally data were analyzed to compare side effects of Aryoseven and other Recombinant activated FVII brands. Aryoseven was prescribed for 51 Patients. Of all participants with mean age 57.18+21.38 yr, 31 cases were male and 26 subjects had past history of recombinant activated FVII usage. Glanzman was the most frequent disorder followed by congenital FVII deficiency, hemophilia with inhibitors, factor 5 deficiency, acquired hemophilia, hemophilia A with inhibitor, and hemophilia A or B with inhibitor. The majority of bleeding episodes had occurred in joints. Three patients (5.9%) complained about adverse effects of Aryoseven vs. 11.5 % about adverse effects of other brands. However this difference was not significant, statistically. Based on monitor patients closely for any adverse events, we concluded that Aryoseven administration under careful weighing of benefit versus potential harm may comparable with other counterpart drugs.

Pelvic artery embolization in gynecological bleeding

International Nuclear Information System (INIS)

Hausegger, K.A.; Schreyer, H.; Bodhal, H.

2002-01-01

The most common reasons for gynecological bleeding are pregnancy-related disorders, fibroids of the uterus, and gynecological malignances. Transarterial embolization is an effective treatment modality for gynecological bleeding regardless of its etiology. Depending on the underlying disease, a different technique of embolization is applied. In postpartal bleeding a temporary effect of embolization is desired, therefore gelatine sponge is used as embolizing agent. In fibroids and malignant tumors the effect should permanent, therefore PVA particles are used. Regardless the etiology, the technical and clinical success of transarterial embolization is at least 90%. In nearly every patient a post-embolization syndrome can be observed, represented by local pain and fever. This post-embolization syndrome usually does not last longer than 3 days. If embolization is performed with meticulous attention to angiographic technique and handling of embolic material, ischemic damage of adjacent organs is rarely observed. Transarterial embolization should be an integrative modality in the treatment of gynecological bleeding. (orig.) [de

Frequency of endometrial carcinoma in patients with postmenopausal bleeding

International Nuclear Information System (INIS)

Yousaf, S.; Shaheen, M.; Rana, T.

2010-01-01

Introduction: Postmenopausal bleeding (PMB) is defined as bleeding that occurs after 1 year of amenorrhea in a woman who is not receiving hormone replacement therapy (HRT). About 10% of women with postmenopausal bleeding have a primary or secondary malignancy. Common malignancies among them are endometrial cancer (80%), cervical cancer or an ovarian tumour. Endometrial cancer is the second most common cancer associated with hereditary non-polyposis colorectal cancer. Ninety percent of patients have benign causes. Objective: The objective of this study was to determine the frequency of endometrial carcinoma in patients with post-menopausal bleeding. Study Design: Descriptive case series study. Setting: Department of obstetrics and gynaecology, Lady Willingdon, Lahore. Duration of Study: This study was conducted over a period of six months from January, 1 2009 to June 30, 2009. Subjects and Methods: 50 cases with postmenopausal bleeding. Results: During the period of this study a total number of 50 consecutive patients who met inclusion criteria were enrolled in the study. Ages of the patients who presented with PMB ranged between 48 years and 80 years with a mean age of 59 years. Malignancy was found in 18 out of 50 cases (36%).Cases with endometrial CA were 14 out of 50 cases (28%) and CA cervix constituted 4 out of 50 cases (8%). Benign pathology was more frequent (64%). 13 of 50 cases (26%) had hyperplasia out of which 1 case (2%) was of atypical hyperplasia. Endometrial polyp was found in 4 of 50 cases (8%). 3 of 50 cases (6%) had chronic endometritis. 5 of 50 cases (10%) had chronic cervicitis. While 7 cases (14%) had postmenopausal bleeding due to decubitus ulcer of uterovaginal prolapse. Among malignancies (36%), endometrial cancer is the most frequent malignancy in women with postmenopausal bleeding with mean age of 65 years. Conclusion: In this study it was concluded that the majority of cases of PMB would be expected to be suffering from benign problems

Genes for Hereditary Sensory and Autonomic Neuropathies: A Genotype-Phenotype Correlation

Science.gov (United States)

Rotthier, Annelies; Baets, Jonathan; De Vriendt, Els; Jacobs, An; Auer-Grumbach, Michaela; Levy, Nicolas; Bonello-Palot, Nathalie; Kilic, Sara Sebnem; Weis, Joachim; Nascimento, Andres; Swinkels, Marielle; Kruyt, Moyo C.; Jordanova, Albena; De Jonghe, Peter; Timmerman, Vincent

2009-01-01

Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory and autonomic neurons. So far, disease-associated mutations have been identified in seven genes: two genes for autosomal dominant ("SPTLC1"…

Ayurvedic management of spondyloepiphyseal dysplasia tarda, a rare hereditary disorder

Directory of Open Access Journals (Sweden)

Sarvesh Kumar Singh

2016-10-01

Full Text Available Spondyloepiphyseal dysplasia tarda (SEDT is a rare genetic disease in which patient suffers from short stature, short trunk and neck with disproportionately long arms, coxa vara, skeletal features such as barrel shaped chest, kyphosis, scoliosis and early arthropathy. Only limited medical and surgical management is available in modern medicine. A 15 years old male suffering from SEDT and diagnosed as Vata vyadhi was treated with Panchakarma therapy and selected Ayurvedic oral medicines. Ayurvedic treatment was directed to ameliorate the orthopaedic clinical conditions in this case. Panchakarma procedures such as Shalishastika pinda svedana for a month and Mustadi yapana basti for 16 days were given along with oral Ayurvedic medicines. Same Panchakarma procedures were repeated after an interval of 2 months. A combination of Ayurvedic oral medicines such as Trayodashanga guggulu-500 mg twice a day, Dashmool kvatha (decoction of roots of 10 herbs 40 ml twice a day, Eranda paka 10 g twice a day, Shiva gutika-500 mg twice a day and Dashmoolarista-20 ml (with equal water twice a day were prescribed. Eight scales based Medical outcome study (MOS – 36 item short form – health surveys was assessed for outcome which shows good improvement. Kyphosis, scoliosis and pain were moderately reduced. Clinical experience of this case indicates that Ayurvedic herbs along with Panchakarma can play a major role in the management of hereditary disorder SEDT.

Dysfunctional uterine bleedings of a climacteric period

International Nuclear Information System (INIS)

Prilepskaya, V.N.

1993-01-01

Climacteric period of some women is complicated by dysfunctional uterine bleedings (DUB). Bearing in mind the fact that DUBS are caused by disorder of estrin rhysmic secretion, the paper presents the methods of differential diagnostics for investigations into functional disorders in the hypothalamus -hypophysis - ovaries - uterus system. The preference is given to roentgenologic and radioimmunologic diagnostic methods

Hereditary neuromuscular diseases

Energy Technology Data Exchange (ETDEWEB)

Oezsarlak, O. E-mail: ozkan.ozsarlak@uza.be; Schepens, E.; Parizel, P.M.; Goethem, J.W. van; Vanhoenacker, F.; Schepper, A.M. de; Martin, J.J

2001-12-01

This article presents the actual classification of neuromuscular diseases based on present expansion of our knowledge and understanding due to genetic developments. It summarizes the genetic and clinical presentations of each disorder together with CT findings, which we studied in a large group of patients with neuromuscular diseases. The muscular dystrophies as the largest and most common group of hereditary muscle diseases will be highlighted by giving detailed information about the role of CT and MRI in the differential diagnosis. The radiological features of neuromuscular diseases are atrophy, hypertrophy, pseudohypertrophy and fatty infiltration of muscles on a selective basis. Although the patterns and distribution of involvement are characteristic in some of the diseases, the definition of the type of disease based on CT scan only is not always possible.

Brain abscesses and hereditary hemorrhagic telangiectasia

International Nuclear Information System (INIS)

Vives, Daniel A.; Bauni, Carlos E.; Mendoza, Monica E.

2003-01-01

Rendu-Osler-Weber disease or Hereditary Hemorrhagic Telangiectasia (HHT) is a generalized familial angiodysplastic disorder. The neurological manifestations of this entity are due to Central Nervous System vascular lesions or to complications of other visceral lesions such as pulmonary arteriovenous fistulae. This report describes two patients (males, 40 and 61 years old), with brain abscesses associated with HHT. The CT, MRI and Angiographic findings as well as the therapeutic approach are analyzed. Patients with brain abscess of unknown origin must be evaluated for the presence of lung vascular malformation in association with HHT. (author)

Autosomal recessive type II hereditary motor and sensory neuropathy with acrodystrophy.

Science.gov (United States)

Thomas, P K; Claus, D; King, R H

1999-02-01

A family is described with presumed autosomal recessive inheritance in which three siblings developed a progressive neuropathy that combined limb weakness and severe distal sensory loss leading to prominent mutilating changes. Electrophysiological and nerve biopsy findings indicated an axonopathy. The disorder is therefore classifiable as type II hereditary motor and sensory neuropathy (HMSN II). The clinical features differ from those reported in previously described cases of autosomal recessive HMSN II. This disorder may therefore represent a new variant.

Genetics Home Reference: hereditary fructose intolerance

Science.gov (United States)

... Twitter Home Health Conditions Hereditary fructose intolerance Hereditary fructose intolerance Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Hereditary fructose intolerance is a condition that affects a person's ...

2010 International consensus algorithm for the diagnosis, therapy and management of hereditary angioedema

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Bowen Tom

2010-07-01

Full Text Available Abstract Background We published the Canadian 2003 International Consensus Algorithm for the Diagnosis, Therapy, and Management of Hereditary Angioedema (HAE; C1 inhibitor [C1-INH] deficiency and updated this as Hereditary angioedema: a current state-of-the-art review: Canadian Hungarian 2007 International Consensus Algorithm for the Diagnosis, Therapy, and Management of Hereditary Angioedema. Objective To update the International Consensus Algorithm for the Diagnosis, Therapy and Management of Hereditary Angioedema (circa 2010. Methods The Canadian Hereditary Angioedema Network (CHAEN/Réseau Canadien d'angioédème héréditaire (RCAH http://www.haecanada.com and cosponsors University of Calgary and the Canadian Society of Allergy and Clinical Immunology (with an unrestricted educational grant from CSL Behring held our third Conference May 15th to 16th, 2010 in Toronto Canada to update our consensus approach. The Consensus document was reviewed at the meeting and then circulated for review. Results This manuscript is the 2010 International Consensus Algorithm for the Diagnosis, Therapy and Management of Hereditary Angioedema that resulted from that conference. Conclusions Consensus approach is only an interim guide to a complex disorder such as HAE and should be replaced as soon as possible with large phase III and IV clinical trials, meta analyses, and using data base registry validation of approaches including quality of life and cost benefit analyses, followed by large head-to-head clinical trials and then evidence-based guidelines and standards for HAE disease management.

Deprivation amblyopia and congenital hereditary cataract.

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Mansouri, Behzad; Stacy, Rebecca C; Kruger, Joshua; Cestari, Dean M

2013-01-01

Amblyopia is a neurodevelopmental disorder of vision associated with decreased visual acuity, poor or absent stereopsis, and suppression of information from one eye.(1,2) Amblyopia may be caused by strabismus (strabismic amblyopia), refractive error (anisometropic amblyopia), or deprivation from obstructed vision (deprivation amblyopia). 1 In the developed world, amblyopia is the most common cause of childhood visual impairment, 3 which reduces quality of life 4 and also almost doubles the lifetime risk of legal blindness.(5, 6) Successful treatment of amblyopia greatly depends on early detection and treatment of predisposing disorders such as congenital cataract, which is the most common cause of deprivational amblyopia. Understanding the genetic causes of congenital cataract leads to more effective screening tests, early detection and treatment of infants and children who are at high risk for hereditary congenital cataract.

Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroids.

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Blume, Josefine; Weissert, Robert

2017-01-01

Early motor symptoms of neurodegenerative diseases often appear in combination with psychiatric symptoms, such as depression or personality changes, and are in danger of being misdiagnosed as psychogenic in young patients. We present the case of a 32-year-old woman who presented with rapid-onset depression, followed by a hypokinetic movement disorder and cognitive decline during pregnancy. Genetic testing revealed a mutation in the colony-stimulating factor 1 receptor gene, which led to the diagnosis of hereditary diffuse leukoencephalopathy with spheroids. Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is probably an under-recognized disease. HDLS should be considered in patients with rapidly progressing parkinsonian symptoms and dementia accompanied by white matter lesions.

Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroids

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Josefine Blume

2017-01-01

Full Text Available Early motor symptoms of neurodegenerative diseases often appear in combination with psychiatric symptoms, such as depression or personality changes, and are in danger of being misdiagnosed as psychogenic in young patients. We present the case of a 32-year-old woman who presented with rapid-onset depression, followed by a hypokinetic movement disorder and cognitive decline during pregnancy. Genetic testing revealed a mutation in the colony-stimulating factor 1 receptor gene, which led to the diagnosis of hereditary diffuse leukoencephalopathy with spheroids. Hereditary diffuse leukoencephalopathy with spheroids (HDLS is probably an under-recognized disease. HDLS should be considered in patients with rapidly progressing parkinsonian symptoms and dementia accompanied by white matter lesions.

Clinical definition of hereditary non-polyposis colorectal cancer : A search for the impossible?

NARCIS (Netherlands)

Berends, MJW; Wu, Y; Sijmons, RH; Hofstra, RMW; van der Zee, AGJ; Buys, CHCM; Kleibeuker, JH

2001-01-01

Hereditary non-polyposis colorectal cancer is an autosomal dominant inherited disorder that predisposes its carriers to an almost 100% lifetime risk of cancer, in particular colorectal and endometrial cancer. Germline mutations, resulting in a deficient DNA mismatch repair system. are responsible

Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis.

Science.gov (United States)

Höblinger, A; Erdmann, C; Strassburg, C P; Sauerbruch, T; Lammert, F

2009-04-16

Here we report a 33-years-old woman with hereditary spherocytosis and hemochromatosis due to homozygosity for the C282Y mutation of the HFE gene. The coinheritance of both conditions led to severe iron overload and liver cirrhosis at young age. The patient was treated by repeated phlebotomy, and reversibility of cirrhosis was documented by transient elastography. This report discusses the pathophysiology of iron accumulation in patients with hemolytic anemia combined with HFE C282Y homozygosity. The case indicates that patients with hematological disorders characterized by increased erythropoetic activity should be screened for HFE mutations.

Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia

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MacKie Iain

2008-11-01

Full Text Available Abstract The hereditary dentine disorders, dentinogenesis imperfecta (DGI and dentine dysplasia (DD, comprise a group of autosomal dominant genetic conditions characterised by abnormal dentine structure affecting either the primary or both the primary and secondary dentitions. DGI is reported to have an incidence of 1 in 6,000 to 1 in 8,000, whereas that of DD type 1 is 1 in 100,000. Clinically, the teeth are discoloured and show structural defects such as bulbous crowns and small pulp chambers radiographically. The underlying defect of mineralisation often results in shearing of the overlying enamel leaving exposed weakened dentine which is prone to wear. Currently, three sub-types of DGI and two sub-types of DD are recognised but this categorisation may change when other causative mutations are found. DGI type I is inherited with osteogenesis imperfecta and recent genetic studies have shown that mutations in the genes encoding collagen type 1, COL1A1 and COL1A2, underlie this condition. All other forms of DGI and DD, except DD-1, appear to result from mutations in the gene encoding dentine sialophosphoprotein (DSPP, suggesting that these conditions are allelic. Diagnosis is based on family history, pedigree construction and detailed clinical examination, while genetic diagnosis may become useful in the future once sufficient disease-causing mutations have been discovered. Differential diagnoses include hypocalcified forms of amelogenesis imperfecta, congenital erythropoietic porphyria, conditions leading to early tooth loss (Kostmann's disease, cyclic neutropenia, Chediak-Hegashi syndrome, histiocytosis X, Papillon-Lefevre syndrome, permanent teeth discolouration due to tetracyclines, Vitamin D-dependent and vitamin D-resistant rickets. Treatment involves removal of sources of infection or pain, improvement of aesthetics and protection of the posterior teeth from wear. Beginning in infancy, treatment usually continues into adulthood with a

Well-being of haemophilia patients: a model for direct and indirect effects of medical parameters on the physical and psychosocial functioning

NARCIS (Netherlands)

Triemstra, A. H.; van der Ploeg, H. M.; Smit, C.; Briët, E.; Adèr, H. J.; Rosendaal, F. R.

1998-01-01

This study outlines the development and evaluation of a structural equation model for establishing the consequences of haemophilia. The hereditary disorder is characterized by a high tendency to haemorrhages, with recurrent bleeding into the joints causing irreversible joint damage. The model is, in

Evaluation of Fibrin Sealants and Tissue Adhesives in Oral Surgery for Patients with Bleeding Disorders

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Gülsüm Ak

2012-03-01

Full Text Available OBJECTIVE: The aim of this study was to evaluate the efficiency of two local haemostatic agents administered together with preoperative dose of replacement therapy for oral surgical procedures in patients with bleeding disorders METHODS: Twenty-one patients were divided into three groups randomly. Patients in Group 1 (n=7 received preoperative replacement therapy with postoperative fibrin sealant application in the surgical site. Patients in Group 2 (n=7 received preoperative replacement therapy with postoperative tissue adhesive application in the surgical site. Patients in Group 3 (n=7 were given total dose of replacement therapy pre- and postoperatively. RESULTS: No postoperative bleeding was observed in 17 patients including five patients in Group 1 (71.42%, six patients in Group 2 (85.71% and six patients in Group 3 (85.71%. Haemorrhagic complication was observed in only four patients among all groups. CONCLUSION: We conclude that utilization of fibrin sealants and tissue adhesives in oral surgery is beneficial due to the lessened amount of factor concentrates used for replacement therapy and the rapid haemostasis at the operation side to perform serial surgical procedures in the same session.

The prevalence of primary hereditary hemochromatosis in central Anatolia.

Science.gov (United States)

Karaca, Halit; Güven, Kadri; Önal, Müge; Gürsoy, Şebnem; Başkol, Mevlüt; Özkul, Yusuf

2013-01-01

Hereditary hemochromatosis is an autosomal recessive disorder associated with the HFE genes. Early identification and diagnosis is important as end stage organ damage may occur if treatment is delayed.. This study aimed to identify the prevalence of hereditary hemochromatosis in Kayseri and surroundings known as Central Anatolia. 2304 participants (1220 males, 1084 females) who were older then the age of 17 were included in the study conducted between December 2005 and December 2006 in Kayseri, Turkey. Transferin saturation was measured from overnight fasting blood samples. Serum iron, total iron binding capacity, and transferin saturation were measured. Serum ferritin levels and hereditary hemochromatosis genetic analysis were also performed after an overnight fasting blood samples from participants whose transferin saturation results were more than 50% in man and more than 45% in women. The homozygote C282Y mutation and heterozygote C282Y mutation prevalences were found as 0.08% (1/1220) and 0.08% (1/1220) in male participants, respectively. The heterozygote H63D mutation prevalence was found in 0.09% (1/1084) of female participants. Calculated prevalences in general population are as follows; The homozygote C282Y mutation prevalence is 0.043% (1/2304), the heterozygote C282Y mutation prevalence is 0.043% (1/2304) and the heterozygote H63D mutation prevalence is 0.043% (1/2304). The prevalence of hereditary hemochromatosis in Central Anatolia is 0.043% (1/2304). Because of the relatively low frequency, population screening studies are not cost-effective.

Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations

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Castori, Marco

2012-01-01

Ehlers-Danlos syndrome, hypermobility type, constituting a phenotypic continuum with or, perhaps, corresponding to the joint hypermobility syndrome (JHS/EDS-HT), is likely the most common, though the least recognized, heritable connective tissue disorder. Known for decades as a hereditary condition with predominant rheumatologic manifestations, it is now emerging as a multisystemic disorder with widespread manifestations. Nevertheless, the practitioners' awareness of this condition is generally poor and most patients await years or, perhaps, decades before reaching the correct diagnosis. Among the various sites of disease manifestations, skin and mucosae represent a neglected organ where the dermatologist can easily spot diagnostic clues, which consistently integrate joint hypermobility and other orthopedic/neurologic manifestations at physical examination. In this paper, actual knowledge on JHS/EDS-HT is summarized in various sections. Particular attention has been posed on overlooked manifestations, including cutaneous, mucosal, and oropharyngeal features, and early diagnosis techniques, as a major point of interest for the practicing dermatologist. Actual research progresses on JH/EDS-HT envisage an unexpected link between heritable dysfunctions of the connective tissue and a wide range of functional somatic syndromes, most of them commonly diagnosed in the office of various specialists, comprising dermatologists. PMID:23227356

Hereditary non-polyposis colorectal cancer : Identification of mutation carriers and assessing pathogenicity of mutations

NARCIS (Netherlands)

Niessen, RC; Sijmons, RH; Berends, MJW; Ou, J; Hofstra, RNW; Kleibeuker, JH

2004-01-01

Hereditary non-polyposis colorectal cancer (HNPCC), also referred to as Lynch syndrome, is an autosomal dominantly inherited disorder that is characterized by susceptibility to colorectal cancer and extracolonic malignancies, in particular endometrial cancer. HNPCC is caused by pathogenic mutations

Bilateral hereditary micro-epiphyseal dysplasia : clinical and genetic analysis of a Dutch family

NARCIS (Netherlands)

Mostert, Adrianus Klazinus

2003-01-01

This thesis is based upon a study of a Dutch family with a unique skeletal dysplasia first described by Elsbach in 1959. Because of the presence of microepiphyses, he called this disorder bilateral hereditary micro-epiphyseal dysplasia (BHMED) and distinguished it from more common multiple

Pharmacologic Agents in the Management of Bleeding Disorders

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1990-01-01

Cronberg S. Glanz- patients. Scand J Hacmatol 1985;35:497-500. mann’s thrombasthenia: pregnancy and parturition (abstract). 82. Olson RE. Vitamin K. In...Uraemic bleeding: role of anaemia and beneficial effect 120. Czer LSC, Bateman TM, Gray RJ, ct al. Treatment of severe of red cell transfusions

Hereditary pancreatitis for the endoscopist

OpenAIRE

Patel, Milan R.; Eppolito, Amanda L.; Willingham, Field F.

2013-01-01

Hereditary pancreatitis shares a majority of clinical and morphologic features with chronic alcoholic pancreatitis, but may present at an earlier age. The term hereditary pancreatitis has primarily been associated with mutations in the serine protease 1 gene (PRSS1) which encodes for cationic trypsinogen. PRSS1 mutations account for approximately 68–81% of hereditary pancreatitis. Mutations in other genes, primarily serine protease inhibitor Kazal type 1 (SPINK1) and the cystic fibrosis trans...

Are patients with severe epistaxis caused by hereditary hemorrhagic telangiectasia satisfied with nostril closure surgery?

Science.gov (United States)

Ichimura, Keiichi; Kikuchi, Hisashi; Imayoshi, Shoichiro; Yamauchi, Tomohiko; Ishikawa, Kotaro

2012-02-01

Recurrent epistaxis as a manifestation of hereditary hemorrhagic telangiectasia (HHT) is usually difficult to control. Although no treatment is regarded to be completely efficacious, nostril closure is considered a modality of choice for the most severe cases. The cessation of airflow resulting from this procedure can stop bleeding by minimizing risk factors. However, loss of nasal functions is a disadvantage of nostril closure. We conducted a questionnaire survey of patients who underwent nostril closure surgery, regarding the effects and disadvantages of the operation. Seven patients were asked questions on issues including frequency and severity of epistaxis pre- and post-operatively, satisfaction of treatment, and impairment in daily living activities. Most patients reported complete cessation of bleeding. Some still had bleeding, but the frequency and severity were far lower. No transfusions were required in any of the cases. Patients reported some disadvantages, for example, respiratory, olfactory, and phonatory issues. Six out of seven patients were very satisfied with the outcome of surgery. Nostril closure surgery can remarkably reduce frequency and volume of epistaxis. Our survey indicated that satisfactory results were achieved. However, difficulties caused by complete nasal obstruction varied. Thus, individualized coping strategies are required. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

An unexpected cause of vaginal bleeding: the role of pelvic radiography.

Science.gov (United States)

Kyrgios, Ioannis; Emmanouilidou, Eleftheria; Theodoridis, Theodoros; Galli-Tsinopoulou, Assimina

2014-02-14

Vaginal bleeding and/or discharge in young girls may result from infection, urological problems, endocrine causes, bleeding disorders, dermatological conditions, trauma, sexual abuse, masses or foreign bodies. We report a case of excessive vaginal bleeding caused by a foreign body in a prepubertal girl with emphasis on the diagnostic challenges and pitfalls regarding imaging techniques. In our patient, although invasive and expensive investigations had been initially made, the foreign body was last detected only when a plain pelvic radiography was performed.

Epistaxis grading in Osler's disease: comparison of comprehensive scores with detailed bleeding diaries.

Science.gov (United States)

Parzefall, Thomas; Wolf, Axel; Frei, Klemens; Kaider, Alexandra; Riss, Dominik

2017-03-01

Use of reliable grading scores to measure epistaxis severity in hereditary hemorrhagic telangiectasia (HHT) is essential in clinical routine and for scientific purposes. For practical reasons, visual analog scale (VAS) scoring and the Epistaxis Severity Score (ESS) are widely used. VAS scores are purely subjective, and a potential shortcoming of the ESS is that it is based on self-reported anamnestic bleeding data. The aim of this study was to validate the level of correlation between VAS scores, the ESS, and actual bleeding events, based on detailed epistaxis diaries of patients. Records from daily epistaxis diaries maintained by 16 HHT patients over 112 consecutive days were compared with the monthly ESS and daily VAS scores in the corresponding time period. The Spearman rank correlation coefficient, analysis of variance models, and multiple R 2 measures were used for statistical analysis. Although the ESS and VAS scores generally showed a high degree of correlation with actual bleeding events, mild events were underrepresented in both scores. Our results highlight the usefulness of the ESS as a standard epistaxis score in cohorts with moderate to severe degrees of epistaxis. The use of detailed epistaxis diaries should be considered when monitoring patients and cohorts with mild forms of HHT. © 2016 ARS-AAOA, LLC.

Hereditary angioedema.

Science.gov (United States)

Bracho, Francisco A

2005-11-01

Hereditary angioedema is an autosomal-dominant deficiency of C1 inhibitor--a serpin inhibitor of kallikrein, C1r, C1s, factor XII, and plasmin. Quantitative or qualitative deficiency of C1 inhibitor leads to the generation of vasoactive mediators, most likely bradykinin. The clinical syndrome is repeated bouts of nonpruritic, nonpitting edema of the face, larynx, extermities, and intestinal viscera. Recently, investigators, physicians, and industry have demonstrated a renewed interest in the biology and treatment of hereditary angioedema. Investigators have generated a C1INH-/- mouse model that has demonstrated the importance of the contact activation system for hereditary angioedema-related vascular permeability. An interactive database of mutations is available electronically. Investigators have continued exploration into mRNA/protein levels. The proceedings of a recent workshop have been impressive in the scope and depth. Clinicians have produced consensus documents and expert reviews. The pharmaceutical industry has initiated clinical trails with novel agents. Hereditary angioedema is often misdiagnosed and poorly treated. Diagnosis requires careful medical and family history and the measurement of functional C1 inhibitor and C4 levels. Attenuated androgens, anti-fibrinolytics, and C1 inhibitor concentrates are used for long-term and preprocedure prophylaxis, but have significant drawbacks. C1 inhibitor concentrates and fresh frozen plasma are available for acute intervention. The mainstays of supportive care are airway monitoring, pain relief, hydration, and control of nausea. New agents such as recombinant C1 inhibitor, kallikrein inhibitors, and bradykinin inhibitors may offer safer and more tolerable treatments.

Is Previous Tubal Ligation a Risk Factor for Hysterectomy because of Abnormal Uterine Bleeding?

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Sanam Moradan

2012-07-01

Full Text Available Objectives: Post tubal ligation syndrome (PTLS is a term used to describe a variety of post tubal ligation side effects or symptoms. These include increased menstrual bleeding and hysterectomy. Whether or not post tubal syndrome is a real entity, it has been a subject of controversy in the medical literature for decades. Numerous studies have reported conflicting conclusions about these symptoms. In this study the incidence of hysterectomy for bleeding disorders among sterilized women was compared with the incidence of hysterectomy for bleeding disorders among non-sterilized female population of the same age.Methods: This study was carried out on 160 women, 38-52 years, who underwent hysterectomy in Amir University Hospital, Semnan, Iran, from September 2008 to September 2011. After gathering of data from medical records, in this study, the incidence of hysterectomy for bleeding disorders among sterilized women was compared with the incidence of hysterectomy for bleeding disorders among nonsterilized female population for the same age.Results: The mean age of the study group was 44/4±5/7 and the mean age of the control group was 45/2±5/3, (p=0.424.The mean parity of the study group was 3/8±1/8 and the mean parity of the control group was 3/5±1/4, (p=0.220. So, in regard to age and parity, two groups were matched. Hysterectomies were performed for 160 cases and abnormal uterine bleeding was the cause of hysterectomy in 67 cases. Among 67 cases, 19 cases (37.3% had previous tubal sterilization + hysterectomy (study group and 48 cases (44% were not undergoing tubal sterilization but had hysterectomy for abnormal bleeding causes (control group. Statistical analyses showed that there were not significant differences between two groups, (RR=0.85; 95% CI: 0.56-1.28; p=0.418.Conclusion: The result of this study showed that previous tubal sterilization is not a risk factor for undergoing hysterectomy because of abnormal uterine bleeding.

Vascular gastric anomalies as a cause of relapsing bleeding

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Golubović Gradimir

2008-01-01

Full Text Available Background. Although relatively rare, gastric vascular anomalies can be recognized as a source of both chronic and acute blood loss, most often presenting as long term iron deficiency anemia, rarely as severe acute gastrointestinal bleeding. Case report. We present five patients with various gastric vascular anomalies, diagnosed during the year of 2003. in the Clinical Hospital Center Zemun. The diagnosis was based on endoscopic appearances, clinical history and characteristic histological findings. Gastric vascular anomalies presented in our review were: portal hypertensive gastropathy, gastric antral vascular ectasia, angiodysplasia, hereditary hemorrhagic telangiectasia and Dieulafoy lesion. The used treatment modalities included surgery and various endoscopic techniques (schlerotherapy, argon plasma coagulation. Conclusion. Patients presented with chronic iron deficiency anemia or acute and recurrent gastrointestinal hemorrhage should be considered as having one of gastric vascular anomalies.

What Should You Know about Blood Disorders in Women?

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... Cancel Submit Search the CDC Bleeding Disorders in Women Note: Javascript is disabled or is not supported ... this page: About CDC.gov . Bleeding Disorders in Women Survey Findings on Young Women and Bleeding Disorders ...

Gastrointestinal bleeding

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... Sigmoidoscopy Alternative Names Lower GI bleeding; GI bleeding; Upper GI bleeding; Hematochezia Images GI bleeding - series Fecal occult blood test References Kovacs TO, Jensen DM. Gastrointestinal hemorrhage. In: Goldman L, Schafer AI, eds. Goldman- ...

Systemic causes of heavy menstrual bleeding

NARCIS (Netherlands)

Verschueren, Sophie

2017-01-01

Heavy menstrual bleeding (HMB) is a common problem in fertile women. In addition to local factors, such as a polyp or a uterine fibroid, systemic causes may lead to HMB. These systemic causes are discussed in this thesis. For years, women with HMB were tested underlying thyroid disorder, but our

Increased Mortality and Comorbidity Associated With Leber's Hereditary Optic Neuropathy

DEFF Research Database (Denmark)

Vestergaard, Nanna; Rosenberg, Thomas; Torp-Pedersen, Christian

2017-01-01

Purpose: Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease in which optic neuropathy is considered a key feature. Several other manifestations of LHON have been reported; however, only little is known of their incidence and the life expectancy in LHON patients. Methods...... patients (RR: 4.26, 95% CI: 1.91-9.48; P neuropathy, and alcohol-related disorders. Conclusions: The manifestation of LHON was associated...

Hereditary spastic paraplegias: membrane traffic and the motor pathway

OpenAIRE

Blackstone, Craig; O’Kane, Cahir J.; Reid, Evan

2011-01-01

Voluntary movement is a fundamental way in which animals respond to, and interact with, their environment. In mammals, the main CNS pathway controlling voluntary movement is the corticospinal tract, which encompasses connections between the cerebral motor cortex and the spinal cord. Hereditary spastic paraplegias (HSPs) are a group of genetic disorders that lead to a length-dependent, distal axonopathy of fibres of the corticospinal tract, causing lower limb spasticity and weakness. Recent wo...

Hereditary forms of breast cancer

International Nuclear Information System (INIS)

Bella, V.

2009-01-01

Breast cancer is the most common oncologic disease in the female population. Besides the sporadic occurrence it occurs in the familial and hereditary form. Persons with the occurrence of positive family anamnesis of breast cancer should be actively investigated. In the indicated cases it is necessary to send the woman to genetic examination. In case that the hereditary form of breast cancer is affirmed it is necessary to examine her family relatives. Women with the hereditary form of breast cancer occur in about 5 – 10 % portion from all women diagnosed with breast cancer. Nowadays we already know that 80 % of hereditary breast cancers are due to germ mutations in BRCA 1 and BRCA 2 gene. Persons with detected gene mutations must be dispensarized in the centres intended for it. (author)

The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.

Science.gov (United States)

Chao de la Barca, Juan Manuel; Simard, Gilles; Amati-Bonneau, Patrizia; Safiedeen, Zainab; Prunier-Mirebeau, Delphine; Chupin, Stéphanie; Gadras, Cédric; Tessier, Lydie; Gueguen, Naïg; Chevrollier, Arnaud; Desquiret-Dumas, Valérie; Ferré, Marc; Bris, Céline; Kouassi Nzoughet, Judith; Bocca, Cinzia; Leruez, Stéphanie; Verny, Christophe; Miléa, Dan; Bonneau, Dominique; Lenaers, Guy; Martinez, M Carmen; Procaccio, Vincent; Reynier, Pascal

2016-11-01

Leber's hereditary optic neuropathy (MIM#535000), the commonest mitochondrial DNA-related disease, is caused by mutations affecting mitochondrial complex I. The clinical expression of the disorder, usually occurring in young adults, is typically characterized by subacute, usually sequential, bilateral visual loss, resulting from the degeneration of retinal ganglion cells. As the precise action of mitochondrial DNA mutations on the overall cell metabolism in Leber's hereditary optic neuropathy is unknown, we investigated the metabolomic profile of the disease. High performance liquid chromatography coupled with tandem mass spectrometry was used to quantify 188 metabolites in fibroblasts from 16 patients with Leber's hereditary optic neuropathy and eight healthy control subjects. Latent variable-based statistical methods were used to identify discriminating metabolites. One hundred and twenty-four of the metabolites were considered to be accurately quantified. A supervised orthogonal partial least squares discriminant analysis model separating patients with Leber's hereditary optic neuropathy from control subjects showed good predictive capability (Q 2cumulated = 0.57). Thirty-eight metabolites appeared to be the most significant variables, defining a Leber's hereditary optic neuropathy metabolic signature that revealed decreased concentrations of all proteinogenic amino acids, spermidine, putrescine, isovaleryl-carnitine, propionyl-carnitine and five sphingomyelin species, together with increased concentrations of 10 phosphatidylcholine species. This signature was not reproduced by the inhibition of complex I with rotenone or piericidin A in control fibroblasts. The importance of sphingomyelins and phosphatidylcholines in the Leber's hereditary optic neuropathy signature, together with the decreased amino acid pool, suggested an involvement of the endoplasmic reticulum. This was confirmed by the significantly increased phosphorylation of PERK and eIF2α, as well as

Evaluation and Management of Adolescents with Abnormal Uterine Bleeding.

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Mullins, Tanya L Kowalczyk; Miller, Rachel J; Mullins, Eric S

2015-09-01

The International Federation of Gynecology and Obstetrics and the American Congress of Obstetricians and Gynecologists support the use of new terminology for abnormal uterine bleeding (AUB) to consistently categorize AUB by etiology. The term AUB can be further classified as AUB/heavy menstrual bleeding (HMB) (replacing the term "menorrhagia") or AUB/intermenstrual bleeding (replacing the term "metrorrhagia"). Although many cases of AUB in adolescent women are attributable to immaturity of the hypothalamic-pituitary-ovarian axis, underlying bleeding disorders should be considered in women with AUB/HMB. This article reviews the new terminology for AUB, discusses important relevant features of history and examination, presents the laboratory evaluation of HMB, and describes hormonal (oral contraceptive pills, progestin-only methods, long-acting reversible contraceptives including intrauterine systems), hematologic (tranexamic acid and desmopressin), and surgical management options for AUB/HMB. Copyright 2015, SLACK Incorporated.

Leopold: the "bleeder prince" and public knowledge about hemophilia in Victorian Britain.

Science.gov (United States)

Rushton, Alan R

2012-07-01

Hemophilia is a rare bleeding disorder inherited by males born of unaffected female carriers of the trait. British physicians became knowledgeable about this hereditary disease early in the nineteenth century as they investigated families transmitting the character through several generations. Prince Leopold (b. 1853), the fourth son of Queen Victoria, experienced recurrent bleeding episodes and was diagnosed with hemophilia during childhood. His hemorrhagic attacks were first described in the medical journals during 1868, and subsequently in the London and provincial newspapers. The royal family carefully managed news about health matters, and many newspapers reported widespread public sympathy for the travails of the queen and her children. But the republican press argued that the disaffected working classes resented the hyperbole connecting the health of royal individuals with the political future of the entire nation. Public discussion of hemophilia transformed it from a rare medical phenomenon to a matter of national news. Practicing physicians, the royal family, and the general public all came to understand the clinical features and the hereditary nature of the problem. Members of the royal family subsequently utilized this information to guide the marriages of their own children to prevent the spread of this dreaded bleeding disorder.

Abnormal uterine bleeding in perimenopause.

Science.gov (United States)

Goldstein, S R; Lumsden, M A

2017-10-01

Abnormal uterine bleeding is one of the commonest presenting complaints encountered in a gynecologist's office or primary-care setting. The wider availability of diagnostic tools has allowed prompt diagnosis and treatment of an increasing number of menstrual disorders in an office setting. This White Paper reviews the advantages and disadvantages of transvaginal ultrasound, blind endometrial sampling and diagnostic hysteroscopy. Once a proper diagnosis has been established, appropriate therapy may be embarked upon. Fortunately, only a minority of such patients will have premalignant or malignant disease. When bleeding is sufficient to cause severe anemia or even hypovolemia, prompt intervention is called for. In most of the cases, however, the abnormal uterine bleeding will be disquieting to the patient and significantly affect her 'quality of life'. Sometimes, reassurance and expectant management will be sufficient in such patients. Overall, however, in cases of benign disease, some intervention will be required. The use of oral contraceptive pills especially those with a short hormone-free interval, the insertion of the levonorgestrel intrauterine system, the incorporation of newer medical therapies including antifibrinolytic drugs and selective progesterone receptor modulators and minimally invasive treatments have made outpatient therapy increasingly effective. For others, operative hysteroscopy and endometrial ablation are proven therapeutic tools to provide both long- and short-term relief of abnormal uterine bleeding, thus avoiding, or deferring, hysterectomy.

Topical application of timolol decreases the severity and frequency of epistaxis in patients who have previously undergone nasal dermoplasty for hereditary hemorrhagic telangiectasia.

Science.gov (United States)

Ichimura, Keiichi; Kikuchi, Hisashi; Imayoshi, Shoichiro; Dias, Mari Shimada

2016-08-01

Hereditary hemorrhagic telangiectasia (HHT) is widely known to cause bleeding that is difficult to control because of the associated vascular wall fragility. Although nasal dermoplasty results in decreased severity and frequency of nasal bleeding in patients with HHT, it does not eradicate epistaxis because this procedure cannot cover the entire nasal cavity. Residual bleeding warrants additional effective therapy. Preliminary reports on the use of β-adrenergic blockers for treating epistaxis in patients with HHT encouraged us to examine their effects in HHT patients who had previously undergone nasal dermoplasty but still complained of epistaxis. We performed a prospective topical timolol, a nonselective beta blocker, application study involving 12 HHT patients who had undergone nasal dermoplasty. The observation period lasted for 3 months. There was one improperly enrolled case in which timolol administration was discontinued. The mean score of bleeding intensity and that of bleeding frequency were markedly reduced after treatment. Two patients who had required transfusions before treatment did not need them afterward, and patients were generally satisfied with the treatment. Topical timolol application was effective in decreasing epistaxis. Although no adverse effects were observed in the properly selected patients, there are contraindications to timolol application that should be kept in mind when applying this treatment. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

[Hereditary haemorrhagic telangiectasia diagnosed in connection with a traffic accident].

Science.gov (United States)

Sivapalan, Pradeesh; Demény, Ann Kathrin; Almind, Merete; Kjeldsen, Anette Drøhse

2014-02-17

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by vascular dysplasia and haemorrhage. It is manifested by mucocutaneous telangiec-tases and arteriovenous malformations in organs such as lungs, liver and brain. We present a case of HHT. A 16-year-old patient with a history of recurrent epistaxis was admitted to the local hospital with chest pain and desaturation. A CT scan revealed pulmonary arteriovenous malformations.

BRCA1/2 associated hereditary breast cancer

Institute of Scientific and Technical Information of China (English)

Li-song TENG; Yi ZHENG; Hao-hao WANG

2008-01-01

Breast cancer is one of the leading causes of death in women today. Some of the patients are hereditary, with a large proportion characterized by mutation in BRCA1 and/or BRCA2 genes. In this review, we provide an overview of these two genes,focusing on their relationship with hereditary breast cancers. BRCA1/2 associated hereditary breast cancers have unique features that differ from the general breast cancers, including alterations in cellular molecules, pathological bases, biological behavior, and a different prevention strategy. But the outcome of BRCA1/2 associated hereditary breast cancers still remains controversial;further studies are needed to elucidate the nature of BRCA1/2 associated hereditary breast cancers.

Whole-exome sequencing for diagnosis of hereditary ichthyosis.

Science.gov (United States)

Sitek, J C; Kulseth, M A; Rypdal, K B; Skodje, T; Sheng, Y; Retterstøl, L

2018-02-14

Hereditary ichthyosis constitutes a diverse group of cornification disorders. Identification of the molecular cause facilitates optimal patient care. We wanted to estimate the diagnostic yield of applying whole-exome sequencing (WES) in the routine genetic workup of inherited ichthyosis. During a 3-year-period, all ichthyosis patients, except X-linked and mild vulgar ichthyosis, consecutively admitted to a university hospital clinic were offered WES with subsequent analysis of ichthyosis-related genes as a first-line genetic investigation. Clinical and molecular data have been collected retrospectively. Genetic variants causative for the ichthyosis were identified in 27 of 34 investigated patients (79.4%). In all, 31 causative mutations across 13 genes were disclosed, including 12 novel variants. TGM1 was the most frequently mutated gene, accounting for 43.7% of patients suffering from autosomal recessive congenital ichthyosis (ARCI). Whole-exome sequencing appears an effective tool in disclosing the molecular cause of patients with hereditary ichthyosis seen in clinical practice and should be considered a first-tier genetic test in these patients. © 2018 European Academy of Dermatology and Venereology.

PALM-COEIN Nomenclature for Abnormal Uterine Bleeding.

Science.gov (United States)

Deneris, Angela

2016-05-01

Approximately 30% of women will experience abnormal uterine bleeding (AUB) during their life time. Previous terms defining AUB have been confusing and imprecisely applied. As a consequence, both clinical management and research on this common problem have been negatively impacted. In 2011, the International Federation of Gynecology and Obstetrics (FIGO) Menstrual Disorders Group (FMDG) published PALM-COEIN, a new classification system for abnormal bleeding in the reproductive years. Terms such as menorrhagia, menometrorrhagia, metrorrhagia, dysfunctional uterine bleeding, polymenorrhea, oligomenorrhea, and uterine hemorrhage are no longer recommended. The PALM-COEIN system was developed to standardize nomenclature to describe the etiology and severity of AUB. A brief description of the PALM-COEIN nomenclature is presented as well as treatment options for each etiology. Clinicians will frequently encounter women with AUB and should report findings utilizing the PALM-COEIN system. © 2016 by the American College of Nurse-Midwives.

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.

Science.gov (United States)

Newton, Timothy; Allison, Rachel; Edgar, James R; Lumb, Jennifer H; Rodger, Catherine E; Manna, Paul T; Rizo, Tania; Kohl, Zacharias; Nygren, Anders O H; Arning, Larissa; Schüle, Rebecca; Depienne, Christel; Goldberg, Lisa; Frahm, Christiane; Stevanin, Giovanni; Durr, Alexandra; Schöls, Ludger; Winner, Beate; Beetz, Christian; Reid, Evan

2018-05-01

Many genetic neurological disorders exhibit variable expression within affected families, often exemplified by variations in disease age at onset. Epistatic effects (i.e. effects of modifier genes on the disease gene) may underlie this variation, but the mechanistic basis for such epistatic interactions is rarely understood. Here we report a novel epistatic interaction between SPAST and the contiguous gene DPY30, which modifies age at onset in hereditary spastic paraplegia, a genetic axonopathy. We found that patients with hereditary spastic paraplegia caused by genomic deletions of SPAST that extended into DPY30 had a significantly younger age at onset. We show that, like spastin, the protein encoded by SPAST, the DPY30 protein controls endosomal tubule fission, traffic of mannose 6-phosphate receptors from endosomes to the Golgi, and lysosomal ultrastructural morphology. We propose that additive effects on this pathway explain the reduced age at onset of hereditary spastic paraplegia in patients who are haploinsufficient for both genes.

Startle responses in hereditary hyperekplexia

NARCIS (Netherlands)

Tijssen, M. A.; Voorkamp, L. M.; Padberg, G. W.; van Dijk, J. G.

1997-01-01

BACKGROUND: Patients with hereditary hyperekplexia have excessive startle responses that are accompanied by transient stiffness and also continuous stiffness in infancy. A point of mutation has been identified for the major form of hereditary hyperekplexia in the gene encoding the alpha 1 subunit of

Startle responses in hereditary hyperekplexia

NARCIS (Netherlands)

Tijssen, MAJ; Voorkamp, LM; Padberg, GW; vanDijk, JG

Background: Patients with hereditary hyperekplexia have excessive startle responses that are accompanied by transient stiffness and also continuous stiffness in infancy. A point of mutation has been identified for the major form of hereditary hyperekplexia in the gene encoding the alpha 1 subunit of

Challenges in the management of bleeding disorders in Nigeria ...

African Journals Online (AJOL)

Only 39.1% centers had factor concentrates available. Conclusion: Facilities required for diagnosing and treating BD are significantly deficient in most centers in Nigeria. Funding to provide facility and training is required to improve on this inadequacy. Keywords: Bleeding, hemophilia, thrombocytopenia, whole blood ...

The medical management of abnormal uterine bleeding in reproductive-aged women.

Science.gov (United States)

Bradley, Linda D; Gueye, Ndeye-Aicha

2016-01-01

In the treatment of women with abnormal uterine bleeding, once a thorough history, physical examination, and indicated imaging studies are performed and all significant structural causes are excluded, medical management is the first-line approach. Determining the acuity of the bleeding, the patient's medical history, assessing risk factors, and establishing a diagnosis will individualize their medical regimen. In acute abnormal uterine bleeding with a normal uterus, parenteral estrogen, a multidose combined oral contraceptive regimen, a multidose progestin-only regimen, and tranexamic acid are all viable options, given the appropriate clinical scenario. Heavy menstrual bleeding can be treated with a levonorgestrel-releasing intrauterine system, combined oral contraceptives, continuous oral progestins, and tranexamic acid with high efficacy. Nonsteroidal antiinflammatory drugs may be utilized with hormonal methods and tranexamic acid to decrease menstrual bleeding. Gonadotropin-releasing hormone agonists are indicated in patients with leiomyoma and abnormal uterine bleeding in preparation for surgical interventions. In women with inherited bleeding disorders all hormonal methods as well as tranexamic acid can be used to treat abnormal uterine bleeding. Women on anticoagulation therapy should consider using progestin-only methods as well as a gonadotropin-releasing hormone agonist to treat their heavy menstrual bleeding. Given these myriad options for medical treatment of abnormal uterine bleeding, many patients may avoid surgical intervention. Copyright © 2016 Elsevier Inc. All rights reserved.

Imaging features of type 1 hereditary tyrosinemia: a review of 30 patients

Energy Technology Data Exchange (ETDEWEB)

Dubois, J. [Department of Radiology, Hopital Sainte-Justine, Montreal, Que. (Canada); Garel, L. [Department of Radiology, Hopital Sainte-Justine, Montreal, Que. (Canada); Patriquin, H. [Department of Radiology, Hopital Sainte-Justine, Montreal, Que. (Canada); Paradis, K. [Department of Pediatrics, Gastroenterology, Universite de Montreal, Que. (Canada); Forget, S. [Department of Pediatrics, Gastroenterology, Universite de Montreal, Que. (Canada); Filiatrault, D. [Department of Radiology, Hopital Sainte-Justine, Montreal, Que. (Canada); Grignon, A. [Department of Radiology, Hopital Sainte-Justine, Montreal, Que. (Canada); Russo, P. [Department of Pathology, Hopital Sainte-Justine, Montreal, Que. (Canada); St-Vil, D. [Department of Surgery, Hopital Sainte-Justine, Montreal, Que. (Canada)

1996-12-01

Hereditary tyrosinemia type 1, a common genetic disorder in the province of Quebec, is characterized by a deficiency of fumarylacetoacetate hydrolase. In this autosomal recessive disorder of tyrosine metabolism, the accumulation of succinylacetone leads to neurologic crises, acute and chronic liver failure, complex renal tubulopathy, rickets and a hemorrhagic syndrome. Liver trans- plantation has dramatically modified the spontaneous course of this lethal disease. The present paper describes the imaging fea- tures of tyrosinemia in 30 patients followed from 1980 to 1995 at Hopital Sainte-Justine, Montreal, Canada. (orig.). With 10 figs., 2 tabs.

Radiological features of bilateral hereditary micro-epiphyseal dysplasia - a distinct entity in the skeletal dysplasias

NARCIS (Netherlands)

Morstert, AK; Dijkstra, PF; van Horn, [No Value; Jansen, BRH; Heutink, P; Lindhout, D

Aim: To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsbach in 1959 [1], is a distinct disorder radiologically as well as clinically, compared with multiple epiphyseal dysplasia (MED). Material and Methods: We used the data of the revised pedigree with 84

Vaginal Bleeding

Science.gov (United States)

... or period, is a woman's monthly bleeding.Abnormal vaginal bleeding is different from normal menstrual periods. It ... therapy) Cancer of the cervix, ovaries, uterus or vagina Thyroid problems Bleeding during pregnancy can have several ...

Role of stretch therapy in comprehensive physical habilitation of patients with Charcot–Marie–Tooth hereditary neuropathy

Directory of Open Access Journals (Sweden)

N. A. Shnayder

2015-01-01

Full Text Available Charcot–Marie–Tooth hereditary neuropathy (Charcot–Marie–Tooth disease, CMT is the most common form of hereditary neuropathies, accompanied by sensory disorders, progressive muscle weakness with the formation of disabling contractures of the limbs. Currently, the main treatment program is effective CMT habilitation, which can prevent the development of limb deformities and thereby improve the life quality of the patient. Stretch therapy is one of the most effective methods of prevention and treatment of contractures in patients with CMT. This article provides a brief review of the literature regarding the use of stretching as physical therapy program of CMT habilitation.

Abnormal uterine bleeding

Science.gov (United States)

Anovulatory bleeding; Abnormal uterine bleeding - hormonal; Polymenorrhea - dysfunctional uterine bleeding ... ACOG committee opinion no. 557: Management of acute abnormal uterine bleeding in nonpregnant reproductive-aged women. Reaffirmed 2015. www. ...

Cardiac arrest after anesthetic management in a patient with hereditary sensory autonomic neuropathy type IV

Directory of Open Access Journals (Sweden)

Yakup Ergül

2011-01-01

Full Text Available Hereditary sensory autonomic neuropathy type IV is a rare disorder with an autosomal recessive transmission and characterized by self-mutilation due to a lack in pain and heat sensation. Recurrent hyperpyrexia and anhydrosis are seen in patients as a result of a lack of sweat gland innervation. Self-mutilation and insensitivity to pain result in orthopedic complications and patients undergone recurrent surgical interventions with anesthesia. However, these patients are prone to perioperative complications such as hyperthermia, hypothermia, and cardiac complications like bradycardia and hypotension. We report a 5-year-old boy with hereditary sensory autonomic neuropathy type IV, developing hyperpyrexia and cardiac arrest after anesthesia.

Cardiac arrest after anesthetic management in a patient with hereditary sensory autonomic neuropathy type IV.

Science.gov (United States)

Ergül, Yakup; Ekici, Bariş; Keskin, Sabiha

2011-01-01

Hereditary sensory autonomic neuropathy type IV is a rare disorder with an autosomal recessive transmission and characterized by self-mutilation due to a lack in pain and heat sensation. Recurrent hyperpyrexia and anhydrosis are seen in patients as a result of a lack of sweat gland innervation. Self-mutilation and insensitivity to pain result in orthopedic complications and patients undergone recurrent surgical interventions with anesthesia. However, these patients are prone to perioperative complications such as hyperthermia, hypothermia, and cardiac complications like bradycardia and hypotension. We report a 5-year-old boy with hereditary sensory autonomic neuropathy type IV, developing hyperpyrexia and cardiac arrest after anesthesia.

Ibrutinib-associated bleeding: pathogenesis, management and risk reduction strategies.

Science.gov (United States)

Shatzel, J J; Olson, S R; Tao, D L; McCarty, O J T; Danilov, A V; DeLoughery, T G

2017-05-01

Ibrutinib is an irreversible inhibitor of Bruton's tyrosine kinase (Btk) that has proven to be an effective therapeutic agent for multiple B-cell-mediated lymphoproliferative disorders. Ibrutinib, however, carries an increased bleeding risk compared with standard chemotherapy. Bleeding events range from minor mucocutaneous bleeding to life-threatening hemorrhage, due in large part to the effects of ibrutinib on several distinct platelet signaling pathways. There is currently a minimal amount of data to guide clinicians regarding the use of ibrutinib in patients at high risk of bleeding or on anticoagulant or antiplatelet therapy. In addition, the potential cardiovascular protective effects of ibrutinib monotherapy in patients at risk of vascular disease are unknown. Patients should be cautioned against using non-steroidal anti-inflammatory drugs, fish oils, vitamin E and aspirin-containing products, and consider replacing ibrutinib with a different agent if dual antiplatelet therapy is indicated. Patients should not take vitamin K antagonists concurrently with ibrutinib; direct oral anticoagulants should be used if extended anticoagulation is strongly indicated. In this review, we describe the pathophysiology of ibrutinib-mediated bleeding and suggest risk reduction strategies for common clinical scenarios associated with ibrutinib. © 2017 International Society on Thrombosis and Haemostasis.

Histopathological pattern of abnormal uterine bleeding in endometrial biopsies.

Science.gov (United States)

Vaidya, S; Lakhey, M; Vaidya, S; Sharma, P K; Hirachand, S; Lama, S; KC, S

2013-03-01

Abnormal uterine bleeding is a common presenting complaint in gyanecology out patient department. Histopathological evaluation of the endometrial samples plays a significant role in the diagnosis of abnormal uterine bleeding. This study was carried out to determine the histopathological pattern of the endometrium in women of various age groups presenting with abnormal uterine bleeding. Endometrial biopsies and curettings of patients presenting with abnormal uterine bleeding was retrospectively studied. A total of 403 endometrial biopsies and curettings were analyzed. The age of the patients ranged from 18 to 70 years. Normal cyclical endometrium was seen in 165 (40.94%) cases, followed by 54 (13.40%) cases of disordered proliferative endometrium and 44 (10.92%) cases of hyperplasia. Malignancy was seen in 10 (2.48%) cases. Hyperplasia and malignancy were more common in the perimenopausal and postmenopausal age groups. Histopathological examination of endometrial biopsies and curettings in patients presenting with abnormal uterine bleeding showed a wide spectrum of changes ranging from normal endometrium to malignancy. Endometrial evaluation is specially recommended in women of perimenopausal and postmenopausal age groups presenting with AUB, to rule out a possibility of any preneoplastic condition or malignancy.

Atypical hereditary sensory and autonomic neuropathy type IV with neither mental retardation nor pain insensitivity.

Science.gov (United States)

Jung, Chae Lim; Ki, Chang-Seok; Kim, Byoung Joon; Lee, Jong-Hyuck; Sung, Ki-Sun; Kim, Jong-Won; Park, Youn-Soo

2013-12-01

Hereditary sensory and autonomic neuropathy type IV is an autosomal recessive disorder characterized by severe mental retardation and self-mutilation-related complications. Recently, we investigated a 16-year-old Korean boy with normal intelligence. He had preserved pain sensation but was suspected of having hereditary sensory and autonomic neuropathy type IV because of the recurrent bone fractures and painless joint destruction in the absence of any predisposing medical conditions. Genetic analysis of the NTRK1 gene revealed compound heterozygous mutations including c.851-33T>A and c.2303C>T (p.Pro768Leu) in the NTRK1 gene. The p.Pro768Leu mutation has been identified in 2 Japanese patients with a mild phenotype. Therefore, although it is rare, hereditary sensory and autonomic neuropathy type IV should be considered in patients with recurrent bone fractures and painless joint destruction who do not have any predisposing conditions even when they do not have typical clinical features such as mental retardation or pain insensitivity.

Performance of upper gastrointestinal bleeding risk assessment scores in variceal bleeding

DEFF Research Database (Denmark)

Ngu, JH; Laursen, Stig Borbjerg; Chin, YK

2017-01-01

Performance of upper gastrointestinal bleeding risk assessment scores in variceal bleeding: a prospective international multicenter study.......Performance of upper gastrointestinal bleeding risk assessment scores in variceal bleeding: a prospective international multicenter study....

Hereditary angioedema

Science.gov (United States)

... disease; HAE- Hereditary angioedema; Kallikrein inhibitor-HAE: bradykinin receptor antagonist-HAE; C1-inhibitors-HAE; Hives-HAE ... aunt, uncle, or grandparent. Dental procedures, sickness (including colds and the flu), and surgery may trigger HAE ...

Prolonged bleeding on the neck in leech therapy: Case report

Directory of Open Access Journals (Sweden)

Atakan Savrun

2015-12-01

Full Text Available Superficial skin bleeding can usually be stopped by applying short-time compression, unless the patient suffers from coagulation disorders or uses anticoagulant. Because of the anticoagulant component of leech saliva, a leech bite may cause long-time bleeding, which cannot be stopped via compression. In this study, the case of a patient who applied leech therapy on her neck for the treatment of migraine has been presented. [Arch Clin Exp Surg 2015; 4(4.000: 234-237

The molecular classification of hereditary endocrine diseases.

Science.gov (United States)

Ye, Lei; Ning, Guang

2015-12-01

Hereditary endocrine diseases are an important group of diseases with great heterogeneity. The current classification for hereditary endocrine disease is mostly based upon anatomy, which is helpful for pathophysiological interpretation, but does not address the pathogenic variability associated with different underlying genetic causes. Identification of an endocrinopathy-associated genetic alteration provides evidence for differential diagnosis, discovery of non-classical disease, and the potential for earlier diagnosis and targeted therapy. Molecular diagnosis should be routinely applied when managing patients with suspicion of hereditary disease. To enhance the accurate diagnosis and treatment of patients with hereditary endocrine diseases, we propose categorization of endocrine diseases into three groups based upon the function of the mutant gene: cell differentiation, hormone synthesis and action, and tumorigenesis. Each category was further grouped according to the specific gene function. We believe that this format would facilitate practice of precision medicine in the field of hereditary endocrine diseases.

Hereditary haemorrhagic telangiectasia: a cause of preventable morbidity and mortality.

LENUS (Irish Health Repository)

Brady, A P

2012-01-31

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant condition whose effects are mediated through deficient blood vessel formation and regeneration, with multisystem involvement. Patients are usually aware of resulting skin telangiectasia and epistaxis, but are also exposed to dangers posed by occult vascular malformations in other organs. About 15-35% of HHT patients have pulmonary AVMs (PAVMs), 10% have cerebral AVMs (CAVMs), 25-33% suffer significant GI blood loss from GI tract telangiectasia, and an unknown but high percentage have liver involvement. In total, 10% of affected individuals die prematurely or suffer major disability from HHT, largely because of bleeding from CAVMs and PAVMs, or paradoxical embolization through PAVMs. Screening for and early intervention to treat occult PAVMs and CAVMs can largely eliminate these risks, and should be undertaken in a specialist centre. The National HHT Center in The Mercy University Hospital in Cork is the referral centre for HHT screening in Ireland.

Hereditary motor and sensory neuropathy with proximal predominance (HMSN-P).

Science.gov (United States)

Campellone, Joseph V

2013-06-01

Hereditary motor and sensory neuropathy with proximal predominance (HMSN-P) is a rare disorder inherited in an autosomal dominant fashion. Patients present with slowly progressive proximal-predominant weakness, painful muscle cramps, fasciculations, large-fiber sensory loss, and areflexia. Electrodiagnostic (EDX) studies typically reveal abnormalities consistent with a sensorimotor neuronopathy. A patient with HMSN-P underwent EDX studies, revealing ongoing and chronic neurogenic denervation, motor unit instability, and neuromyotonic discharges, further defining the spectrum of EDX findings in HMSN-P. The clinical, pathological, and genetic features are also reviewed. The appearance of HMSN-P in the United States and elsewhere calls for clinicians in nonendemic regions to be familiar with this rare disorder, which has typically been geographically confined.

Different doses of prophylactic platelet transfusion for preventing bleeding in people with haematological disorders after myelosuppressive chemotherapy or stem cell transplantation

Science.gov (United States)

Estcourt, Lise J; Stanworth, Simon; Doree, Carolyn; Trivella, Marialena; Hopewell, Sally; Blanco, Patricia; Murphy, Michael F

2015-01-01

Background Platelet transfusions are used in modern clinical practice to prevent and treat bleeding in people who are thrombocytopenic due to bone marrow failure. Although considerable advances have been made in platelet transfusion therapy in the last 40 years, some areas continue to provoke debate, especially concerning the use of prophylactic platelet transfusions for the prevention of thrombocytopenic bleeding. This is an update of a Cochrane review first published in 2004, and updated in 2012 that addressed four separate questions: prophylactic versus therapeutic-only platelet transfusion policy; prophylactic platelet transfusion threshold; prophylactic platelet transfusion dose; and platelet transfusions compared to alternative treatments. This review has now been split into four smaller reviews; this review compares different platelet transfusion doses. Objectives To determine whether different doses of prophylactic platelet transfusions (platelet transfusions given to prevent bleeding) affect their efficacy and safety in preventing bleeding in people with haematological disorders undergoing myelosuppressive chemotherapy with or without haematopoietic stem cell transplantation (HSCT). Search methods We searched for randomised controlled trials in the Cochrane Central Register of Controlled Trials (CENTRAL) (Cochrane Library 2015, Issue 6), MEDLINE (from 1946), Embase (from 1974), CINAHL (from 1937), the Transfusion Evidence Library (from 1950), and ongoing trial databases to 23 July 2015. Selection criteria Randomised controlled trials involving transfusions of platelet concentrates, prepared either from individual units of whole blood or by apheresis, and given to prevent bleeding in people with malignant haematological disorders or undergoing HSCT that compared different platelet component doses (low dose 1.1 × 1011/m2 ± 25%, standard dose 2.2 × 1011/m2 ± 25%, high dose 4.4 × 1011/m2 ± 25%). Data collection and analysis We used the standard

Inflammation and neuropathic attacks in hereditary brachial plexus neuropathy

Science.gov (United States)

Klein, C; Dyck, P; Friedenberg, S; Burns, T; Windebank, A; Dyck, P

2002-01-01

Objective: To study the role of mechanical, infectious, and inflammatory factors inducing neuropathic attacks in hereditary brachial plexus neuropathy (HBPN), an autosomal dominant disorder characterised by attacks of pain and weakness, atrophy, and sensory alterations of the shoulder girdle and upper limb muscles. Methods: Four patients from separate kindreds with HBPN were evaluated. Upper extremity nerve biopsies were obtained during attacks from a person of each kindred. In situ hybridisation for common viruses in nerve tissue and genetic testing for a hereditary tendency to pressure palsies (HNPP; tomaculous neuropathy) were undertaken. Two patients treated with intravenous methyl prednisolone had serial clinical and electrophysiological examinations. One patient was followed prospectively through pregnancy and during the development of a stereotypic attack after elective caesarean delivery. Results: Upper extremity nerve biopsies in two patients showed prominent perivascular inflammatory infiltrates with vessel wall disruption. Nerve in situ hybridisation for viruses was negative. There were no tomaculous nerve changes. In two patients intravenous methyl prednisolone ameliorated symptoms (largely pain), but with tapering of steroid dose, signs and symptoms worsened. Elective caesarean delivery did not prevent a typical postpartum attack. Conclusions: Inflammation, probably immune, appears pathogenic for some if not all attacks of HBPN. Immune modulation may be useful in preventing or reducing the neuropathic attacks, although controlled trials are needed to establish efficacy, as correction of the mutant gene is still not possible. The genes involved in immune regulation may be candidates for causing HBPN disorders. PMID:12082044

Splenic Involvement in Hereditary Hemorrhagic Telangiectasia

Directory of Open Access Journals (Sweden)

Susumu Takamatsu

2016-01-01

Full Text Available A 33-year-old man who presented with prolonged epigastric pain was referred to our hospital. He had experienced recurrent epistaxis and had a family history of hereditary hemorrhagic telangiectasia. Computed tomography and magnetic resonance imaging revealed splenomegaly and a 9 cm hypervascular mass in his spleen. Computed tomography also showed a pulmonary arteriovenous malformation and heterogeneous enhancement of the liver parenchyma, suggesting the presence of arteriosystemic shunts and telangiectases. Based on these findings, the patient was definitely diagnosed with hereditary hemorrhagic telangiectasia according to Curaçao criteria. He underwent splenectomy, and his symptoms disappeared after surgery. Pathological examination of the resected specimen revealed that the hypervascular lesion of the spleen was not a tumor but was composed of abnormal vessels associated with hereditary hemorrhagic telangiectasia. Symptomatic splenic involvement may be a rare manifestation of hereditary hemorrhagic telangiectasia but can be revealed by imaging modalities.

Fibrinogen-coated albumin microcapsules reduce bleeding in severely thrombocytopenic rabbits

NARCIS (Netherlands)

Levi, M. [=Marcel M.; Friederich, P. W.; Middleton, S.; de Groot, P. G.; Wu, Y. P.; Harris, R.; Biemond, B. J.; Heijnen, H. F.; Levin, J.; ten Cate, J. W.

1999-01-01

Severe thrombocytopenia frequently occurs in patients receiving chemotherapy and in patients with autoimmune disorders. Thrombocytopenia is associated with bleeding, which may be serious and life threatening. Current treatment strategies for thrombocytopenia may require transfusion of allogeneic

Endocrine carcinoma of the pancreatic tail exhibiting gastric variceal bleeding

Directory of Open Access Journals (Sweden)

Si-Yuan Wu

2014-01-01

Full Text Available Nonfunctional endocrine carcinoma of the pancreas is uncommon. Without excess hormone secretion, it is clinically silent until the enlarging or metastatic tumor causes compressive symptoms. Epigastric pain, dyspepsia, jaundice, and abdominal mass are the usual symptoms, whereas upper gastrointestinal (GI bleeding is rare. Here, we describe the case of a 24-year-old man with the chief complaint of hematemesis. Upper GI panendoscopy revealed isolated gastric varices at the fundus and upper body. Ultrasonography and computed tomography showed a tumor mass at the pancreatic tail causing a splenic vein obstruction, engorged vessels near the fundus of the stomach, and splenomegaly. After distal pancreatectomy and splenectomy, the bleeding did not recur. The final pathologic diagnosis was endocrine carcinoma of the pancreas. Gastric variceal bleeding is a possible manifestation of nonfunctional endocrine carcinoma of the pancreas if the splenic vein is affected by a tumor. In non-cirrhotic patients with isolated gastric variceal bleeding, the differential diagnosis should include pancreatic disorders.

Genetics Home Reference: hereditary hemorrhagic telangiectasia

Science.gov (United States)

... Central OMIM: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME McDonald J, Bayrak-Toydemir P, Pyeritz RE. Hereditary hemorrhagic ... 10.1097/GIM.0b013e3182136d32. Review. Citation on PubMed McDonald J, Wooderchak-Donahue W, VanSant Webb C, Whitehead ...

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.

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Dupré, Nicolas; Howard, Heidi C; Mathieu, Jean; Karpati, George; Vanasse, Michel; Bouchard, Jean-Pierre; Carpenter, Stirling; Rouleau, Guy A

2003-07-01

Hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (OMIM 218000) is an autosomal recessive disease of early onset characterized by a delay in developmental milestones, a severe sensory-motor polyneuropathy with areflexia, a variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment. Although this disorder has rarely been reported worldwide, it has a high prevalence in the Saguenay-Lac-St-Jean region of the province of Quebec (Canada) predominantly because of a founder effect. The gene defect responsible for this disorder recently has been identified, and it is a protein-truncating mutation in the SLC12A6 gene, which codes for a cotransporter protein known as KCC3. Herein, we provide the first extensive review of this disorder, covering epidemiological, clinical, and molecular genetic studies.

Defective fluid shear stress mechanotransduction mediates hereditary hemorrhagic telangiectasia

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Baeyens, Nicolas; Larrivée, Bruno; Ola, Roxana; Hayward-Piatkowskyi, Brielle; Dubrac, Alexandre; Huang, Billy; Ross, Tyler D.; Coon, Brian G.; Min, Elizabeth; Tsarfati, Maya; Tong, Haibin; Eichmann, Anne

2016-01-01

Morphogenesis of the vascular system is strongly modulated by mechanical forces from blood flow. Hereditary hemorrhagic telangiectasia (HHT) is an inherited autosomal-dominant disease in which arteriovenous malformations and telangiectasias accumulate with age. Most cases are linked to heterozygous mutations in Alk1 or Endoglin, receptors for bone morphogenetic proteins (BMPs) 9 and 10. Evidence suggests that a second hit results in clonal expansion of endothelial cells to form lesions with poor mural cell coverage that spontaneously rupture and bleed. We now report that fluid shear stress potentiates BMPs to activate Alk1 signaling, which correlates with enhanced association of Alk1 and endoglin. Alk1 is required for BMP9 and flow responses, whereas endoglin is only required for enhancement by flow. This pathway mediates both inhibition of endothelial proliferation and recruitment of mural cells; thus, its loss blocks flow-induced vascular stabilization. Identification of Alk1 signaling as a convergence point for flow and soluble ligands provides a molecular mechanism for development of HHT lesions. PMID:27646277

Therapeutic avenues for hereditary forms of retinal blindness.

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Kannabiran, Chitra; Mariappan, Indumathi

2018-03-01

Hereditary retinal diseases, known as retinal degenerations or dystrophies, are a large group of inherited eye disorders resulting in irreversible visual loss and blindness. They develop due to mutations in one or more genes that lead to the death of the retinal photoreceptor cells. Till date, mutations in over 200 genes are known to be associated with all different forms of retinal disorders. The enormous genetic heterogeneity of this group of diseases has posedmany challenges in understanding the mechanisms of disease and in developing suitable therapies. Therapeutic avenues that are being investigated for these disorders include gene therapy to replace the defective gene, treatment with neurotrophic factors to stimulate the growth of photoreceptors, cell replacement therapy, and prosthetic devices that can capture light and transmit electrical signals through retinal neurons to the brain. Several of these are in process of human trials in patients, and have shown safety and efficacy of the treatment. A combination of approaches that involve both gene replacement and cell replacement may be required for optimum benefit.

Management of abnormal uterine bleeding – focus on ambulatory hysteroscopy

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Kolhe S

2018-03-01

Full Text Available Shilpa Kolhe Ambulatory Gynaecology Unit, Royal Derby Hospital, Derby, UK Abstract: The rapid evolution in ambulatory hysteroscopy (AH has transformed the approach to diagnose and manage abnormal uterine bleeding (AUB. The medical management in primary care remains the mainstay for initial treatment of this common presentation; however, many women are referred to secondary care for further evaluation. To confirm the diagnosis of suspected intrauterine pathology, the traditional diagnostic tool of day case hysteroscopy and dilatation and curettage in a hospital setting under general anesthesia is now no longer required. The combination of ultrasound diagnostics and modern AH now allows thorough evaluation of uterine cavity in an outpatient setting. Advent of miniature hysteroscopic operative systems has revolutionized the ways in which clinicians can not only diagnose but also treat menstrual disorders such as heavy menstrual bleeding, intermenstrual bleeding and postmenopausal bleeding in most women predominantly in a one-stop clinic. This review discussed the approach to manage women presenting with AUB with a focus on the role of AH in the diagnosis and treatment of this common condition in an outpatient setting. Keywords: abnormal uterine bleeding, ambulatory hysteroscopy, endometrial polyps, one-stop clinic, vaginoscopic approach

[Hereditary factors in attention deficit hyperactivity disorder

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Fliers, E.A.; Franke, B.

2005-01-01

Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by concentration problems, hyperactivity and impulsivity. Disturbances in dopamine and/or noradrenalin neurotransmission are probably the underlying pathophysiological mechanisms of ADHD. Around 80% of

Hereditary neuropathies: systematization and diagnostics (clinical case of hereditary motor and sensor neuropathy of the IA type

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Kolokolova A.M.

2016-09-01

Full Text Available Aim: to study the value of routine methods (clinical symptoms, electrophysiological findings and results of DNA analysis in diagnostics of hereditary motor sensory neuropathy type IA in outpatient clinics. Material and Methods. The review of foreign literature is represented. The phenotypic polymorphism, genetic heterogeneity and the difficulties of diagnostics are identified. A family with hereditary motor sensory neuropathy of lAtype is presented, which was diagnosed on the base of available methods in outpatient practice (clinical symptoms, genealogical method, electro-physiological findings and DNA analysis results. Results. Routine algorithm (consistent valuation of clinical symptoms, neurophysiologic findings and the results of DNA analysis helped to verify the diagnosis of hereditary motor sensory neuropathy of lAtype in outpatient practice after more than 20 years of the onset of the disease. Conclusion. The neurologists of outpatient clinics and other specialists must be informed about the availability of diagnostics of hereditary diseases of nervous system.

Neonatal hemophilia: a rare presentation

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Nuno Ferreira

2015-12-01

Full Text Available Hemophilia A is a X-linked hereditary condition that lead to decreased factor VIII activity, occurs mainly in males. Decreased factor VIII activity leads to increased risk of bleeding events. During neonatal period, diagnosis is made after post-partum bleeding complication or unexpected bleeding after medical procedures. Subgaleal hemorrhage during neonatal period is a rare, severe extracranial bleeding with high mortality and usually related to traumatic labor or coagulation disorders. Subgaleal hemorrhage complications result from massive bleeding. We present a neonate with unremarkable family history and uneventful pregnancy with a vaginal delivery with no instrumentation, presenting with severe subgaleal bleeding at 52 hours of life. Aggressive support measures were implemented and bleeding managed. The unexpected bleeding lead to a coagulation study and the diagnosis of severe hemophilia A. There were no known sequelae. This case shows a rare hemophilia presentation reflecting the importance of coagulation studies when faced with unexplained severe bleeding.

Seroprevalence of hepatitis C, hepatitis B and HIV viruses in hemophiliacs born 1985-2010 in west Azarbaijan of Iran

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Nasim Valizadeh

2013-01-01

Full Text Available Background: Although, in the past the risk of transfusion transmitted viral infections were high in hemophilia patients, but introduction of viral inactivation methods in1985,decreased the risk of human immunodeficiency and hepatitis C and B viruses transmission significantly. The aim of study was seroprevalence of hepatitis B surface antigen (HBs Ag, hepatitis C virus antibody (HCV Ab and human immunodeficiency virus antibody (HIVAb in hemophiliacs in west Azarbaijan of Iran, born in 1985-2010. Materials and Methods: In a cross-sectional study, fifty patients with hereditary bleeding disorders born in 1985-2010, from total 250 patients who had been registered in Urmia Hemophilia Society were enrolled through the year 2010 to assess their seroprevalence for HCV Ab, HIV Ab and HBs Ag. Thirty five of 50 patients had hemophilia. Also; we performed a subset analysis for hemophilia patients. Results: All 50 patients with hereditary bleeding disorders including 35 patients with hemophilia were seronegative for HIV Ab and HBs Ag. HCV-Ab was detected in serum of 3 of 50 (6% patients with bleeding disorders. After subset analysis for hemophilia (A and B patients, we found HCV infection in 8.57% (3 of 35 of hemophiliacs. Conclusion: In this study prevalence of HCV infection was very smaller than similar studies in Iran and other countries. This study shows the safety of using viral inactivated factor concentrates and recombinant factors after year 1985.None of Hemophiliacs were seropositive for HIV Ab and HBs Ag.

Genetics Home Reference: hereditary diffuse gastric cancer

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... Health Conditions Hereditary diffuse gastric cancer Hereditary diffuse gastric cancer Printable PDF Open All Close All Enable Javascript ... Diffuse Gastric Cancer MedlinePlus Encyclopedia: Gastric Cancer National Cancer ... Option Overview General Information from MedlinePlus ( ...

Drug therapy for hereditary cancers

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Imyanitov Evgeny N

2011-08-01

Full Text Available Abstract Tumors arising in patients with hereditary cancer syndromes may have distinct drug sensitivity as compared to their sporadic counterparts. Breast and ovarian neoplasms from BRCA1 or BRCA2 mutation carriers are characterized by deficient homologous recombination (HR of DNA, that makes them particularly sensitive to platinum compounds or inhibitors of poly (ADP-ribose polymerase (PARP. Outstandingly durable complete responses to high dose chemotherapy have been observed in several cases of BRCA-related metastatic breast cancer (BC. Multiple lines of evidence indicate that women with BRCA1-related BC may derive less benefit from taxane-based treatment than other categories of BC patients. There is virtually no reports directly assessing drug response in hereditary colorectal cancer (CRC patients; studies involving non-selected (i.e., both sporadic and hereditary CRC with high-level microsatellite instability (MSI-H suggest therapeutic advantage of irinotecan. Celecoxib has been approved for the treatment of familial adenomatous polyposis (FAP. Hereditary medullary thyroid cancers (MTC have been shown to be highly responsive to a multitargeted tyrosine kinase inhibitor vandetanib, which exerts specific activity towards mutated RET receptor. Given the rapidly improving accessibility of DNA analysis, it is foreseen that the potential predictive value of cancer-associated germ-line mutations will be increasingly considered in the future studies.

Genetic profiles distinguish different types of hereditary ovarian cancer

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Domanska, Katarina; Malander, Susanne; Staaf, Johan

2010-01-01

(HBOC) syndrome and the hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Genome-wide array comparative genomic hybridization was applied to 12 HBOC associated tumors with BRCA1 mutations and 8 HNPCC associated tumors with mismatch repair gene mutations with 24 sporadic ovarian cancers......Heredity represents the strongest risk factor for ovarian cancer with disease predisposing mutations identified in 15% of the tumors. With the aim to identify genetic classifiers for hereditary ovarian cancer, we profiled hereditary ovarian cancers linked to the hereditary breast and ovarian cancer...... that HBOC and HNPCC associated ovarian cancer develop along distinct genetic pathways and genetic profiles can thus be applied to distinguish between different types of hereditary ovarian cancer....

Current concepts in the treatment of hereditary ataxias

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Pedro Braga Neto

2016-03-01

Full Text Available ABSTRACT Hereditary ataxias (HA represents an extensive group of clinically and genetically heterogeneous neurodegenerative diseases, characterized by progressive ataxia combined with extra-cerebellar and multi-systemic involvements, including peripheral neuropathy, pyramidal signs, movement disorders, seizures, and cognitive dysfunction. There is no effective treatment for HA, and management remains supportive and symptomatic. In this review, we will focus on the symptomatic treatment of the main autosomal recessive ataxias, autosomal dominant ataxias, X-linked cerebellar ataxias and mitochondrial ataxias. We describe management for different clinical symptoms, mechanism-based approaches, rehabilitation therapy, disease modifying therapy, future clinical trials and perspectives, genetic counseling and preimplantation genetic diagnosis.

Hereditary sensory neuropathy type I

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Auer-Grumbach Michaela

2008-03-01

Full Text Available Abstract Hereditary sensory neuropathy type I (HSN I is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. The exact prevalence is unknown, but is estimated as very low. Disease onset varies between the 2nd and 5th decade of life. The main clinical feature of HSN I is the reduction of sensation sense mainly distributed to the distal parts of the upper and lower limbs. Variable distal muscle weakness and wasting, and chronic skin ulcers are characteristic. Autonomic features (usually sweating disturbances are invariably observed. Serious and common complications are spontaneous fractures, osteomyelitis and necrosis, as well as neuropathic arthropathy which may even necessitate amputations. Some patients suffer from severe pain attacks. Hypacusis or deafness, or cough and gastrooesophageal reflux have been observed in rare cases. HSN I is a genetically heterogenous condition with three loci and mutations in two genes (SPTLC1 and RAB7 identified so far. Diagnosis is based on the clinical observation and is supported by a family history. Nerve conduction studies confirm a sensory and motor neuropathy predominantly affecting the lower limbs. Radiological studies, including magnetic resonance imaging, are useful when bone infections or necrosis are suspected. Definitive diagnosis is based on the detection of mutations by direct sequencing of the SPTLC1 and RAB7 genes. Correct clinical assessment and genetic confirmation of the diagnosis are important for appropriate genetic counselling and prognosis. Differential diagnosis includes the other hereditary sensory and autonomic neuropathies (HSAN, especially HSAN II, as well as diabetic foot syndrome, alcoholic neuropathy, neuropathies caused by other neurotoxins/drugs, immune mediated neuropathy, amyloidosis, spinal cord diseases, tabes dorsalis, lepra

Hereditary sensory neuropathy type I.

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Auer-Grumbach, Michaela

2008-03-18

Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. The exact prevalence is unknown, but is estimated as very low. Disease onset varies between the 2nd and 5th decade of life. The main clinical feature of HSN I is the reduction of sensation sense mainly distributed to the distal parts of the upper and lower limbs. Variable distal muscle weakness and wasting, and chronic skin ulcers are characteristic. Autonomic features (usually sweating disturbances) are invariably observed. Serious and common complications are spontaneous fractures, osteomyelitis and necrosis, as well as neuropathic arthropathy which may even necessitate amputations. Some patients suffer from severe pain attacks. Hypacusis or deafness, or cough and gastrooesophageal reflux have been observed in rare cases. HSN I is a genetically heterogenous condition with three loci and mutations in two genes (SPTLC1 and RAB7) identified so far. Diagnosis is based on the clinical observation and is supported by a family history. Nerve conduction studies confirm a sensory and motor neuropathy predominantly affecting the lower limbs. Radiological studies, including magnetic resonance imaging, are useful when bone infections or necrosis are suspected. Definitive diagnosis is based on the detection of mutations by direct sequencing of the SPTLC1 and RAB7 genes. Correct clinical assessment and genetic confirmation of the diagnosis are important for appropriate genetic counselling and prognosis. Differential diagnosis includes the other hereditary sensory and autonomic neuropathies (HSAN), especially HSAN II, as well as diabetic foot syndrome, alcoholic neuropathy, neuropathies caused by other neurotoxins/drugs, immune mediated neuropathy, amyloidosis, spinal cord diseases, tabes dorsalis, lepra neuropathy, or decaying skin

Hereditary spherocytosis: Consequences of delayed diagnosis

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Sarah C Steward

2014-08-01

Full Text Available Objective: To determine whether patients with undiagnosed hereditary spherocytosis hospitalized for transfusions might have avoided hospitalization via earlier diagnosis. Study design: Charts of all (N = 30 patients with hereditary spherocytosis seen in pediatric hematology at West Virginia University-Charleston were reviewed. Family and transfusion history and presence of neonatal jaundice were recorded. Complete blood count and reticulocyte values during infancy were available for 20 of 30 patients, while baseline steady-state values were available for all 30. Results: Transfusions were given to 22 patients; 12 of 14 with an aplastic crisis were undiagnosed. In 10 of 12, the severity of anemia led to hospitalization (3 to intensive care. All 10 had prior mean corpuscular hemoglobin concentration and/or red cell distribution width elevations and a history of neonatal jaundice; 7 of 10 had a positive family history. Conclusions: Undiagnosed hereditary spherocytosis may lead to inpatient transfusions for severe anemia. Earlier detection of hereditary spherocytosis is easily achievable and may reduce hospitalizations via closer monitoring.

Kindler syndrome - a rare type of hereditary epidermolysis bullosa

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V. I. Albanova

2015-01-01

Full Text Available The Kindler syndrome is one of the types of hereditary epidermolysis bullosa with its onset related to mutations of the KIND1 gene. The authors describe a case of a family with three members suffering from this rare disease. All of these patients have typical clinical manifestations of the Kindler syndrome such as the formation of blisters on the skin and mucous membranes right after the birth, scarring with the formation of contractures, pseudosyndactyly, microstomia and ankyloglossia, progressive poikiloderma, photosensibility, affections of the gastrointestinal tract - dysphagia, esophagostenosis, stool disorders, dental pathology, phimosis vaginalis in women.

Determinants and modifiers of bleeding phenotypes in haemophilia-A: General and tropical perspectives

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Umma A. Ibrahim

2018-07-01

Full Text Available Haemophilia-A is an X-linked recessive bleeding disorder characterized by deficiency of FVIII. Although severity of haemophilia is largely determined by the extent to which different mutations abolish FVIII production, the overall phenotypic variations among haemophiliacs is determined by a combination of several other factors, which range from general to tropical factors on the one hand, and from genetic to immunologic and infective factors on the other hand. Determinants and modifiers of haemophilic bleeding phenotypes are important predictors of prognosis. However, tropical determinants of haemophilic bleeding phenotypes are virtually ignored because majority of haemophilia research originated from developed non-tropical countries. The aim of this paper is to present a balanced review of the haemophilic bleeding phenotypes from general and tropical perspectives. Hence, we present a concisely updated comprehensive review of the pathophysiologic and clinical significance of general vis-à-vis tropical determinants and modifiers of haemophilic bleeding phenotypes from genetic, immunologic and infective perspectives. Understanding of general phenotypic determinants such as FVIII gene mutations, immunological (inhibitors and infective (e.g. hepatitis and HIV complications, classical thrombophilias (e.g. FV-Leiden and non-classical thrombophilias (e.g. non-O blood groups will throw more light into the mechanisms by which some tropical prothrombotic gene mutations (such as sickle β-globin gene and certain chronic tropical pro-haemorrhagic parasitic infections (such as urinary and gastrointestinal helminthiasis may modify frequency, intensity and pattern of bleeding among haemophiliacs in the tropics. The clinical significance of iron deficiency within the context of helminthiasis and haemophilia is also reviewed. More research is needed to determine the precise effect of non-classical thrombophilias such as sickling disorders and ABO blood groups

Hereditary sensory and autonomic neuropathy type IV and orthopaedic complications.

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Kim, W; Guinot, A; Marleix, S; Chapuis, M; Fraisse, B; Violas, P

2013-11-01

Hereditary sensory and autonomic neuropathy type IV (HSAN-IV) is a very rare autosomal recessive disorder characterized by recurrent episodes of unexplained fever, extensive anhidrosis, total insensitivity to pain, hypotonia, and mental retardation. The most frequent complications of this disease are corneal scarring, multiple fractures, joint deformities, osteomyelitis, and disabling self-mutilations. We reported the case of a 12-year-old boy. The goal was to discuss our decision-making and compare this case with cases described in the literature. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Postmenopausal bleeding: causes and risk of genital tract malignancy

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Dawood, N.S.; Peter, K.; Ibrar, F.; Dawood, A.

2010-01-01

Background: Postmenopausal bleeding (PMB) is bleeding occurring after 6-12 months of amenorrhea in a woman of age where the menopause can be expected. Objectives of this study were to ascertain various causes and prevalence of genital organ malignancy in patients presenting with postmenopausal bleeding. Methods: A prospective observational study carried out in the Department of Obstetrics and Gynaecology, Fauji Foundation Hospital, Rawalpindi comprising of 167 consecutive cases presenting with postmenopausal bleeding one year after menopause. Women having undergone hysterectomy and bilateral salpingo-oophorectomy, receiving radiotherapy or chemotherapy, suffered trauma to the genital tract, having coagulation disorder or on anticoagulant or hormone replacement therapy were excluded. Detailed history was obtained and a thorough clinical examination was conducted. Data were entered into hospital computer database (Medix) system. Mean +- SD were calculated for age, percentage was calculated for types of histopathological findings. Results: The commonest cause of PMB was atrophic endometritis and vaginitis 33 (21.2%). Overall incidence of various genital tract malignancies was 25 (16.0%). Conclusion: The overall incidence of genital tract malignancies in patients presenting with PMB is high (16.0%), therefore, it needs to be taken seriously and requires prompt and thorough investigations. (author)

Imaging of Hereditary Hemorrhagic Telangiectasia

International Nuclear Information System (INIS)

Carette, Marie-France; Nedelcu, Cosmina; Tassart, Marc; Grange, Jean-Didier; Wislez, Marie; Khalil, Antoine

2009-01-01

This pictorial review is based on our experience of the follow-up of 120 patients at our multidisciplinary center for hereditary hemorrhagic telangiectasia (HHT). Rendu-Osler-Weber disease or HHT is a multiorgan autosomal dominant disorder with high penetrance, characterized by epistaxis, mucocutaneous telangiectasis, and visceral arteriovenous malformations (AVMs). The research on gene mutations is fundamental and family screening by clinical examination, chest X-ray, research of pulmonary shunting, and abdominal color Doppler sonography is absolutely necessary. The angioarchitecture of pulmonary AVMs can be studied by unenhanced multidetector computed tomography; however, all other explorations of liver, digestive bowels, or brain require administration of contrast media. Magnetic resonance angiography is helpful for central nervous system screening, in particular for the spinal cord, but also for pulmonary, hepatic, and pelvic AVMs. Knowledge of the multiorgan involvement of HHT, mechanism of complications, and radiologic findings is fundamental for the correct management of these patients.

Bleeding during Pregnancy

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... in pregnancy? • What problems with the placenta can cause bleeding during pregnancy? • Can bleeding be a sign of preterm labor? • ... the hospital. What problems with the placenta can cause bleeding during pregnancy? Several problems with the placenta later in pregnancy ...

Intervention and Prevention of Hereditary Hemolytic Disorders in Two Ethnic Communities of Sundargarh District of Orissa, India: An Experience from KAP Studies

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Balgir RS

2010-10-01

Full Text Available Hereditary hemolytic disorders are important public health challenges in India. They cause a high degree of morbidity, mortality and fetal wastage in vulnerable communities. Tradition-bound-psychosocial influences are detrimental to the process of prevention. This study was designed to create awareness, motivate, and sensitize two major vulnerable tribal communities: Bhuyan and Kharia for hemoglobin and allied hemolytic disorders in addition to imparting prospective and retrospective genetic/marriage counseling. Bhuyan and Kharia tribal people in Orissa live in clusters practicing inter-village tribal endogamy and clan exogamy. For the present study, random sampling procedure for the selection of whole village was followed. Imparting of education, motivation and sensitization for carrier detection were carried out through IEC materials, holding interactive meetings and discussions at district, block and village levels. Both prospective and retrospective intervention and genetic/marriage counseling was done through the local PHC doctor. The pre- and post-intervention knowledge, attitude and practice (KAP studies were conducted. Tribal people were not knowing the signs and symptoms of sickle cell disease (2.1% and beta-thalassemia (1.0%, but after IEC, their knowledge was considerably improved (67.8%, 56.4%, respectively. Sickle cell patient needs treatment (37.6% like folic acid, blood transfusion, etc. Beta-thalassemia is disease causes bloodlessness and is a transfusion dependent (73.2%. All patients of thalassemia major or sickle cell disease have carrier parents and carriers do not suffer from any clinical ailments. After intervention, it was known that G-6-PD is an enzyme, which helps in glucose metabolism of red cells (76.4% and its hereditary deficiency causes hemolytic anemia, jaundice and black urination (73.8% in malaria cases when anti-malarials are administered. Methodical and prudent intervention and preventive strategies found

[Renal diseases related to MYH9 disorders].

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Galeano, Dario; Zanoli, Luca; L'Imperio, Vincenzo; Fatuzzo, Pasquale; Granata, Antonio

2017-04-01

Mutations in MYH9 gene encoding the nonmuscle myosin heavy chain IIA (NMMHC-IIA) are related to a number of rare autosomal-dominant disorders which has been known as May-Hegglin disease, Sebastian syndrome, Fechtner syndrome and Epstein syndrome. Their common clinical features are congenital macrothrombocytopaenia and polymorphonuclear inclusion bodies, in addition to a variable risk of developing proteinuria, chronic kidney disease progressing toward end stage, sensorineural deafness and presenile cataracts. The term MYH9 related disease (MYH9-RD) describes the variable expression of a single illness encompassing all previously mentioned hereditary disorders. Renal involvement in MYH9- RD has been observed in 30% of patients. Mutant MYH9 protein, expressed in podocytes, mesangial and tubular cells, plays a main role in foot process effacement and in development of nephropathy. Interestingly, the MYH9 gene is currently under investigation also for his possible contribution to many other non-hereditary glomerulopathies such as focal global glomerulosclerosis (hypertensive nephrosclerosis), idiopathic focal segmental glomerulosclerosis, C1q nephropathy and HIV-associated nephropathy. In this review we are aimed to describe renal diseases related to MYH9 disorders, from the hereditary disease to the acquired disorders, in which MYH9-gene acts as a "renal failure susceptibility gene". Copyright by Società Italiana di Nefrologia SIN, Rome, Italy.

Hereditary & familial colorectal cancer : Identification, characteristics, surveillance

NARCIS (Netherlands)

Kallenberg, F.G.J.

2017-01-01

Of all colorectal cancer (CRC) cases, 15-20% is related to familial or hereditary factors. Diagnosing familial and hereditary CRC syndromes is important for several reasons. One of these is that surveillance colonoscopies can reduce CRC incidence and mortality importantly. A complete family history

Definition of an organisational model for the prevention and reduction of health and social impacts of inherited bleeding disorders.

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Calizzani, Gabriele; Menichini, Ivana; Candura, Fabio; Lanzoni, Monica; Profili, Samantha; Tamburrini, Maria Rita; Fortino, Antonio; Vaglio, Stefania; Marano, Giuseppe; Facco, Giuseppina; Oliovecchio, Emily; Franchini, Massimo; Coppola, Antonio; Arcieri, Romano; Bon, Cinzia; Saia, Mario; Nuti, Sabina; Morfini, Massimo; Liumbruno, Giancarlo M; Di Minno, Giovanni; Grazzini, Giuliano

2014-04-01

Due to the increase in life expectancy, patients with haemophilia and other inherited bleeding disorders are experiencing age-related comorbidities that present new challenges. In order to meet current and emerging needs, a model for healthcare pathways was developed through a project funded by the Italian Ministry of Health. The project aimed to prevent or reduce the social-health burden of the disease and its complications. The National Blood Centre appointed a panel of experts comprising clinicians, patients, National and Regional Health Authority representatives. Following an analysis of the scientific and regulatory references, the panel drafted a technical proposal containing recommendations for Regional Health Authorities, which has been formally submitted to the Ministry of Health. Finally, a set of indicators to monitor haemophilia care provision has been defined. In the technical document, the panel of experts proposed the adoption of health policy recommendations summarised in areas, such as: multidisciplinary integrated approach for optimal healthcare provision; networking and protocols for emergency care; home therapy; registries/databases; replacement therapy supply and distribution; recruitment and training of experts in bleeding disorders. The recommendations became the content of proposal of agreement between the Government and the Regions. Monitoring and evaluation of haemophilia care through the set of established indicators was partially performed due to limited available data. The project provided recommendations for the clinical and organisational management of patient with haemophilia. A particular concern was given to those areas that play a critical role in the comorbidities and complications prevention. Recommendations are expected to harmonise healthcare care delivery across regional networks and building the foundation for the national haemophilia network.

Internal Bleeding

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... Fractures (Part II) Additional Content Medical News Internal Bleeding By Amy H. Kaji, MD, PhD, Associate Professor, ... Emergency First Aid Priorities Cardiac Arrest Choking Internal Bleeding Severed or Constricted Limbs or Digits Soft-Tissue ...

Brazilian guidelines for the diagnosis and treatment of hereditary angioedema.

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Giavina-Bianchi, Pedro; França, Alfeu T; Grumach, Anete S; Motta, Abílio A; Fernandes, Fátima R; Campos, Regis A; Valle, Solange O; Rosário, Nelson A; Sole, Dirceu

2011-01-01

Hereditary angioedema is an autosomal dominant disease characterized by edema attacks with multiple organ involvement. It is caused by a quantitative or functional deficiency of the C1 inhibitor, which is a member of the serine protease inhibitor family. Hereditary angioedema is unknown to many health professionals and is therefore an underdiagnosed disease. The causes of death from hereditary angioedema include laryngeal edema with asphyxia. The estimated mortality rate in patients in whom the disease goes undetected and who are therefore incorrectly treated is 25-40%. In addition to edema of the glottis, hereditary angioedema often results in edema of the gastrointestinal tract, which can be incapacitating. Patients with hereditary angioedema may undergo unnecessary surgical interventions because the digestive tract can be the primary or only organ system involved, thus mimicking acute surgical abdomen. It is estimated that patients with hereditary angioedema experience some degree of disability 20-100 days per year. The Experts in Clinical Immunology and Allergy of the "Associação Brasileira de Alergia e Imunopatologia -ASBAI" developed these guidelines for the diagnosis, therapy, and management of hereditary angioedema.

[Mutations of ACVRL1 gene in a pedigree with hereditary hemorrhagic telangiectasia].

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Luo, Jie-wei; Chen, Hui; Yang, Liu-qing; Zhu, Ai-lan; Wu, Yan-an; Li, Jian-wei

2008-06-01

To identify the activin A receptor type II-like 1 gene (ACVRL1) mutations in a Chinese family with hereditary hemorrhagic telangiectasia (HHT2). The exons 3, 7 and 8 of ACVRL1 gene of the proband and her five family members were amplified by polymerase chain reaction (PCR), and the PCR products were sequenced. The proband had obvious telangiectasis of gastric mucosa, and small arteriovenous fistula in the right kidney. All the patients in the HHT2 family had iterative epistaxis or bleeding in other sites, and had telangiectasis of nasal mucosa, tunica mucosa oris and finger tips. ACVRL1 gene analysis confirmed that there is frameshift mutation caused by deletion of G145 in exon 3 in the 4 patients, but the mutation is absent in 2 members without HHT2. The HHT2 family is caused by a 145delG mutation of ACVRL1 gene, resulting in frameshift and a new stop codon at codon 53.

Bleeding and starving: fasting and delayed refeeding after upper gastrointestinal bleeding.

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Fonseca, Jorge; Meira, Tânia; Nunes, Ana; Santos, Carla Adriana

2014-01-01

Early refeeding after nonvariceal upper gastrointestinal bleeding is safe and reduces hospital stay/costs. The aim of this study was obtaining objective data on refeeding after nonvariceal upper gastrointestinal bleeding. From 1 year span records of nonvariceal upper gastrointestinal bleeding patients that underwent urgent endoscopy: clinical features; rockall score; endoscopic data, including severity of lesions and therapy; feeding related records of seven days: liquid diet prescription, first liquid intake, soft/solid diet prescription, first soft/solid intake. From 133 patients (84 men) Rockall classification was possible in 126: 76 score ≥5, 50 score bleeding, eight rebled, two underwent surgery, 13 died. Ulcer was the major bleeding cause, 63 patients underwent endoscopic therapy. There was 142/532 possible refeeding records, no record 37% patients. Only 16% were fed during the first day and half were only fed on third day or later. Rockall upper gastrointestinal bleeding patients must be refed earlier, according to guidelines.

A case report of Gorlin–Goltz syndrome as a rare hereditary disorder

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Sirous, Mehri; Tayari, Nazila

2011-01-01

Gorlin–Goltz syndrome is an autosomal dominant and a rare hereditary disease. Diagnosis of this syndrome is based on major and minor criteria. We report a Gorlin–Goltz syndrome in a 25-year-old male who was presented with progressive pain of maxilla and mandible over 5 years. The pain was diffuse and compatible with expansile cyst in alveolar ridges on panoramic radiography. In physical examination, he had coarse face and prognathism. Computer tomography of face revealed two expansile maxillary and one mandibular cyst. Calcification of entire length in falx and tentorium were detected in bone window. PMID:22091315

A case report of Gorlin-Goltz syndrome as a rare hereditary disorder.

Science.gov (United States)

Sirous, Mehri; Tayari, Nazila

2011-06-01

Gorlin-Goltz syndrome is an autosomal dominant and a rare hereditary disease. Diagnosis of this syndrome is based on major and minor criteria. We report a Gorlin-Goltz syndrome in a 25-year-old male who was presented with progressive pain of maxilla and mandible over 5 years. The pain was diffuse and compatible with expansile cyst in alveolar ridges on panoramic radiography. In physical examination, he had coarse face and prognathism. Computer tomography of face revealed two expansile maxillary and one mandibular cyst. Calcification of entire length in falx and tentorium were detected in bone window.

A case report of Gorlin-Goltz syndrome as a rare hereditary disorder

Directory of Open Access Journals (Sweden)

Mehri Sirous

2011-01-01

Full Text Available Gorlin-Goltz syndrome is an autosomal dominant and a rare hereditary disease. Diagnosis of this syndrome is based on major and minor criteria. We report a Gorlin-Goltz syndrome in a 25-year-old male who was presented with progressive pain of maxilla and mandible over 5 years. The pain was diffuse and compatible with expansile cyst in alveolar ridges on panoramic radiography. In physical examination, he had coarse face and prognathism. Computer tomography of face revealed two expansile maxillary and one mandibular cyst. Calcification of entire length in falx and tentorium were detected in bone window.

Serial casting for neuromuscular flatfoot and vertical talus in an adolescent with hereditary spastic paraplegia.

Science.gov (United States)

Sweet, Laurene A; OʼNeill, Lindsey M; Dobbs, Matthew B

2014-01-01

The purpose of this report is to explore assessment and serial casting intervention for painful rigid flatfoot deformities with vertical talus in an adolescent girl with hereditary spastic paraplegia who was nonambulatory. The participant's right foot underwent 2 phases of casting with correction first toward hindfoot inversion and then dorsiflexion. Because of a vertical talus, her left foot required an intermediate casting toward plantar flexion, inversion, and forefoot adduction prior to casting toward dorsiflexion. The patient improved despite the underlying progressive neuromuscular disorder. Pain ameliorated and she returned to supported standing and transfers. Spasticity decreased bilaterally and the flexibility of her foot deformities improved to allow orthotic fabrication in subtalar neutral. Results were maintained at 12 and 16 months. Individualized multiphase serial casting requires further investigation with patients such as those with hereditary spastic paraplegia.

Genetics Home Reference: hereditary sensory neuropathy type IA

Science.gov (United States)

... sensory neuropathy type IA Hereditary sensory neuropathy type IA Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description Hereditary sensory neuropathy type IA is a condition characterized by nerve abnormalities in ...

Nonvariceal upper gastrointestinal bleeding

International Nuclear Information System (INIS)

Burke, Stephen J.; Weldon, Derik; Sun, Shiliang; Golzarian, Jafar

2007-01-01

Nonvariceal upper gastrointestinal bleeding (NUGB) remains a major medical problem even after advances in medical therapy with gastric acid suppression and cyclooxygenase (COX-2) inhibitors. Although the incidence of upper gastrointestinal bleeding presenting to the emergency room has slightly decreased, similar decreases in overall mortality and rebleeding rate have not been experienced over the last few decades. Many causes of upper gastrointestinal bleeding have been identified and will be reviewed. Endoscopic, radiographic and angiographic modalities continue to form the basis of the diagnosis of upper gastrointestinal bleeding with new research in the field of CT angiography to diagnose gastrointestinal bleeding. Endoscopic and angiographic treatment modalities will be highlighted, emphasizing a multi-modality treatment plan for upper gastrointestinal bleeding. (orig.)

Nonvariceal upper gastrointestinal bleeding

Energy Technology Data Exchange (ETDEWEB)

Burke, Stephen J.; Weldon, Derik; Sun, Shiliang [University of Iowa, Department of Radiology, Iowa, IA (United States); Golzarian, Jafar [University of Iowa, Department of Radiology, Iowa, IA (United States); University of Iowa, Department of Radiology, Carver College of Medicine, Iowa, IA (United States)

2007-07-15

Nonvariceal upper gastrointestinal bleeding (NUGB) remains a major medical problem even after advances in medical therapy with gastric acid suppression and cyclooxygenase (COX-2) inhibitors. Although the incidence of upper gastrointestinal bleeding presenting to the emergency room has slightly decreased, similar decreases in overall mortality and rebleeding rate have not been experienced over the last few decades. Many causes of upper gastrointestinal bleeding have been identified and will be reviewed. Endoscopic, radiographic and angiographic modalities continue to form the basis of the diagnosis of upper gastrointestinal bleeding with new research in the field of CT angiography to diagnose gastrointestinal bleeding. Endoscopic and angiographic treatment modalities will be highlighted, emphasizing a multi-modality treatment plan for upper gastrointestinal bleeding. (orig.)

Brazilian guidelines for the diagnosis and treatment of hereditary angioedema

Directory of Open Access Journals (Sweden)

Pedro Giavina-Bianchi

2011-01-01

Full Text Available Hereditary angioedema is an autosomal dominant disease characterized by edema attacks with multiple organ involvement. It is caused by a quantitative or functional deficiency of the C1 inhibitor, which is a member of the serine protease inhibitor family. Hereditary angioedema is unknown to many health professionals and is therefore an underdiagnosed disease. The causes of death from hereditary angioedema include laryngeal edema with asphyxia. The estimated mortality rate in patients in whom the disease goes undetected and who are therefore incorrectly treated is 25-40%. In addition to edema of the glottis, hereditary angioedema often results in edema of the gastrointestinal tract, which can be incapacitating. Patients with hereditary angioedema may undergo unnecessary surgical interventions because the digestive tract can be the primary or only organ system involved, thus mimicking acute surgical abdomen. It is estimated that patients with hereditary angioedema experience some degree of disability 20-100 days per year. The Experts in Clinical Immunology and Allergy of the "Associação Brasileira de Alergia e Imunopatologia -ASBAI" developed these guidelines for the diagnosis, therapy, and management of hereditary angioedema.

Hereditary spastic paraplegias: membrane traffic and the motor pathway.

Science.gov (United States)

Blackstone, Craig; O'Kane, Cahir J; Reid, Evan

2011-01-01

Voluntary movement is a fundamental way in which animals respond to, and interact with, their environment. In mammals, the main CNS pathway controlling voluntary movement is the corticospinal tract, which encompasses connections between the cerebral motor cortex and the spinal cord. Hereditary spastic paraplegias (HSPs) are a group of genetic disorders that lead to a length-dependent, distal axonopathy of fibres of the corticospinal tract, causing lower limb spasticity and weakness. Recent work aimed at elucidating the molecular cell biology underlying the HSPs has revealed the importance of basic cellular processes — especially membrane trafficking and organelle morphogenesis and distribution— in axonal maintenance and degeneration.

Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)

DEFF Research Database (Denmark)

Shovlin, C L; Guttmacher, A E; Buscarini, E

2000-01-01

Hereditary Hemorrhagic Telangiectasia (HHT) is easily recognized in individuals displaying the classical triad of epistaxis, telangiectasia, and a suitable family history, but the disease is more difficult to diagnosis in many patients. Serious consequences may result if visceral arteriovenous ma...... in this disorder. These criteria may be refined as molecular diagnostic tests become available in the next few years....... of the HHT Foundation International, Inc., we present consensus clinical diagnostic criteria. The four criteria (epistaxes, telangiectasia, visceral lesions and an appropriate family history) are carefully delineated. The HHT diagnosis is definite if three criteria are present. A diagnosis of HHT cannot...

EAMJ Oct Hereditary.indd

African Journals Online (AJOL)

HEREDITARY GINGIVAL FIBROMATOSIS: REPORT OF FAMILY CASE SERIES. E. G. Wagaiyu ... Senior Lecturer, Department of Periodontology/Community and Preventive Dentistry, ... fibrous connective tissue held in chronically inflamed.

Selective serotonin reuptake inhibitors and gastrointestinal bleeding: a case-control study.

Directory of Open Access Journals (Sweden)

Alfonso Carvajal

Full Text Available BACKGROUND: Selective serotonin reuptake inhibitors (SSRIs have been associated with upper gastrointestinal (GI bleeding. Given their worldwide use, even small risks account for a large number of cases. This study has been conducted with carefully collected information to further investigate the relationship between SSRIs and upper GI bleeding. METHODS: We conducted a case-control study in hospitals in Spain and in Italy. Cases were patients aged ≥18 years with a primary diagnosis of acute upper GI bleeding diagnosed by endoscopy; three controls were matched by sex, age, date of admission (within 3 months and hospital among patients who were admitted for elective surgery for non-painful disorders. Exposures to SSRIs, other antidepressants and other drugs were defined as any use of these drugs in the 7 days before the day on which upper gastrointestinal bleeding started (index day. RESULTS: 581 cases of upper GI bleeding and 1358 controls were considered eligible for the study; no differences in age or sex distribution were observed between cases and controls after matching. Overall, 4.0% of the cases and 3.3% of controls used an SSRI antidepressant in the week before the index day. No significant risk of upper GI bleeding was encountered for SSRI antidepressants (adjusted odds ratio, 1.06, 95% CI, 0.57-1.96 or for whichever other grouping of antidepressants. CONCLUSIONS: The results of this case-control study showed no significant increase in upper GI bleeding with SSRIs and provide good evidence that the magnitude of any increase in risk is not greater than 2.

Prosthodontic Rehabilitation of Hereditary Ectodermal Dysplasia in an 11-Year-Old Patient with Flexible Denture: A Case Report

Directory of Open Access Journals (Sweden)

Neha Jain

2012-01-01

Full Text Available Hereditary ectodermal dysplasia is a rare group of inherited disorders characterized by aplasia or dysplasia of two or more tissues of ectodermal origin such as hair, nails, teeth, and skin. The dental characteristics of this syndrome include anodontia or hypodontia of the primary and/or permanent teeth, hypoplastic conical teeth, and underdevelopment of the alveolar ridges. The options for a definitive treatment plan include fixed, removable or implant-supported prostheses, singly or in combination. This clinical report describes the prosthetic rehabilitation of an 11-year-old boy with hereditary ectodermal dysplasia. Maxillary flexible removable partial denture and mandibular conventional complete denture were fabricated to establish an acceptable masticatory function, speech, and esthetics for the patient.

[Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses].

Science.gov (United States)

Cammarata-Scalisi, Francisco; Cozar, Mónica; Grinberg, Daniel; Balcells, Susana; Asteggiano, Carla G; Martínez-Domenech, Gustavo; Bracho, Ana; Sánchez, Yanira; Stock, Frances; Delgado-Luengo, Wilmer; Zara-Chirinos, Carmen; Chacín, José Antonio

2015-04-01

Hereditary forms of multiple exostoses, now called EXT1/EXT2-CDG within Congenital Disorders of Glycosylation, are the most common benign bone tumors in humans and clinical description consists of the formation of several cartilage-capped bone tumors, usually benign and localized in the juxta-epiphyseal region of long bones, although wide body dissemination in severe cases is not uncommon. Onset of the disease is variable ranging from 2-3 years up to 13-15 years with an estimated incidence ranging from 1/18,000 to 1/50,000 cases in European countries. We present a double mutant alleles in the EXT1 gene not previously reported in a teenager and her family with hereditary multiple exostoses.

[Hereditary sensory and autonomic neuropathy type II A: early neurological and skeletal findings].

Science.gov (United States)

Esmer, C; Díaz Zambrano, S; Santos Díaz, M A; González Huerta, L M; Cuevas Covarrubias, S A; Bravo Oro, A

2014-04-01

The hereditary sensory and autonomic neuropathies are genetic disorders characterized by the loss of sensation including pain, tactile and temperature. Its clinical and molecular features vary widely; the symptoms may begin from birth or be noticed in the first or second decade, with different types of complications of trauma to the extremities such as ulcers, mutilations and acral amputations. They are classified into six groups from I to VI, determined by the abnormality in eleven genes leading to phenotypic variations in the age of onset and the presence or absence of dysautonomia signs. With the exception of type I, all are autosomal recessive. The type II of these neuropathies is characterized by insensitivity to pain, heat and proprioception. We describe three members of a Mexican family with WNK1 gene mutation that caused hereditary neuropathy IIA. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

Learning about Hereditary Hemochromatosis

Science.gov (United States)

Skip to main content Learning About Hereditary Hemochromatosis Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding Extramural Research ...

Inherited disorders of HDL metabolism and atherosclerosis

NARCIS (Netherlands)

Hovingh, G Kees; de Groot, E.P.; van der Steeg, Wim; Boekholdt, S Matthijs; Hutten, Barbara A; Kuivenhoven, J.A.; Kastelein, John J P

PURPOSE OF REVIEW: Genetic disorders of HDL metabolism are rare and, as a result, the assessment of atherosclerosis risk in individuals suffering from these disorders has been difficult. Ultrasound imaging of carotid arteries has provided a tool to assess the risk in hereditary hypo and

Inherited disorders of HDL metabolism and atherosclerosis

NARCIS (Netherlands)

Hovingh, G. Kees; de Groot, Eric; van der Steeg, Wim; Boekholdt, S. Matthijs; Hutten, Barbara A.; Kuivenhoven, Jan Albert; Kastelein, John J. P.

2005-01-01

Purpose of review Genetic disorders of HDL metabolism are rare and, as a result, the assessment of atherosclerosis risk in individuals suffering from these disorders has been difficult. Ultrasound imaging of carotid arteries has provided a tool to assess the risk in hereditary hypo and

Hereditary breast cancer

DEFF Research Database (Denmark)

Larsen, Martin J; Thomassen, Mads; Gerdes, Anne-Marie

2014-01-01

Pathogenic mutations in BRCA1 or BRCA2 are only detected in 25% of families with a strong history of breast cancer, though hereditary factors are expected to be involved in the remaining families with no recognized mutation. Molecular characterization is expected to provide new insight...... into the tumor biology to guide the search of new high-risk alleles and provide better classification of the growing number of BRCA1/2 variants of unknown significance (VUS). In this review, we provide an overview of hereditary breast cancer, its genetic background, and clinical implications, before focusing...... on the pathologically and molecular features associated with the disease. Recent transcriptome and genome profiling studies of tumor series from BRCA1/2 mutation carriers as well as familial non-BRCA1/2 will be discussed. Special attention is paid to its association with molecular breast cancer subtypes as well...

Prevalence of H63D, S65C, and C282Y hereditary hemochromatosis gene variants in Madeira Island (Portugal).

Science.gov (United States)

Spínola, Carla; Brehm, António; Spínola, Hélder

2011-01-01

Hereditary HFE Hemochromatosis is an inherited disorder of iron metabolism that results from mutations in the HFE gene. Almost all patients with hereditary hemochromatosis show a C282Y mutation in homozygosity or in compound heterozygosity with H63D. Also, the mutation S65C has been shown to be associated to a milder iron overload. Since allele and genotype frequencies of these three variants of the HFE gene vary between populations, the determination of their prevalence in Madeira Island will clarify the population susceptibility to hereditary hemochromatosis. One hundred and fifty-four samples from Madeira Island were genotyped for the three most common HFE gene mutations, H63D, C282Y, and S65C, by polymerase chain reaction followed by restriction fragment length polymorphism analysis. Results have shown a prevalence of 20.5%, 0.33%, and 1% for H63D, C282Y, and S65C, respectively. Accordingly to our estimates, both genotypes associated to hereditary hemochromatosis, C282Y homozygotes and C282/H63D compound heterozygotes, could be present in Madeira Island population in 1,648 individuals, which represents 0.65% of the total population.

Vaginal bleeding in pregnancy

Science.gov (United States)

Pregnancy - vaginal bleeding; Maternal blood loss - vaginal ... Up to 1 in 4 women have vaginal bleeding at some time during their pregnancy. Bleeding is more common in the first 3 months (first trimester), especially with twins.

A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR)

NARCIS (Netherlands)

Hantke, Janina; Chandler, David; King, Rosalind; Wanders, Ronald J. A.; Angelicheva, Dora; Tournev, Ivailo; McNamara, Elyshia; Kwa, Marcel; Guergueltcheva, Velina; Kaneva, Radka; Baas, Frank; Kalaydjieva, Luba

2009-01-01

Hereditary Motor and Sensory Neuropathy -- Russe (HMSNR) is a severe autosomal recessive disorder, identified in the Gypsy population. Our previous studies mapped the gene to 10q22-q23 and refined the gene region to approximately 70 kb. Here we report the comprehensive sequencing analysis and fine

Upper gastrointestinal bleeding.

Science.gov (United States)

Feinman, Marcie; Haut, Elliott R

2014-02-01

Upper gastrointestinal (GI) bleeding remains a commonly encountered diagnosis for acute care surgeons. Initial stabilization and resuscitation of patients is imperative. Stable patients can have initiation of medical therapy and localization of the bleeding, whereas persistently unstable patients require emergent endoscopic or operative intervention. Minimally invasive techniques have surpassed surgery as the treatment of choice for most upper GI bleeding. Copyright © 2014 Elsevier Inc. All rights reserved.

An evaluation of the severity and progression of epistaxis in hereditary hemorrhagic telangiectasia 1 versus hereditary hemorrhagic telangiectasia 2.

Science.gov (United States)

Hunter, Benjamin N; Timmins, Benjamin H; McDonald, Jamie; Whitehead, Kevin J; Ward, P Daniel; Wilson, Kevin F

2016-04-01

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia whose hallmark symptom is spontaneous recurrent epistaxis. Two major genetic subtypes of this syndrome are HHT1 and HHT2. Severity of epistaxis ranges from occasional low-volume bleeding to frequent large-volume hemorrhage. This study evaluated the severity and progression of epistaxis in HHT1 versus HHT2. Retrospective cohort study. A retrospective chart review was performed for 183 genotyped HHT patients seen at our center from 2010 to 2013. Data collected included epistaxis severity score (ESS), age of epistaxis onset, number and type of treatments, age at which treatments were sought, complete blood count values, ferritin, number of telangiectases, blood transfusions, iron therapy history, and patient demographics. 115 subjects with HHT2 were compared to 68 with HHT1. Subjects with HHT2 had a higher ESS compared to HHT1 (P = .043) and a later age of onset of epistaxis (P = .005). HHT2 subjects were more likely to use oral iron (P = .032) and were more likely to seek interventions to control their epistaxis (P = .029). HHT2 is associated with more severe epistaxis and a subsequent higher rate of interventions, requiring more aggressive therapy as compared to HHT1. 4. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

Minor Bleeds Alert for Subsequent Major Bleeding in Patients Using Vitamin K Antagonists.

OpenAIRE

Veeger , Nic J.G.M.; Piersma-Wichers , Margriet; Meijer , Karina; Hillege , Hans L.

2011-01-01

Abstract Vitamin K antagonists (VKA) have shown to be effective in primary and secondary prevention of thromboembolism, but the associated risk of bleeding is an important limitation. The majority of the bleeds are clinically mild. In this study, we assessed whether these minor bleeds are associated with major bleeding, when controlling for other important risk indicators, including the achieved quality of anticoagulation. For this, 5898 patients of a specialised anticoagulation cl...

Pancreatic cancer risk in hereditary pancreatitis

Directory of Open Access Journals (Sweden)

Frank Ulrich Weiss

2014-02-01

Full Text Available Inflammation is part of the body’s immune response in order to remove harmful stimuli – like pathogens, irritants or damaged cells - and start the healing process. Recurrent or chronic inflammation on the other side seems a predisposing factor for carcinogenesis and has been found associated with cancer development. In chronic pancreatitis mutations of the cationic trypsinogen (PRSS1 gene have been identified as risk factors of the disease. Hereditary pancreatitis is a rare cause of chronic pancreatic inflammation with an early onset, mostly during childhood. Hereditary pancreatitis often starts with recurrent episodes of acute pancreatitis and the clinical phenotype is not very much different from other etiologies of the disease. The long-lasting inflammation however generates a tumor promoting environment and represents a major risk factor for tumor development This review will reflect our knowledge concerning the specific risk of hereditary pancreatitis patients to develop pancreatic cancer.

Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.

Science.gov (United States)

Chance, Phillip F

2006-01-01

Hereditary neuropathy with liability to pressure palsies (HNPP; also called tomaculous neuropathy) is an autosomal-dominant disorder that produces a painless episodic, recurrent, focal demyelinating neuropathy. HNPP generally develops during adolescence, and may cause attacks of numbness, muscular weakness, and atrophy. Peroneal palsies, carpal tunnel syndrome, and other entrapment neuropathies may be frequent manifestations of HNPP. Motor and sensory nerve conduction velocities may be reduced in clinically affected patients, as well as in asymptomatic gene carriers. The histopathological changes observed in peripheral nerves of HNPP patients include segmental demyelination and tomaculous or "sausage-like" formations. Mild overlap of clinical features with Charcot-Marie-Tooth (CMT) disease type 1 (CMT1) may lead patients with HNPP to be misdiagnosed as having CMT1. HNPP and CMT1 are both demyelinating neuropathies, however, their clinical, pathological, and electrophysiological features are quite distinct. HNPP is most frequently associated with a 1.4-Mb pair deletion on chromosome 17p12. A duplication of the identical region leads to CMT1A. Both HNPP and CMT1A result from a dosage effect of the PMP22 gene, which is contained within the deleted/duplicated region. This is reflected in reduced mRNA and protein levels in sural nerve biopsy samples from HNPP patients. Treatment for HNPP consists of preventative and symptom-easing measures. Hereditary neuralgic amyotrophy (HNA; also called familial brachial plexus neuropathy) is an autosomal-dominant disorder causing episodes of paralysis and muscle weakness initiated by severe pain. Individuals with HNA may suffer repeated episodes of intense pain, paralysis, and sensory disturbances in an affected limb. The onset of HNA is at birth or later in childhood with prognosis for recovery usually favorable; however, persons with HNA may have permanent residual neurological dysfunction following attack(s). Episodes are often

Comparison of different platelet count thresholds to guide administration of prophylactic platelet transfusion for preventing bleeding in people with haematological disorders after myelosuppressive chemotherapy or stem cell transplantation

Science.gov (United States)

Estcourt, Lise J; Stanworth, Simon J; Doree, Carolyn; Hopewell, Sally; Trivella, Marialena; Murphy, Michael F

2015-01-01

Background Platelet transfusions are used in modern clinical practice to prevent and treat bleeding in people who are thrombocytopenic due to bone marrow failure. Although considerable advances have been made in platelet transfusion therapy in the last 40 years, some areas continue to provoke debate, especially concerning the use of prophylactic platelet transfusions for the prevention of thrombocytopenic bleeding. This is an update of a Cochrane review first published in 2004, and previously updated in 2012 that addressed four separate questions: prophylactic versus therapeutic-only platelet transfusion policy; prophylactic platelet transfusion threshold; prophylactic platelet transfusion dose; and platelet transfusions compared to alternative treatments. This review has now been split into four smaller reviews looking at these questions individually; this review compares prophylactic platelet transfusion thresholds. Objectives To determine whether different platelet transfusion thresholds for administration of prophylactic platelet transfusions (platelet transfusions given to prevent bleeding) affect the efficacy and safety of prophylactic platelet transfusions in preventing bleeding in people with haematological disorders undergoing myelosuppressive chemotherapy or haematopoietic stem cell transplantation (HSCT). Search methods We searched for randomised controlled trials (RCTs) in the Cochrane Central Register of Controlled Trials (CENTRAL) (Cochrane Library 2015, Issue 6, 23 July 2015), MEDLINE (from 1946), Embase (from 1974), CINAHL (from 1937), the Transfusion Evidence Library (from 1950), and ongoing trial databases to 23 July 2015. Selection criteria We included RCTs involving transfusions of platelet concentrates, prepared either from individual units of whole blood or by apheresis, and given to prevent bleeding in people with haematological disorders (receiving myelosuppressive chemotherapy or undergoing HSCT) that compared different thresholds for

Comparison of different platelet count thresholds to guide administration of prophylactic platelet transfusion for preventing bleeding in people with haematological disorders after myelosuppressive chemotherapy or stem cell transplantation.

Science.gov (United States)

Estcourt, Lise J; Stanworth, Simon J; Doree, Carolyn; Hopewell, Sally; Trivella, Marialena; Murphy, Michael F

2015-11-18

Platelet transfusions are used in modern clinical practice to prevent and treat bleeding in people who are thrombocytopenic due to bone marrow failure. Although considerable advances have been made in platelet transfusion therapy in the last 40 years, some areas continue to provoke debate, especially concerning the use of prophylactic platelet transfusions for the prevention of thrombocytopenic bleeding.This is an update of a Cochrane review first published in 2004, and previously updated in 2012 that addressed four separate questions: prophylactic versus therapeutic-only platelet transfusion policy; prophylactic platelet transfusion threshold; prophylactic platelet transfusion dose; and platelet transfusions compared to alternative treatments. This review has now been split into four smaller reviews looking at these questions individually; this review compares prophylactic platelet transfusion thresholds. To determine whether different platelet transfusion thresholds for administration of prophylactic platelet transfusions (platelet transfusions given to prevent bleeding) affect the efficacy and safety of prophylactic platelet transfusions in preventing bleeding in people with haematological disorders undergoing myelosuppressive chemotherapy or haematopoietic stem cell transplantation (HSCT). We searched for randomised controlled trials (RCTs) in the Cochrane Central Register of Controlled Trials (CENTRAL) (Cochrane Library 2015, Issue 6, 23 July 2015), MEDLINE (from 1946), Embase (from 1974), CINAHL (from 1937), the Transfusion Evidence Library (from 1950), and ongoing trial databases to 23 July 2015. We included RCTs involving transfusions of platelet concentrates, prepared either from individual units of whole blood or by apheresis, and given to prevent bleeding in people with haematological disorders (receiving myelosuppressive chemotherapy or undergoing HSCT) that compared different thresholds for administration of prophylactic platelet transfusions (low

The International Bleeding Risk Score

DEFF Research Database (Denmark)

Laursen, Stig Borbjerg; Laine, L.; Dalton, H.

2017-01-01

The International Bleeding Risk Score: A New Risk Score that can Accurately Predict Mortality in Patients with Upper GI-Bleeding.......The International Bleeding Risk Score: A New Risk Score that can Accurately Predict Mortality in Patients with Upper GI-Bleeding....

Revisited diagnostics of hereditary epidermolysis bullosa

Directory of Open Access Journals (Sweden)

V. I. Albanova

2014-01-01

Full Text Available Hereditary epidermolysis bullosa is a big group of hereditary diseases with the main manifestations in the form of blisters on the skin and mucous coat after slight mechanical injuries. It is not always possible to diagnose this disease based on the clinical picture. The article discusses current laboratory diagnostics methods for hereditary epidermolysis bullosa including immunofluorescence antigen mapping (IFM, transmission electron microscopy (TEM and genetic analysis (molecular or DNA diagnostics as well as their advantages and disadvantages. TEM determines the micro splitting level and nature of ultrafine changes in the area of the dermoepidermal junction; at the same time, such tests need special expensive equipment. Substantial experience is also needed to analyze the resulting submicroscopic images. IFM determines whether expression of the affected protein related to the disease development is reduced or absent; however, invalid (false positive or false negative results can be obtained in patients with the reduced expression of the affected protein. Genetic analysis plays a key role for prenatal diagnostics. Therefore, to make an exact diagnosis of hereditary epidermolysis bullosa, it is expedient to apply IFM, TEM and genetic analysis. The need to set an exact diagnosis of the disease is related to the fact that the promising treatment methods being currently developed are aimed at treating patients with certain forms of the disease.

Abnormal neuroendocrine response to clomipramine in hereditary affective psychosis.

Science.gov (United States)

Cordes, Joachim; Larisch, Rolf; Henning, Uwe; Thünker, Johanna; Werner, Christian; Orozco, Guillermo; Mayoral, Fermín; Rivas, Fabio; Auburger, Georg; Tosch, Marco; Rietschel, Marcella; Gaebel, Wolfgang; Müller, Hans-Wilhelm; Klimke, Ansgar

2009-01-01

Blunting of prolactin response after serotonergic stimulation during a major depressive episode has been described by several investigators. In this study, the neuroendocrine responses to clomipramine were assessed in remitted patients suffering from hereditary depression. Twenty remitted patients from 11 large families with multigenerational, multiple cases of major affective disorder (bipolar disorder n=15, recurrent depression n=5, according DSM-IV) and 12 healthy relatives were investigated. After intravenous application of 12.5 mg of the serotonin re-uptake inhibitor clomipramine, serum prolactin and cortisol levels were analysed. Patients and comparison group did not differ significantly with respect to age, baseline prolactin and cortisol concentrations. A gender effect was found in an exploratory analysis for prolactin but not for cortisol and therefore the data for prolactin were analysed separately. After clomipramine infusion, the increase of cortisol was significantly lower in patients than in the comparison group (P=.046). For prolactin, this effect could be found in the male (P=.012) as well as in the female (P=.007) subsample. These results suggest that blunted prolactin and cortisol responses to serotonergic stimulation are characteristic for remitted depressive patients with previous episodes of major affective disorders. (c) 2009 Wiley-Liss, Inc.

Dyspnea with anemia turned out to be a case of hereditary hemorrhagic telangiectasia

Directory of Open Access Journals (Sweden)

Amitabha Sengupta

2013-01-01

Full Text Available Hereditary hemorrhagic telangiectasia (HHT is a rare autosomal dominant inherited disorder of the vascular system. It can be asymptomatic but when symptomatic most common presentation being epistaxis. It can involve any organs of the body like lungs, skin, liver brain, GI mucosa etc. We are reporting a case of HHT presented to us with dyspnea and severe anemia. He had arteriovenous malformations of different visceral organs and telangiectasia of skin along with presence of similar history in first-degree relatives.

Evidence-based management of epistaxis in hereditary haemorrhagic telangiectasia.

Science.gov (United States)

Syed, I; Sunkaraneni, V S

2015-05-01

There are currently no guidelines in the UK for the specific management of hereditary haemorrhagic telangiectasia related epistaxis. The authors aimed to review the literature and provide an algorithm for the management of hereditary haemorrhagic telangiectasia related epistaxis. The Medline and Embase databases were interrogated on 15 November 2013 using the search items 'hereditary haemorrhagic telangiectasia' (title), 'epistaxis' (title) and 'treatment' (title and abstract), and limiting the search to articles published in English. A total of 46 publications were identified, comprising 1 systematic review, 2 randomised, controlled trials, 27 case series, 9 case reports, 4 questionnaire studies and 3 in vitro studies. There is a lack of high-level evidence for the use of many of the available treatments for the specific management of epistaxis in hereditary haemorrhagic telangiectasia. Current management should be based on a multidisciplinary team approach involving both a hereditary haemorrhagic telangiectasia physician and an ENT surgeon, especially when systemic therapy is being considered. The suggested treatment algorithm considers that the severity of epistaxis merits intervention at different levels of the treatment ladder. The patient should be assessed using a reproducible validated assessment tool, for example an epistaxis severity score, to guide treatment. More research is required, particularly in the investigation of topical agents targeting the development and fragility of telangiectasiae in hereditary haemorrhagic telangiectasia.

Mental disorders and consanguinity comparison of first-cousin marriages and matched unrelated marriages

Energy Technology Data Exchange (ETDEWEB)

Helgason, T

1979-01-01

Mental disorders have long been known to run in families. How and why has still not been agreed upon. However, most psychiatrists probably agree that there is no unitary cause, either environmental or hereditary, for the common mental disorders. In each case a number of etiological factors are at work to a variable extent, social, psychological, biochemical and pathophysiological. These include hereditary mechanism, such as predisposition which under certain stress (Rosenthal 1970) can result in a disease. The present paper is intended to give some additional data for the further discussion of the issues involved. It is a part of a larger study of first-cousin marriages and their children. The purpose of this larger study is to investigate various genetic markers among these families as well as their fertility, morbidity and mortality. Here the occurrence of mental disorders in these families will be analyzed and compared with that in the general population. If recessive hereditary traits are involved in the etiology of mental disorders an increased frequence should be expected among children of such families.

Risk Factors for Post-TAVI Bleeding According to the VARC-2 Bleeding Definition and Effect of the Bleeding on Short-Term Mortality: A Meta-analysis.

Science.gov (United States)

Wang, Jiayang; Yu, Wenyuan; Jin, Qi; Li, Yaqiong; Liu, Nan; Hou, Xiaotong; Yu, Yang

2017-04-01

In this study we investigated the effect of post-transcatheter aortic valve implantation (TAVI) bleeding (per Valve Academic Research Consortium-2 [VARC-2] bleeding criteria) on 30-day postoperative mortality and examined the correlation between pre- or intraoperative variables and bleeding. Multiple electronic literature databases were searched using predefined criteria, with bleeding defined per Valve Academic Research Consortium-2 criteria. A total of 10 eligible articles with 3602 patients were included in the meta-analysis. The meta-analysis revealed that post-TAVI bleeding was associated with a 323% increase in 30-day postoperative mortality (odds risk [OR]; 4.23, 95% confidence interval [CI], 2.80-6.40; P logistic regression analysis revealed that atrial fibrillation (AF) was independently correlated with TAVI-associated bleeding (OR, 2.63; 95% CI, 1.33-5.21; P = 0.005). Meta-regression showed that potential modifiers like the Society of Thoracic Surgeons (STS) score, mortality, the logistic European System for Cardiac Operative Risk Evaluation (EuroSCORE), aortic valve area, mean pressure gradient, left ventricular ejection fraction, preoperative hemoglobin and platelet levels, and study design had no significant effects on the results of the meta-analysis. Post-TAVI bleeding, in particular, major bleeding/life-threatening bleeding, increased 30-day postoperative mortality. Transapical access was a significant bleeding risk factor. Preexisting AF independently correlated with TAVI-associated bleeding, likely because of AF-related anticoagulation. Recognition of the importance and determinants of post-TAVI bleeding should lead to strategies to improve outcomes. Copyright © 2016 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

Hereditary neuropathy with liability to pressure palsy: a brief review with a case report.

Science.gov (United States)

Rana, Abdul Qayyum; Masroor, Mohamed Sufian

2012-03-01

Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) is an autosomal dominant disorder and is usually characterized by episodes of recurrent and painless focal motor and sensory peripheral mononeuropathy. This condition is usually localized around areas of entrapment (predominantly the wrists, knees, elbows, and shoulders). The genetic locus of the disease is chromosome 17p12. A deletion of the PMP22 gene results in the lack of peripheral myelin protein, a key component to the myelin sheet of peripheral nerves. However, this disease may be completely asymptomatic until an event, such as a minor trauma, triggers these episodes, as seen in our presented case report. The diagnosis of HNPP can be somewhat challenging, as other diseases, such as Charcot-Marie-Tooth disease type 1A (CMT) and Hereditary Neuralgic Amyotrophy (HNA) must be included in the differential diagnosis due to their overlapping clinical features. There are currently no treatments to cure the disease, but therapies seek to alleviate the symptoms and recurring episodes.

Mania associated with complicated hereditary spastic paraparesis

Directory of Open Access Journals (Sweden)

Raghavendra B Nayak

2011-01-01

Full Text Available Hereditary spastic paraparesis (HSP is an inherited group of neurological disorders with progressive lower limb spasticity. HSP can be clinically grouped into pure and complicated forms. Pure HSP is one without any associated neurological/psychiatric comorbidity. Depression is the most common psychiatric comorbidity. Presence of mania or bipolar affective illness with HSP is a rare phenomenon. We report a case of a 17-year-old boy who presented with classical features of HSP with complaints of excessive happiness, irritability, increased self-esteem and decreased sleep since 1 month. The patient also had complex partial seizure ever since he had features of HSP. The patient′s father and younger sister suffer from pure HSP. The patient was diagnosed to have first episode mania with complicated HSP. The details of treatment and possible neurobiology are discussed in this case report.

Mania associated with complicated hereditary spastic paraparesis.

Science.gov (United States)

Nayak, Raghavendra B; Bhogale, Govind S; Patil, Nanasaheb M; Pandurangi, Aditya A

2011-07-01

Hereditary spastic paraparesis (HSP) is an inherited group of neurological disorders with progressive lower limb spasticity. HSP can be clinically grouped into pure and complicated forms. Pure HSP is one without any associated neurological/psychiatric comorbidity. Depression is the most common psychiatric comorbidity. Presence of mania or bipolar affective illness with HSP is a rare phenomenon. We report a case of a 17-year-old boy who presented with classical features of HSP with complaints of excessive happiness, irritability, increased self-esteem and decreased sleep since 1 month. The patient also had complex partial seizure ever since he had features of HSP. The patient's father and younger sister suffer from pure HSP. The patient was diagnosed to have first episode mania with complicated HSP. The details of treatment and possible neurobiology are discussed in this case report.

Hereditary hemorrhagic telangiectasia: progress of diagnostic imaging and vascular therapeutic embolization

International Nuclear Information System (INIS)

Lu Chuan; Liu Zuoqin

2008-01-01

Hereditary haemorrhagic telangiectasia (HHT) is a genetic autosomal-dominant disorder characterized by the presence of epistaxis, vascular telangiectasis in mucosal and cutaneous tissues, with visceral lesions and family history. However, many specialists or radiologists are still in lack of appreciation concerning the full range of consequences in diagnosis and their family relationship resulting the poor recognition of the disease. Understanding the diagnostic imaging and therapeutic measure for HHT will be critical, because of the continuous growth and risk existance of these arteriovenous malformations arousing early diagnosis, proper treatment, adequate follow-up and screening of the family. (authors)

Non-motor Symptoms In Patients With Hereditary Spastic Paraplegia Caused By Spg4 Mutations.

OpenAIRE

Servelhere, K R; Faber, I; Saute, J A M; Moscovich, M; D'Abreu, A; Jardim, L B; Teive, H A G; Lopes-Cendes, I; Franca, M C

2016-01-01

Non-motor manifestations are frequently overlooked in degenerative disorders and little is known about their frequency and clinical relevance in SPG4 hereditary spastic paraplegia (SPG4-HSP). Thirty patients with SPG4-HSP and 30 healthy controls answered the Modified Fatigue Impact Scale, Epworth Sleepiness Scale, Brief Pain Inventory and Beck Depression Inventory. Student's t test was used to compare groups and linear regression was used to assess correlations. Patients had higher fatigue sc...

Prevalence of alpha-1 antitrypsin deficiency and hereditary hemochromatosis gene mutations in Algarve, Portugal

OpenAIRE

Barreto da Silva, Marta; Gaio, Vânia; Fernandes, Aida; Mendonça, Francisco; Horta Correia, Filomena; Beleza, Álvaro; Gil, Ana Paula; Bourbon, Mafalda; Vicente, A.M.; Dias, Carlos Matias

2012-01-01

Alpha-1 antitrypsin (AAT) deficiency and hereditary hemochromatosis (HH) are two of the most fatal genetic disorders in adult life, affecting million individuals worldwide. They are often under-diagnosed conditions and diagnosis is only made when the patient is already in the advanced stages of damage. AAT deficiency results from mutations in one highly pleiomorphic gene located on chromosome 14, SERPINA 1, being Z and S mutations the most relevant clinically. These mutations will lead to an ...

Bleeding esophageal varices

Science.gov (United States)

... this page: //medlineplus.gov/ency/article/000268.htm Bleeding esophageal varices To use the sharing features on ... veins in the esophagus to balloon outward. Heavy bleeding can occur if the veins break open. Any ...

Interdisciplinary management for restoration of function and esthetics in a patient with hereditary amelogenesis imperfecta

Directory of Open Access Journals (Sweden)

Sushma Dhiman

2015-01-01

Full Text Available Amelogenesis imperfecta (AI is a type of the hereditary disorder which is expressed as a group of conditions causing developmental alterations in the structure of enamel. It is associated with a reduction of oral health-related quality-of-life, has an impact on psychological well-being, and leads to various physiological problems. Children or adults with AI express varying degree of malocclusions either in the form of crowding, impacted teeth, spacing, retained teeth, reduced vertical height due to abnormal tooth structure or undue tooth loss. Orthodontic treatment should precede esthetic rehabilitation. Proper diagnosis of the case is quintessential to provide durable functional and esthetic result to these patients, improving the quality of their lives. We present a case of interdisciplinary management for restoring function and esthetics in a patient with hereditary AI of the hypoplastic type accompanied with tooth impaction and some other dental anomalies.

Profile of genetic disorders prevalent in northeast region of Cairo ...

African Journals Online (AJOL)

Rabah M. Shawky

2012-02-04

Feb 4, 2012 ... syndromes, multiple genetic disorders in the same individual or same family and homozygosity ...... array of hereditary eye disorders has been identified. These in- ..... of ED, decreased sweating was present in 92%, dry skin in.

Recurrent Bleeding Within 24 Hours After Uterine Artery Embolization for Severe Postpartum Hemorrhage: Are There Predictive Factors?

International Nuclear Information System (INIS)

Bros, Sébastien; Chabrot, Pascal; Kastler, Adrian; Ouchchane, Lemlih; Cassagnes, Lucie; Gallot, Denis; Boyer, Louis

2012-01-01

Purpose: To retrospectively identify predictive factors of recurrent bleeding within 24 h after uterine artery embolization (UAE) for postpartum hemorrhage (PPH). Materials and Methods: A total of 194 patients underwent UAE for PPH between August 1999 and April 2009 at our institution. Twelve patients experienced recurrent bleeding within the next 24 h; a second attempt at UAE was thus necessary, which was successful in 10 cases. In two cases, hemostatic hysterectomy was performed. Epidemiological, gynecological-obstetrical, anatomic, and biological data were analyzed. Results: Complete data were available for 148 of the 194 (76%) included patients. Sixty-four (43%) were primiparous, 18 (12.2%) had a placenta accreta, 21 (14%) had a coagulopathy, and 28 (18.9%) had an anatomic variant of the uterine arterial vasculature. Mean age and pregnancy term were similar in both recurring and nonrecurrent bleeding groups. After multivariate analysis, three criteria emerged as risk factors of recurrent bleeding: primiparity (10 patients, 83%; odds ratio [OR] = 18.84; P = 0.014), coagulation disorders (6 patients, 50%; OR = 12.08; P = 0.006), and anatomic variant of the uterine arterial vasculature (28 patients; OR = 9.83; P = 0.003). Conclusions: earch for uterine collaterals must be performed before UAE for PPH. Primiparity and coagulation disorders increase the risk of recurrent bleeding after UAE for PPH.

Organization and Running of the First Comprehensive Hereditary Cancer Clinic in India

Directory of Open Access Journals (Sweden)

Rajkumar T

2005-11-01

Full Text Available Abstract Hereditary cancers are thought to account for around 5% of cancers, particularly breast/ovarian and colorectal cancers. In India there is a paucity of data on hereditary cancers and the mutations in some of the common genes linked to hereditary cancers, such as BRCA1, BRCA2, hMSH2 and hMLH1. The country's first comprehensive hereditary cancer clinic was established in February 2002. The article describes the organization and running of the Clinic. It also discusses some of the social issues relevant to the given population in running the Hereditary Cancer Clinic.

GI bleeding - slideshow

Science.gov (United States)

... page: //medlineplus.gov/ency/presentations/100162.htm GI bleeding - series—Normal anatomy To use the sharing features ... M. Editorial team. Related MedlinePlus Health Topics Gastrointestinal Bleeding A.D.A.M., Inc. is accredited by ...

Scintigraphic evaluation of gastrointestinal bleeding

International Nuclear Information System (INIS)

Park, Yong Tai; Lee, Choon Keun; Lee, Sun Wha; Choi, Woo Suk; Yoon, Yup; Lim, Jae Hoon

1988-01-01

Gastrointestinal bleeding remains a major diagnostic problem. Although advances have been made in the medical and surgical methods of managing gastrointestinal bleeding, the commonly employed techniques of barium radiography, endoscopy, and angiography may not successfully localize the site and define the cause of gastrointestinal bleeding. Two widely available technetium-99m-labeled radiopharmaceuticals, sulfur colloid and red blood cells are currently used in the evaluation of patients who are bleeding from the gastrointestinal tract. Surgically confirmed 19 patients with use of 99m Tc-sulfur colloid (7 cases) and 99m Tc-RBC (12 cases) were retrospectively evaluated. The overall sensitivity of scintigraphy in detection of bleeding and localization of bleeding site was 68% and 84%, respectively. The authors conclude that bleeding scintigraphy is a safe, sensitive, and non-invasive method as an effective screening test before performing angiography or surgery.

Abnormal uterine bleeding unrelated to structural uterine abnormalities: management in the perimenopausal period.

Science.gov (United States)

Sabbioni, Lorenzo; Zanetti, Isabella; Orlandini, Cinzia; Petraglia, Felice; Luisi, Stefano

2017-02-01

Abnormal uterine bleeding (AUB) is one of the commonest health problems encountered by women and a frequent phenomenon during menopausal transition. The clinical management of AUB must follow a standardized classification system to obtain the better diagnostic pathway and the optimal therapy. The PALM-COEIN classification system has been approved by the International Federation of Gynecology and Obstetrics (FIGO); it recognizes structural causes of AUB, which can be measured visually with imaging techniques or histopathology, and non-structural entities such as coagulopathies, ovulatory dysfunctions, endometrial and iatrogenic causes and disorders not yet classified. In this review we aim to evaluate the management of nonstructural causes of AUB during the menopausal transition, when commonly women experience changes in menstrual bleeding patterns and unexpected bleedings which affect their quality of life.

Clinical utility of new bleeding criteria: a prospective study of evaluation for the Bleeding Academic Research Consortium definition of bleeding in patients undergoing percutaneous coronary intervention.

Science.gov (United States)

Choi, Jae-Hyuk; Seo, Jeong-Min; Lee, Dong Hyun; Park, Kyungil; Kim, Young-Dae

2015-04-01

The aim of this study was to evaluate the clinical utility of the new bleeding criteria, proposed by the Bleeding Academic Research Consortium (BARC), compared with the old criteria for determining the action of physicians in contact with bleeding events, after percutaneous coronary intervention (PCI). The BARC criteria were independently associated with an increased risk of 1-year mortality after PCI, and provided a predictive value, in regard to 1-year mortality. The standardized bleeding definitions will be expected to help the physician to correctly analyze the bleeding events, to select an optimal treatment, and to objectively compare the results of multiple trials and registries. All the patients undergoing PCI from June to September 2012 were prospectively enrolled. Patients who experienced a bleeding event were further classified, based on three different bleeding severity criteria: BARC, Thrombolysis In Myocardial Infarction (TIMI), and Global Use of Strategies To Open coronary arteries (GUSTO). The primary outcome was the occurrence of bleeding events requiring interruption of antiplatelet therapy (IAT) by physicians. A total of 376 consecutive patients were included in this study. Total bleeding events occurred in 46 patients (12.2%). BARC type ≥2 bleeding occurred in 30 patients (8.0%); however, TIMI major or minor bleeding, and GUSTO moderate or severe bleeding occurred in 6 (1.6%) and 11 patients (2.9%), respectively. Of the 46 patients, 28 (60.9% of patients) required IAT. On receiver-operating characteristic curve analysis, bleeding defined BARC type ≥2 effectively predicted IAT, with a sensitivity of 89.3%, and a specificity of 98.5% (pdefinition may be a more useful tool for the detection of bleeding with clinical relevance, for patients undergoing PCI. Copyright © 2014 Japanese College of Cardiology. Published by Elsevier Ltd. All rights reserved.

Vaginal or uterine bleeding - overview

Science.gov (United States)

... and other menstrual conditions; Abnormal menstrual periods; Abnormal vaginal bleeding ... There are many causes of abnormal vaginal bleeding. HORMONES ... Doctors call the problem abnormal uterine bleeding (AUB) . AUB ...

Therapeutic Strategies for Hereditary Kidney Cancer.

Science.gov (United States)

Sidana, Abhinav; Srinivasan, Ramaprasad

2016-08-01

The study of hereditary forms of kidney cancer has vastly increased our understanding of metabolic and genetic pathways involved in the development of both inherited and sporadic kidney cancers. The recognition that diverse molecular events drive different forms of kidney cancers has led to the preclinical and clinical development of specific pathway-directed strategies tailored to treat distinct subgroups of kidney cancer. Here, we describe the molecular mechanisms underlying the pathogenesis of several different types of hereditary renal cancers, review their clinical characteristics, and summarize the treatment strategies for the management of these cancers.

Talk with Expectant Parents about Late Vitamin K Deficient Bleeding Among Infants

Centers for Disease Control (CDC) Podcasts

In this podcast, Dr. Lauren Marcewicz, a pediatrician with CDC’s Division of Blood Disorders, speaks about vitamin K deficiency bleeding in infants, the importance of vitamin K prophylaxis at birth, and how healthcare providers can provide the best information to their expectant parents.

Attitude towards pre-implantation genetic diagnosis for hereditary cancer

NARCIS (Netherlands)

Lammens, Chantal; Bleiker, Eveline; Aaronson, Neil; Vriends, Annette; Ausems, Margreet; Jansweijer, Maaike; Wagner, Anja; Sijmons, Rolf; van den Ouweland, Ans; van der Luijt, Rob; Spruijt, Liesbeth; Gómez García, Encarna; Ruijs, Mariëlle; Verhoef, Senno

2009-01-01

The use of pre-implantation genetic diagnosis (PGD) for hereditary cancer is subject to on-going debate, particularly among professionals. This study evaluates the attitude towards PGD and attitude-associated characteristics of those concerned: family members with a hereditary cancer predisposition.

Chaperonopathies: spotlight on hereditary motor neuropathies

Directory of Open Access Journals (Sweden)

Vincenzo Lupo

2016-12-01

Full Text Available Distal hereditary motor neuropathies (dHMN comprise a group of rare hereditary neuromuscular disorders characterized by a peroneal muscular atrophy without sensory symptoms. To date twenty-three genes for dHMN have been reported and four of them encode for chaperones: DNAJB2, which encodes a member of the HSP40/DNAJ co-chaperone family, and HSPB1, HSPB3 and HSPB8, which encode three members of the family of small heat shock proteins. Except for HSPB1, with around thirty different mutations, the remaining three genes comprise a much low number of cases. Thus, only one case has been described caused by an HSPB3 mutation, whereas few DNAJB2 and HSPB8 cases are known, most of them caused by a founder c.352+1G>A mutation in DNAJB2 and by mutations affecting the hot spot K141 residue of the HSPB8 chaperone. This low number of cases makes it difficult to understand the pathomechanism underlying the neuropathy. Chaperones can assemble in multi-chaperone complexes forming an integrative chaperone network in the cell, which plays relevant cellular roles in a variety of processes such as the correct folding of newly synthesized proteins, their escort to their precise cellular locations to form functional proteins and complexes and the response to protein misfolding, including the degradation of proteins that fail to refold properly. Despite of this variety of functions, mutations in some of them lead to diseases with a similar clinical picture, suggesting common pathways. This review gives an overview of the genetics of dHMNs caused by mutations in four genes, DNAJB2, HSPB1, HSPB3 and HSPB8, which encode chaperones and show a common disease mechanism.

A therapeutic-only versus prophylactic platelet transfusion strategy for preventing bleeding in patients with haematological disorders after myelosuppressive chemotherapy or stem cell transplantation

Science.gov (United States)

Crighton, Gemma L; Estcourt, Lise J; Wood, Erica M; Trivella, Marialena; Doree, Carolyn; Stanworth, Simon

2015-01-01

Background Platelet transfusions are used in modern clinical practice to prevent and treat bleeding in thrombocytopenic patients with bone marrow failure. Although considerable advances have been made in platelet transfusion therapy in the last 40 years, some areas continue to provoke debate, especially concerning the use of prophylactic platelet transfusions for the prevention of thrombocytopenic bleeding. This is an update of a Cochrane review first published in 2004 and updated in 2012 that addressed four separate questions: therapeutic-only versus prophylactic platelet transfusion policy; prophylactic platelet transfusion threshold; prophylactic platelet transfusion dose; and platelet transfusions compared to alternative treatments. We have now split this review into four smaller reviews looking at these questions individually; this review is the first part of the original review. Objectives To determine whether a therapeutic-only platelet transfusion policy (platelet transfusions given when patient bleeds) is as effective and safe as a prophylactic platelet transfusion policy (platelet transfusions given to prevent bleeding, usually when the platelet count falls below a given trigger level) in patients with haematological disorders undergoing myelosuppressive chemotherapy or stem cell transplantation. Search methods We searched for randomised controlled trials (RCTs) in the Cochrane Central Register of Controlled Trials (Cochrane Library 2015, Issue 6), MEDLINE (from 1946), Embase (from 1974), CINAHL (from 1937), the Transfusion Evidence Library (from 1950) and ongoing trial databases to 23 July 2015. Selection criteria RCTs involving transfusions of platelet concentrates prepared either from individual units of whole blood or by apheresis, and given to prevent or treat bleeding in patients with malignant haematological disorders receiving myelosuppressive chemotherapy or undergoing HSCT. Data collection and analysis We used standard methodological procedures

Interventions for treating acute bleeding episodes in people with acquired hemophilia A.

Science.gov (United States)

Zeng, Yan; Zhou, Ruiqing; Duan, Xin; Long, Dan; Yang, Songtao

2014-08-28

Acquired hemophilia A is a rare bleeding disorder caused by autoantibodies to coagulation factor VIII (FVIII). In most cases, bleeding episodes are spontaneous and severe at presentation. The optimal hemostatic therapy is controversial. To determine the efficacy of hemostatic therapies for acute bleeds in people with acquired hemophilia A; and to compare different forms of therapy for these bleeds. We searched the Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library 2014, Issue 4) and MEDLINE (Ovid) (1948 to 30 April 2014). We searched the conference proceedings of the: American Society of Hematology; European Hematology Association; International Society on Thrombosis and Haemostasis (ISTH); and the European Association for Haemophilia and Allied Disorders (EAHAD) (from 2000 to 30 April 2014). In addition to this we searched clinical trials registers. All randomised controlled trials and quasi-randomised trials of hemostatic therapies for people with acquired hemophilia A, with no restrictions on gender, age or ethnicity. No trials matching the selection criteria were eligible for inclusion. No trials matching the selection criteria were eligible for inclusion. No randomised clinical trials of hemostatic therapies for acquired hemophilia A were found. Thus, we are not able to draw any conclusions or make any recommendations on the optimal hemostatic therapies for acquired hemophilia A based on the highest quality of evidence. GIven that carrying out randomized controlled trials in this field is a complex task, the authors suggest that, while planning randomised controlled trials in which patients can be enrolled, clinicians treating the disease continue to base their choices on alternative, lower quality sources of evidence, which hopefully, in the future, will also be appraised and incorporated in a Cochrane Review.

The 3p21.1-p21.3 hereditary vascular retinopathy locus increases the risk for Raynaud's phenomenon and migraine

NARCIS (Netherlands)

Hottenga, J. J.; Vanmolkot, K. R. J.; Kors, E. E.; Kheradmand Kia, S.; de Jong, P. T. V. M.; Haan, J.; Terwindt, G. M.; Frants, R. R.; Ferrari, M. D.; van den Maagdenberg, A. M. J. M.

2005-01-01

Previously, we described a large Dutch family with hereditary vascular retinopathy (HVR), Raynaud's phenomenon and migraine. A locus for HVR was mapped on chromosome 3p21.1-p21.3, but the gene has not yet been identified. The fact that all three disorders share a vascular aetiology prompted us to

Granulocytes and vascularization regulate uterine bleeding and tissue remodeling in a mouse menstruation model.

Directory of Open Access Journals (Sweden)

Astrid Menning

Full Text Available Menstruation-associated disorders negatively interfere with the quality of life of many women. However, mechanisms underlying pathogenesis of menstrual disorders remain poorly investigated up to date. Among others, this is based on a lack of appropriate pre-clinical animal models. We here employ a mouse menstruation model induced by priming mice with gonadal hormones and application of a physical stimulus into the uterus followed by progesterone removal. As in women, these events are accompanied by menstrual-like bleeding and tissue remodeling processes, i.e. disintegration of decidualized endometrium, as well as subsequent repair. We demonstrate that the onset of bleeding coincides with strong upregulation of inflammatory mediators and massive granulocyte influx into the uterus. Uterine granulocytes play a central role in regulating local tissue remodeling since depletion of these cells results in dysregulated expression of matrix modifying enzymes. As described here for the first time, uterine blood loss can be quantified by help of tampon-like cotton pads. Using this novel technique, we reveal that blood loss is strongly reduced upon inhibition of endometrial vascularization and thus, is a key regulator of menstrual bleeding. Taken together, we here identify angiogenesis and infiltrating granulocytes as critical determinants of uterine bleeding and tissue remodeling in a mouse menstruation model. Importantly, our study provides a technical and scientific basis allowing quantification of uterine blood loss in mice and thus, assessment of therapeutic intervention, proving great potential for future use in basic research and drug discovery.

Squamous cell carcinoma complicating an hereditary epidermo-lysis bullosa

International Nuclear Information System (INIS)

Mseddi, M.; Turki, H.; Marrekchi, S.; Abdelmaksoud, W.; Masmoudi, A.; Bouassida, S.; Zahaf, A.

2004-01-01

The dystrophic form of hereditary epidermo-lysis bullosa is associated with an increased frequency of squamous cell carcinoma. We report a new case. An 18-year-old patient, carrying a Hallopeau Siemens hereditary epidermo-lysis bullosa, presented a subcutaneous nodular lesion, for 1 year that ulcerated and budded with inguinal lymphadenopathy. The histological study ted to the conclusion of a well differentiated squamous cell carcinoma. The patient was treated surgically. Tumor and metastatic lymph nodes were excised. A radiotherapy was decided but the postoperative course was fatal due to an infection and to a deterioration of her general condition. Squamous cell carcinoma frequently occurs on the cicatricial lesion of hereditary epidermo-lysis bullosa and usually affects males with recessive hereditary epidermo-lysis bullosa. Metastases are frequent, precocious and multiple. The treatment may be surgical. The particularities of our observation are the young age of patient and the localization. (author)

Hereditary Lymphedema of the Leg – A Case Report

Directory of Open Access Journals (Sweden)

Birgit Heinig

2017-07-01

Full Text Available Primary of hereditary lymphedema is a rare but progressive disease. It is yet not curable. We present a 48-year-old male patient with hereditary lymphedema of his left leg, that was realised by minor trauma (able twist when he was seven years old. He had never been treated for lymphedema but experienced multiple erysipelas during his life. After diagnostic procedures to exclude other causes of leg swelling, the diagnosis of hereditary lymphedema of the leg, stage III was confirmed. We initialized complex decongestive therapy. During two weeks of intensive treatment, the circumference of the left leg could be reduced by 10 cm. This case illustrates the "natural course" hereditary lymphedema. But it raises the hope that even after decades of ignorance, the patients benefits from complex decongestive treatment. Therapeutic nihilism is unnecessary and poses lymphedema patients to risks of infection and secondary malignancies like Stewart-Trewes syndrome.

The prevalence of depression in hereditary spastic paraplegia.

Science.gov (United States)

Vahter, L; Braschinsky, M; Haldre, S; Gross-Paju, K

2009-09-01

To evaluate the prevalence of depression and sensitivity and specificity of the single-item interview 'Are you depressed?' for people with hereditary spastic paraplegia in Estonia. Single-item interview 'Are you depressed?' was used as a screening question for depression; all participants then completed the Beck Depression Inventory. People with hereditary spastic paraplegia identified from the epidemiological database who agreed to participate in the study. Beck Depression Inventory, clinical interview. The epidemiological database consisted of 59 patients with clinically confirmed diagnosis of hereditary spastic paraplegia. Forty-eight of these consented to participate in the study. The Beck Depression Inventory score was higher than cut-off point in 58% (28/48) and lower in 42% (20/48). Of the study group, 44% (21/48) had mild, 13% (6/48) moderate and one person revealed severe depression. There was a statistically significant correlation between Beck Depression Inventory score and level of mobility; no other significant correlations with other measures were detected. Of the participants, 54% (26/48) had subjective complaints about depression and answered 'Yes' to the single-item interview 'Are you depressed?'. The sensitivity of the one-item interview in the hereditary spastic paraplegia group was 75% and specificity 75%. Our results show that mild depression is prevalent among people with hereditary spastic paraplegia. Although the single question may be helpful, it cannot be relied upon entirely when assessing a person for depression.

Knowledge regarding basic concepts of hereditary cancers, and the ...

African Journals Online (AJOL)

Background. In families with hereditary cancer, at-risk individuals can benefit from genetic counselling and testing. General practitioners (GPs) are ideally placed to identify such families and refer them appropriately. Objective. To assess the practices, knowledge and attitudes of GPs regarding common hereditary cancers.

Upper GI Bleeding in Children

Science.gov (United States)

Upper GI Bleeding in Children What is upper GI Bleeding? Irritation and ulcers of the lining of the esophagus, stomach or duodenum can result in upper GI bleeding. When this occurs the child may vomit blood ...

Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17

NARCIS (Netherlands)

Defesche, J. C.; Hoogendijk, J. E.; de Visser, M.; de Visser, O.; Bolhuis, P. A.

1990-01-01

Hereditary motor and sensory neuropathy type 1 (HMSN I) is an autosomal dominant disorder genetically localized on chromosome 1 in a few families and on chromosome 17 in other families. We analyzed linkage between 6 markers of chromosome 1, 2 markers of chromosome 17, and the HMSN I locus using

Hereditary thrombophilia and recurrent pregnancy loss: a retrospective cohort study of pregnancy outcome and obstetric complications

DEFF Research Database (Denmark)

Lund, M; Nielsen, H S; Hviid, T V

2010-01-01

was found to be associated with FVL/PT mutations. CONCLUSIONS: In the unadjusted analysis, FVL and PT mutations have a negative prognostic impact on the live birth rate in women with RPL; however, when adjusting for significant covariates, the results no longer reach statistical significance. Strong......-mutation carriers and 6 were PT-mutation carriers. The unadjusted live birth rate was 45.7% in FVL/PT carriers versus 63.4% in FVL/PT non-carriers, P = 0.04. The adjusted odds ratio for live birth in FVL/PT carriers was 0.48 (95% CI = 0.23-1.01), P = 0.05. Among the obstetric complications, only excessive bleeding......BACKGROUND: The association among hereditary thrombophilia, recurrent pregnancy loss (RPL) and obstetric complications is yet uncertain. The objective of the study was to assess the prognostic value of the factor V Leiden (FVL) and prothrombin (PT) mutations for the subsequent chance of live birth...

Painless Urethral Bleeding During Penile Erection in an Adult Man With Klippel-Trenaunay Syndrome: A Case Report

Directory of Open Access Journals (Sweden)

Hongen Lei, MD, PhD

2018-06-01

Full Text Available Introduction: Klippel-Trenaunay syndrome (KTS is a rare congenital vascular disorder characterized by a triad of cutaneous port wine capillary malformations, varicose veins, and hemihypertrophy of bone and soft tissues. Aims: To report on a rare case of KTS in an adult man manifested by painless urethral bleeding during penile erection briefly review the clinical presentation and management of the genitourinary forms of this syndrome. Methods: On presentation, the clinical features of this patient, including medical history, signs and symptoms, and imaging examinations, were recorded. After diagnosis and initial treatment, a literature review of the urethral features of KTS was performed and is discussed in this report. Results: A 35-year-old man with KTS presented with painless urethral bleeding during penile erection that was associated with posterior urethral vascular malformations. The coagulation method was used to treat the malformation, and no urethral bleeding or gross hematuria occurred during a postoperative follow-up period of 6 months. Conclusion: This case demonstrates that coagulation therapy and careful follow-up can be adequate treatment approaches for urethral features of KTS. However, the long-term efficacy of coagulation for this disorder should be investigated further.Lei H, Guan X, Han H, et al. Painless Urethral Bleeding During Penile Erection in an Adult Man With Klippel-Trenaunay Syndrome: A Case Report. Sex Med 2018;6:180–183. Key Words: Urethral Bleeding, Klippel-Trenaunay Syndrome, Vascular Malformation, Posterior Urethra, Genitourinary Manifestation

Hereditary ectodermal dysplasia: Report of 11 patients from a family

Directory of Open Access Journals (Sweden)

Seema Vaidya

2013-01-01

Full Text Available Hereditary Ectodermal Dysplasia is an inherited disorder commonly involving skin, teeth, hair, and nails. We have observed ectodermal dysplasia (EDs in 11 individuals over two generations in one family. Smooth, dry, thin skin was seen in most affected individuals. All had fine, slow-growing scalp hair and body hair and some had sparse eyebrows and short eyelashes. Nearly all showed decrease in sweating. Severe teeth abnormalities were seen in all patients and fingernail abnormalities were not so severe but toenail abnormalities were seen in all patients. No other abnormalities were seen in affected individuals in this family. It is very rare to find such a large family having ectodermal dysplasia.

Management of bleeding in acquired hemophilia A: results from the European Acquired Haemophilia (EACH2) Registry.

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Baudo, Francesco; Collins, Peter; Huth-Kühne, Angela; Lévesque, Hervé; Marco, Pascual; Nemes, László; Pellegrini, Fabio; Tengborn, Lilian; Knoebl, Paul

2012-07-05

Acquired hemophilia A is a rare bleeding disorder caused by autoantibodies to coagulation FVIII. Bleeding episodes at presentation are spontaneous and severe in most cases. Optimal hemostatic therapy is controversial, and available data are from observational and retrospective studies only. The EACH2 registry, a multicenter, pan-European, Web-based database, reports current patient management. The aim was to assess the control of first bleeding episodes treated with a bypassing agent (rFVIIa or aPCC), FVIII, or DDAVP among 501 registered patients. Of 482 patients with one or more bleeding episodes, 144 (30%) received no treatment for bleeding; 31 were treated with symptomatic therapy only. Among 307 patients treated with a first-line hemostatic agent, 174 (56.7%) received rFVIIa, 63 (20.5%) aPCC, 56 (18.2%) FVIII, and 14 (4.6%) DDAVP. Bleeding was controlled in 269 of 338 (79.6%) patients treated with a first-line hemostatic agent or ancillary therapy alone. Propensity score matching was applied to allow unbiased comparison between treatment groups. Bleeding control was significantly higher in patients treated with bypassing agents versus FVIII/DDAVP (93.3% vs 68.3%; P = .003). Bleeding control was similar between rFVIIa and aPCC (93.0%; P = 1). Thrombotic events were reported in 3.6% of treated patients with a similar incidence between rFVIIa (2.9%) and aPCC (4.8%).

[Menstrual disorders in adolescents: commonplace or worrisome?].

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Jacot-Guillarmod, M; Renteria, S C

2010-06-16

The first menstrual cycles following menarche are often caracterized by irregular and/or heavy bleeding. The adolescent patient may be worried by these episodes of bleeding. In 50-80% of cases these are anovulatory bleeding due to the immaturity of the gonadotrophic axis. Nevertheless pathologies such as von Willebrand disease, genital infection, polycystic ovary syndrom, eating disorders, a tumor or a pregnancy may be diagnosed by bleeding abnormalities. The challenge for the physician is to distinguish between bleeding abnormalities secondary to anovulation and pathologies where investigations and specific follow-up is mandatory. Adolescents who experience abnormal bleeding must be counceled according to their perceptions and expectations.

Thalidomide for treatment of gastrointestinal bleedings due to angiodysplasia : a case report in acquired von Willebrand syndrome and review of the literature

NARCIS (Netherlands)

Engelen, E T; van Galen, K P M; Schutgens, R E G

INTRODUCTION: Acquired von Willebrand syndrome is a rare bleeding disorder and treatment of the associated gastrointestinal (GI) bleeding due to angiodysplasia is challenging. AIM: The aim of this study was to present a new case on the successful use of thalidomide in a patient with acquired von

Hereditary Neuropathy With Liability to Pressure Palsies: Diverse Phenotypes in Childhood.

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Harada, Yohei; Puwanant, Araya; Herrmann, David N

2016-12-01

Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare autosomal-dominant disorder that most commonly produces recurrent painless focal sensory and motor neuropathies often preceded by minor, mechanical stress, or minor trauma. Herein, we report 2 pediatric cases of HNPP with atypical presentations; isolated muscle cramping and toe walking. Electrophysiologic testing disclosed multifocal sensorimotor polyneuropathy with slowing of sensory conduction velocities in both cases, which prompted PMP 22 gene deletion testing. Multifocal sensorimotor electrophysiologic abnormalities, with slowing of sensory conduction velocities should raise consideration of HNPP in childhood. These case reports emphasize that the diagnosis of HNPP in children requires a high index of suspicion.

Both Hemophilia Health Care Providers and Hemophilia A Carriers Report that Carriers have Excessive Bleeding

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Paroskie, Allison; Oso, Olatunde; DeBaun, Michael R.; Sidonio, Robert F

2014-01-01

Introduction Hemophilia A, the result of reduced factor VIII (FVIII) activity, is an X-linked recessive bleeding disorder. Previous reports of Hemophilia A carriers suggest an increased bleeding tendency. Our objective was to determine the attitudes and understanding of the Hemophilia A carrier bleeding phenotype, and opinions regarding timing of carrier testing from the perspective of both medical providers and affected patients. Data from this survey was used as preliminary data for an ongoing prospective study. Material and Methods An electronic survey was distributed to physicians and nurses employed at Hemophilia Treatment Centers (HTC), and Hemophilia A carriers who were members of Hemophilia Federation of America. Questions focused on the clinical understanding of bleeding symptoms and management of Hemophilia A carriers, and the timing and intensity of carrier testing. Results Our survey indicates that 51% (36/51) of providers compared to 78% (36/46) of carriers believe that Hemophilia A carriers with normal FVIII activity have an increased bleeding tendency (pHemophilia A carriers report a high frequency of bleeding symptoms. Regarding carrier testing, 72% (50/69) of medical providers recommend testing after 14 years of age, conversely 65% (29/45) of Hemophilia A carriers prefer testing to be done prior to this age (pHemophilia A carriers self-report a higher frequency of bleeding than previously acknowledged, and have a preference for earlier testing to confirm carrier status. PMID:24309601

Dysfunctional Uterine Bleeding (DUB) (For Teens)

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... Staying Safe Videos for Educators Search English Español Abnormal Uterine Bleeding (AUB) KidsHealth / For Teens / Abnormal Uterine Bleeding (AUB) ... Print en español Sangrado uterino anormal What Is Abnormal Uterine Bleeding? Abnormal uterine bleeding (AUB) is the name doctors ...

Prospective randomized trial of sclerotherapy vs standard treatment for epistaxis due to hereditary hemorrhagic telangiectasia.

Science.gov (United States)

Boyer, Holly; Fernandes, Patricia; Le, Chap; Yueh, Bevan

2015-05-01

Our previous studies have demonstrated the tolerability and low side-effect profile of office-based sclerotherapy with sodium tetradecyl sulfate (STS) for treating recurrent epistaxis due to hereditary hemorrhagic telangiectasia (HHT). The objective of this study was to use a prospective randomized trial to determine the effectiveness of sclerotherapy with STS vs standard treatment. This prospective randomized trial (conducted from November 1, 2011, through January 31, 2014) involved 17 patients with recurrent epistaxis due to HHT. We defined standard treatment as continuation of any treatment that the patient had previously undergone, such as moisturization, packing, and cautery. We used a crossover design, so study participants were randomized to either sclerotherapy or standard treatment during the first time period, and then to the other during the second period. The primary outcome measure was frequency and severity of epistaxis, as measured by the epistaxis severity score (ESS). The ESS is a 10-point scale, with higher scores corresponding to more bleeding. After controlling for treatment order, bleeding was substantially better controlled after sclerotherapy; the ESS after sclerotherapy was nearly one point lower than after standard treatment (-0.95, 1-sided p = 0.027). Treatment order, baseline ESS, the number of lesions, moisturization practices, and a history of previous blood transfusions did not significantly affect the results. This trial demonstrated that sclerotherapy with STS (vs standard treatment) significantly reduced epistaxis due to HHT. © 2015 ARS-AAOA, LLC.

Heavy menstrual bleeding: An update on management.

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Davies, Joanna; Kadir, Rezan A

2017-03-01

Heavy menstrual bleeding (HMB) is defined as excessive menstrual blood loss (MBL) >80 mL per cycle, that interferes with a woman's physical, emotional, social wellbeing and quality of life. Aetiology is due to underlying uterine pathologies, coagulopathy, ovulation dysfunction, or iatrogenic. Up to 20% of women with HMB will have an underlying inherited bleeding disorder (IBD). Assessment of HMB should entail a menstrual and gynaecological history and a bleeding score to distinguish those women who require additional haematological investigations. A pelvic examination and ultrasound scan help to rule out presence of any underlying pathology. Management depends on the underlying cause and the woman's preference and her fertility wishes. Medical therapies include hormonal treatments; levonorgestrel-releasing intrauterine system (LNG-IUS) and combined hormonal contraceptives are most commonly used. Ulipristal acetate is an approved preoperative treatment for uterine fibroids, and has demonstrated efficacy in reducing MBL. Haemostatic therapies include tranexamic acid and DDAVP (1-deamino-8-D-arginine). DDAVP is used for HMB associated with certain IBDs. These therapies can be used in isolation or in combination with hormonal treatments. HMB associated with certain severe IBDs may require factor concentrate administration during menses to alleviate symptoms. Endometrial ablation is a minor surgical procedure that is associated with low operative morbidity and can be performed as an outpatient. Hysterectomy remains the definitive treatment of choice when medical therapies have failed and endometrial ablation is not suitable. Crown Copyright © 2017 Published by Elsevier Ltd. All rights reserved.

Hereditary familial vestibular degenerative diseases.

NARCIS (Netherlands)

Sun, J.; Alphen, A.M. van; Wagenaar, M.; Huygen, P.L.M.; Hoogenraad, C.C.; Hasson, T.; Koekkoek, S.K.; Bohne, B.A.; Zeeuw, C.I. de

2001-01-01

Identification of genes involved in hereditary vestibular disease is growing at a remarkable pace. Mutant mouse technology can be an important tool for understanding the biological mechanism of human vestibular diseases.

Disease expression in women with hereditary angioedema

DEFF Research Database (Denmark)

Bouillet, Laurence; Longhurst, Hilary; Boccon-Gibod, Isabelle

2008-01-01

OBJECTIVE: Fluctuations in sex hormones can trigger angioedema attacks in women with hereditary angioedema. Combined oral contraceptive therapies, as well as pregnancy, can induce severe attacks. The course of angioedema may be very variable in different women. STUDY DESIGN: Within the PREHAEAT p......-sensitive phenotype for some patients. CONCLUSION: The course of angioedema in women with C1 inhibitor deficiency is affected by physiologic hormonal changes; consequently, physicians should take these into account when advising on management.......OBJECTIVE: Fluctuations in sex hormones can trigger angioedema attacks in women with hereditary angioedema. Combined oral contraceptive therapies, as well as pregnancy, can induce severe attacks. The course of angioedema may be very variable in different women. STUDY DESIGN: Within the PREHAEAT...... project launched by the European Union, data on 150 postpubertal women with hereditary angioedema were collected in 8 countries, using a patient-based questionnaire. RESULTS: Puberty worsened the disease for 62%. Combined oral contraceptives worsened the disease for 79%, whereas progestogen-only pills...

Management of severe perioperative bleeding

DEFF Research Database (Denmark)

Kozek-Langenecker, Sibylle A; Ahmed, Aamer B; Afshari, Arash

2017-01-01

: The management of perioperative bleeding involves multiple assessments and strategies to ensure appropriate patient care. Initially, it is important to identify those patients with an increased risk of perioperative bleeding. Next, strategies should be employed to correct preoperative anaemia...... and to stabilise macrocirculation and microcirculation to optimise the patient's tolerance to bleeding. Finally, targeted interventions should be used to reduce intraoperative and postoperative bleeding, and so prevent subsequent morbidity and mortality. The objective of these updated guidelines is to provide...

Accuracy of rockall score for in hospital re bleeding among cirrhotic patients with variceal bleed

International Nuclear Information System (INIS)

Asgher, S.; Saleem, M.K.

2015-01-01

To assess the diagnostic accuracy of Roc kall scoring system for predicting in-hospital re-ble- eding in cirrhotic patients presenting with variceal bleed. Material and Methods: This descriptive case series study was conducted at Department of Medicine Combined Military Hospital Lahore from December 2013 to May 2014. We included patients with liver cirrhosis who presented with upper GI bleeding and showed varices as the cause of bleeding on endoscopy. Clinical and endoscopic features were noted to calculate Rockall score. Patients with score < 2 and > 8 were included. After treating with appropriate pharmacological and endoscopic therapy, patients were followed for re-bleeding for 10 days. Diagnostic accuracy was assessed by calculating sensitivity, specificity, positive and negative predictive values using 2 x 2 tables. Results: In the study, 175 patients were included. Mean age was 51.5 ± 1.22 years. Male to female ratio was 1.5 to 1.0 out of 175 patients, 157 patients (89.7%) were of low risk group (score = 2) while 18 patients (10.3%) were in high risk group (score > 8). In low risk group, re-bleeding occurred only in 2 patients (1.2%) while in high risk group, re-bleeding occurred in 14 patients (78%). Rockall score was found to have good diagnostic accuracy with sensitivity of 87.5%, specificity of 97.48%, positive predictive value of 77.8% and negative predictive value of 98.7%. Conclusion: In cases of variceal bleed, frequency of re-bleed is less in patients who are in low risk category with lower Rockall score and high in high risk patients with higher rockall score. The Rockall score has a good diagnostic accuracy in prediction of re-bleed in variceal bleeding. (author)

Gastric tumours in hereditary cancer syndromes: clinical features, molecular biology and strategies for prevention.

Science.gov (United States)

Sereno, María; Aguayo, Cristina; Guillén Ponce, Carmen; Gómez-Raposo, César; Zambrana, Francisco; Gómez-López, Miriam; Casado, Enrique

2011-09-01

Gastric cancer is the major cause of cancer-related deaths worldwide. The majority of them are classified as sporadic, whereas the remaining 10% exhibit familial clustering. Hereditary diffuse gastric cancer (HDGC) syndrome is the most important condition that leads to hereditary gastric cancer. However, other hereditary cancer syndromes, such as hereditary non-polyposis colorectal cancer, familial adenomatous polyposis, Peutz-Jeghers syndrome, Li-Fraumeni syndrome and hereditary breast and ovarian cancer, entail a higher risk compared to the general population for developing this kind of neoplasia. In this review, we describe briefly the most important aspects related to clinical features, molecular biology and strategies for prevention in hereditary gastric associated to different cancer syndromes.

Molecular aspects in clinical hemostasis research at Karolinska Institutet.

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Blombäck, Margareta

2010-05-21

The development of hemostasis research at Karolinska Institutet is described, focusing first on the initial findings of the fibrinogen structure and the hereditary bleeding disorders, hemophilia A and von Willebrand's disease. Basic research has focused on new biomarkers for cardiovascular/thromboembolic disorders, such as myocardial infarction and stroke, including preeclampsia and diabetes, with studies on the importance of decreased fibrinolysis in these disorders. Since long, the structure of the fibrin network has been evaluated, and recently the influence of aspirin and new thrombin and factor Xa inhibitors has been investigated. Research on the contact pathway of coagulation has also started at the Unit. 2010 Elsevier Inc. All rights reserved.

Open-heart surgery using a centrifugal pump: a case of hereditary spherocytosis.

Science.gov (United States)

Matsuzaki, Yuichi; Tomioka, Hideyuki; Saso, Masaki; Azuma, Takashi; Saito, Satoshi; Aomi, Shigeyuki; Yamazaki, Kenji

2016-08-26

Hereditary spherocytosis is a genetic, frequently familial hemolytic blood disease characterized by varying degrees of hemolytic anemia, splenomegaly, and jaundice. There are few reports on adult open-heart surgery for patients with hereditary spherocytosis. We report a rare case of an adult open-heart surgery associated with hereditary spherocytosis. A 63-year-old man was admitted for congestive heart failure due to bicuspid aortic valve, aortic valve regurgitation, and sinus of subaortic aneurysm. The family history, the microscopic findings of the blood smear, and the characteristic osmotic fragility confirmed the diagnosis of hereditary spherocytosis. Furthermore, splenectomy had not been undertaken preoperatively. The patient underwent a successful operation by means of a centrifugal pump. Haptoglobin was used during the cardiopulmonary bypass, and a biological valve was selected to prevent hemolysis. No significant hemolysis occurred intraoperatively or postoperatively. There are no previous reports of patients with hereditary spherocytosis, and bicuspid aortic valve. We have successfully performed an adult open-heart surgery using a centrifugal pump in an adult patient suffering from hereditary spherocytosis and bicuspid aortic valve.

Hereditary lymphedema of the leg – A Case Report

NARCIS (Netherlands)

Heinig, Birgit; Lotti, T.; Tchernev, Georgi; Wollina, Uwe

2017-01-01

Primary of hereditary lymphedema is a rare but progressive disease. It is yet not curable. We present a 48-year-old male patient with hereditary lymphedema of his left leg, that was realised by minor trauma (able twist) when he was seven years old. He had never been treated for lymphedema but

Perioperative bleeding and blood transfusion are major risk factors for venous thromboembolism following bariatric surgery.

Science.gov (United States)

Nielsen, Alexander W; Helm, Melissa C; Kindel, Tammy; Higgins, Rana; Lak, Kathleen; Helmen, Zachary M; Gould, Jon C

2018-05-01

Morbidly obese patients are at increased risk for venous thromboembolism (VTE) after bariatric surgery. Perioperative chemoprophylaxis is used routinely with bariatric surgery to decrease the risk of VTE. When bleeding occurs, routine chemoprophylaxis is often withheld due to concerns about inciting another bleeding event. We sought to evaluate the relationship between perioperative bleeding and postoperative VTE in bariatric surgery. The American College of Surgeons-National Surgical Quality Improvement Program (NSQIP) dataset between 2012 and 2014 was queried to identify patients who underwent bariatric surgery. Gastric bypass (n = 28,145), sleeve gastrectomy (n = 30,080), bariatric revision (n = 324), and biliopancreatic diversion procedures (n = 492) were included. Univariate and multivariate regressions were used to determine perioperative factors predictive of postoperative VTE within 30 days in patients who experience a bleeding complication necessitating transfusion. The rate of bleeding necessitating transfusion was 1.3%. Bleeding was significantly more likely to occur in gastric bypass compared to sleeve gastrectomy (1.6 vs. 1.0%) (p surgeries, increased age, length of stay, operative time, and comorbidities including hypertension, dyspnea with moderate exertion, partially dependent functional status, bleeding disorder, transfusion prior to surgery, ASA class III/IV, and metabolic syndrome increased the perioperative bleeding risk (p Bariatric surgery patients who receive postoperative blood transfusion are at a significantly increased risk for VTE. The etiology of VTE in those who are transfused is likely multifactorial and possibly related to withholding chemoprophylaxis and the potential of a hypercoagulable state induced by the transfusion. In those who bleed, consideration should be given to reinitiating chemoprophylaxis when safe, extending treatment after discharge, and screening ultrasound.

New treatments of hereditary blindness

DEFF Research Database (Denmark)

Bertelsen, Mette; Rosenberg, Thomas; Larsen, Michael

2013-01-01

Ongoing clinical trials are targeting several previously intractable hereditary causes of blindness of congenital, childhood or early adulthood onset, mainly in the optic nerve and retina. The intended stage of initiation of the new therapeutic approaches ranges from neonatal life and a structura......Ongoing clinical trials are targeting several previously intractable hereditary causes of blindness of congenital, childhood or early adulthood onset, mainly in the optic nerve and retina. The intended stage of initiation of the new therapeutic approaches ranges from neonatal life...... and a structurally intact retinal tissue to adult life with a complete loss of photoreceptors. It must be assumed that some of the trials will succeed in producing new therapies and action must be taken to refine and accelerate diagnostics and to preserve therapeutic potential in blind people....

Birth defects and genetic disorders among Arab Americans--Michigan, 1992-2003.

Science.gov (United States)

Yanni, Emad A; Copeland, Glenn; Olney, Richard S

2010-06-01

Birth defects and genetic disorders are leading causes of infant morbidity and mortality in many countries. Population-based data on birth defects among Arab-American children have not been documented previously. Michigan has the second largest Arab-American community in the United States after California. Using data from the Michigan Birth Defects Registry (MBDR), which includes information on parents' country of birth and ancestry, birth prevalences were estimated in offspring of Michigan women of Arab ancestry for 21 major categories of birth defects and 12 congenital endocrine, metabolic, and hereditary disorders. Compared with other non-Hispanic white children in Michigan, Arab-American children had similar or lower birth prevalences of the selected types of structural birth defects, with higher rates of certain hereditary blood disorders and three categories of metabolic disorders. These estimates are important for planning preconception and antenatal health care, genetic counseling, and clinical care for Arab Americans.

To Bleed or Not to Bleed: That is the Question. The Side Effects of Apixaban.

Science.gov (United States)

Ciccone, Marco Matteo; Zito, Annapaola; Devito, Fiorella; Maiello, Maria; Palmiero, Pasquale

2018-01-01

Apixaban is a new oral anticoagulant (NOACs: Novel Oral Anticoagulant), like dabigatran, rivaroxaban, and edoxaban. All of them are prescribed to patients with non valvular atrial fibrillation or venous thromboembolism, to replace warfarin, because of the lower probability of bleeding, however they can cause bleeding by themselves. Bleeding is an adverse event in patients taking anticoagulants. It is associated with a significant increase of morbidity and risk of death. However, these drugs should be used only for the time when anticoagulation is strictly required, especially when used for preventing deep vein thrombosis. Prolonged use increases the risk of bleeding. In the ARISTOTLE Trial Apixaban, compared with warfarin, was associated with a lower rate of intracranial hemorrhages and less adverse consequences following extracranial hemorrhage. Many physicians still have limited experience with new oral anticoagulants and about bleeding risk managment. We reviewed the available literature on extracranial and intracranial bleeding concerning apixaban. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Bleeding into the skin

Science.gov (United States)

... this page: //medlineplus.gov/ency/article/003235.htm Bleeding into the skin To use the sharing features on this page, please enable JavaScript. Bleeding into the skin can occur from broken blood ...

Renal Bleeding Due to Extramedullary Hematopoiesis in a Patient With Chronic Myelogenous Leukemia

Directory of Open Access Journals (Sweden)

Stephanie Zettner

2014-11-01

Full Text Available Chronic myelogenous leukemia (CML is a myeloproliferative disorder that normally presents in middle-aged adults. Renal infiltration and extramedullary hematopoiesis in renal tissue has been rarely reported. This case report presents a patient with CML and renal insufficiency who developed gross hematuria. Efforts at controlling the hematuria led to a cascade of events propelled by the underlying disorder that ultimately led to a radical nephrectomy, multiorgan failure, and prolonged hospitalization. We suggest that management of gross hematuria in clinically stable patients with CML, suspected of having extramedullary hematopoiesis, should prioritize treatment of the myeloproliferative disorder over efforts to control bleeding.

Renal Bleeding Due to Extramedullary Hematopoiesis in a Patient With Chronic Myelogenous Leukemia.

Science.gov (United States)

Zettner, Stephanie; Mistry, Sandeep G

2014-11-01

Chronic myelogenous leukemia (CML) is a myeloproliferative disorder that normally presents in middle-aged adults. Renal infiltration and extramedullary hematopoiesis in renal tissue has been rarely reported. This case report presents a patient with CML and renal insufficiency who developed gross hematuria. Efforts at controlling the hematuria led to a cascade of events propelled by the underlying disorder that ultimately led to a radical nephrectomy, multiorgan failure, and prolonged hospitalization. We suggest that management of gross hematuria in clinically stable patients with CML, suspected of having extramedullary hematopoiesis, should prioritize treatment of the myeloproliferative disorder over efforts to control bleeding.

Bilateral Pseudarthrosis of the Femoral Neck in a 25-Year-Old Male with Hereditary Hypophosphatemic Rickets

Directory of Open Access Journals (Sweden)

Joris Anthonissen

2014-01-01

Full Text Available Hereditary hypophosphatemic rickets (HHR is a rare disorder of renal phosphate wasting and the most common form of heritable rickets. Here, we report a case of an active 25-year-old male with HHR showing atraumatic bilateral femoral neck pseudarthrosis after 4 years of consecutive knee pain. A conservative therapy was administered, taking into account both the risks of surgical treatment and the little impairment even in the sport activities which the patient experienced.

Hereditary breast cancer: from molecular pathology to tailored therapies.

Science.gov (United States)

Tan, D S P; Marchiò, C; Reis-Filho, J S

2008-10-01

Hereditary breast cancer accounts for up to 5-10% of all breast carcinomas. Recent studies have demonstrated that mutations in two high-penetrance genes, namely BRCA1 and BRCA2, are responsible for about 16% of the familial risk of breast cancer. Even though subsequent studies have failed to find another high-penetrance breast cancer susceptibility gene, several genes that confer a moderate to low risk of breast cancer development have been identified; moreover, hereditary breast cancer can be part of multiple cancer syndromes. In this review we will focus on the hereditary breast carcinomas caused by mutations in BRCA1, BRCA2, Fanconi anaemia (FANC) genes, CHK2 and ATM tumour suppressor genes. We describe the hallmark histological features of these carcinomas compared with non-hereditary breast cancers and show how an accurate histopathological diagnosis may help improve the identification of patients to be screened for mutations. Finally, novel therapeutic approaches to treat patients with BRCA1 and BRCA2 germ line mutations, including cross-linking agents and PARP inhibitors, are discussed.

Iron Deficiency Anemia in Adolescents Who Present with Heavy Menstrual Bleeding.

Science.gov (United States)

Cooke, Amanda G; McCavit, Timothy L; Buchanan, George R; Powers, Jacquelyn M

2017-04-01

To assess the clinical severity and initial treatment of iron deficiency anemia (IDA) in female adolescents with heavy menstrual bleeding (HMB) in our center. Retrospective cohort study of electronic medical records via search of administrative records using International Classification of Diseases Ninth Revision codes for IDA or unspecified anemia and disorders of menstruation. Children's Medical Center in Dallas, Texas. One hundred seven patients with HMB and concomitant IDA (median age, 14.4 years) who presented to the outpatient, emergency department, and/or inpatient settings. The median initial hemoglobin concentration for all patients (n = 107) was 7.4 g/dL, and most (74%, n = 79) presented to the emergency department or via inpatient transfer. Symptomatic IDA was treated with blood transfusion in 46 (43%, n = 46). Ferrous sulfate was the most commonly prescribed oral iron therapy. Seven patients received intravenous iron therapy either initially or after oral iron treatment failure. Combined oral contraceptives were commonly prescribed for abnormal uterine bleeding, yet 10% of patients (n = 11) received no hormonal therapy during their initial management. Evaluation for underlying bleeding disorders was inconsistent. Severe anemia because of IDA and HMB resulting in urgent medical care, including hospitalization and blood transfusion, is a common but underemphasized problem in adolescent girls. In addition to prevention and early diagnosis, meaningful efforts to improve initial management of adolescents with severe HMB and IDA are necessary. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Major bleeding and intracranial hemorrhage risk prediction in patients with atrial fibrillation: Attention to modifiable bleeding risk factors or use of a bleeding risk stratification score? A nationwide cohort study.

Science.gov (United States)

Chao, Tze-Fan; Lip, Gregory Y H; Lin, Yenn-Jiang; Chang, Shih-Lin; Lo, Li-Wei; Hu, Yu-Feng; Tuan, Ta-Chuan; Liao, Jo-Nan; Chung, Fa-Po; Chen, Tzeng-Ji; Chen, Shih-Ann

2018-03-01

While modifiable bleeding risks should be addressed in all patients with atrial fibrillation (AF), use of a bleeding risk score enables clinicians to 'flag up' those at risk of bleeding for more regular patient contact reviews. We compared a risk assessment strategy for major bleeding and intracranial hemorrhage (ICH) based on modifiable bleeding risk factors (referred to as a 'MBR factors' score) against established bleeding risk stratification scores (HEMORR 2 HAGES, HAS-BLED, ATRIA, ORBIT). A nationwide cohort study of 40,450 AF patients who received warfarin for stroke prevention was performed. The clinical endpoints included ICH and major bleeding. Bleeding scores were compared using receiver operating characteristic (ROC) curves (areas under the ROC curves [AUCs], or c-index) and the net reclassification index (NRI). During a follow up of 4.60±3.62years, 1581 (3.91%) patients sustained ICH and 6889 (17.03%) patients sustained major bleeding events. All tested bleeding risk scores at baseline were higher in those sustaining major bleeds. When compared to no ICH, patients sustaining ICH had higher baseline HEMORR 2 HAGES (p=0.003), HAS-BLED (pbleeding scores, c-indexes were significantly higher compared to MBR factors (pbleeding. C-indexes for the MBR factors score was significantly lower compared to all other scores (De long test, all pbleeding risk scores for major bleeding (all pbleeding risk scores had modest predictive value for predicting major bleeding but the best predictive value and NRI was found for the HAS-BLED score. Simply depending on modifiable bleeding risk factors had suboptimal predictive value for the prediction of major bleeding in AF patients, when compared to the HAS-BLED score. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

Psychiatric disorders appear equally in patients with myotonic dystrophy, facioscapulohumeral dystrophy, and hereditary motor and sensory neuropathy type I.

NARCIS (Netherlands)

Kalkman, J.S.; Schillings, M.L.; Zwarts, M.J.; Engelen, B.G.M. van; Bleijenberg, G.

2007-01-01

OBJECTIVES: To study the presence of psychiatric comorbidity assessed by the use of a structured clinical interview and self-reported questionnaires in a large sample of patients with adult-onset myotonic dystrophy (DM), facioscapulohumeral muscular dystrophy (FSHD), and hereditary motor and sensory

Comparing Bleeding Risk Assessment Focused on Modifiable Risk Factors Only Versus Validated Bleeding Risk Scores in Atrial Fibrillation

DEFF Research Database (Denmark)

Guo, Yutao; Zhu, Hang; Chen, Yundai

2018-01-01

BACKGROUNDThere is uncertainty whether a focus on modifiable bleeding risk factors offers better prediction of major bleeding than other existing bleeding risk scores.METHODSThis study compared a score based on numbers of the modifiable bleeding risk factors recommended in the 2016 European...... guidelines ("European risk score") versus other published bleeding risk scores that have been derived and validated in atrial fibrillation subjects (HEMORR2HAGES, HAS-BLED, ATRIA, and ORBIT) in a large hospital-based cohort of Chinese inpatients with atrial fibrillation.RESULTSThe European score had modest...... predictive ability for major bleeding (c-index 0.63, 95% confidence interval 0.56-0.69) and intracranial hemorrhage (0.72, 0.65-0.79) but nonsignificantly (and poorly) predicted extracranial bleeding (0.55, 0.54-0.56; P = .361). The HAS-BLED score was superior to predict bleeding events compared...

The use of 111In-labelled platelets for scintigraphic localization of gastrointestinal bleeding with special reference to occult bleeding

International Nuclear Information System (INIS)

Gjerloeff Schmidt, K.; Waever Rasmussen, J.; Grove, O.; Andersen, D.

1986-01-01

Gamma-camera imaging of the abdomen after injection of autologous 111 In-labelled platelets was applied for localization of gastrointestinal bleeding in a study of 22 patients. In 15 studies showing scintigraphic signs of bleeding, the clinical presentation included occult bleeding in 6, melaena in 4, and bloody stools in 5 patients. Scintigraphy could be done repeatedly for up to 1 week after a single tracer injection. The time interval between the injection and scintigraphic visualization of bleeding ranged from 10 min to 68 h, being longest in cases of occult bleeding. In most cases the scintigraphic findings were supported by other diagnostic modalities, including surgical removal of presumed sources of bleeding. In seven studies without scintigraphic signs of bleeding, a probable source of bleeding was identified by other means in one patient. The 111 In-platelet method seems to be a promising method for localization of gastrointestinal bleeding which may prove particularly useful in cases of occult or recurrent bleeding

Vaginal bleeding between periods

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... this page: //medlineplus.gov/ency/article/003156.htm Vaginal bleeding between periods To use the sharing features ... this page, please enable JavaScript. This article discusses vaginal bleeding that occurs between a woman's monthly menstrual ...

Value of Adjusted Blood Requirement Index in determining failure to control bleed in patients with variceal bleeding.

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Abid, Shahab; Khalid, Abdullah B; Awan, Safia; Shah, Hasnain A; Hamid, Saeed; Jafri, Wasim

2015-03-01

Variceal bleeding is a serious complication in patients with cirrhosis. Among the criteria that were proposed in Baveno conferences, the Adjusted Blood Requirement Index (ABRI) has not been validated prospectively in clinical practice. We therefore aim to evaluate the measurement of ABRI as a marker of failure to control bleeding and to evaluate the consistency of ABRI in relation to other criteria of failure to control variceal bleeding. All patients with variceal bleeding who presented to Aga Khan University Hospital from January 2010 to December 2012 who were administered transfusion of packed red blood cells were included after obtaining informed consent. All patients were managed as per the standard protocol with intravenous terlipressin along with band ligation and injection of cyanoacrylate in cases of esophageal and fundal varices, respectively. Hemoglobin and hematocrit were measured every 6 h for 48 h and then every 12 h until 5 days of index bleed in each patient. Packed cells were transfused if hemoglobin decreased below 8 g/dl. The number of blood units transfused, change in hemoglobin values, and ABRI were calculated after each unit of blood transfusion till 120 h. In patients in whom bleed could not be controlled, an ABRI value of 0.75 or more was compared with other Baveno IV-based parameters that define failure to control variceal bleeding. During the study period, 137 eligible patients with variceal bleed were admitted. The mean age of the patients was 52±12 years. The majority of patients (50.4%) were in Child-Pugh class B, followed by 38% in Child-Pugh class C. According to the Baveno IV criteria, overall failure to control acute variceal bleeding occurred in 52 (37.9%) patients. Excluding ABRI, failure to control bleeding was found in 22/137 (16%) patients, whereas ABRI-based criteria showed that in 34/137 (24.8%) patients, bleeding could not be controlled. There were only four (2.9%) patients with variceal bleeding in whom ABRI and

Abnormal Uterine Bleeding FAQ

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... acid —This medication treats heavy menstrual bleeding. • Nonsteroidal anti-inflammatory drugs—These drugs, which include ibuprofen, may help control heavy bleeding and relieve menstrual cramps. • Antibiotics—If you have an infection, you may be ...

Molecular and Genetic Basis of Hereditary Connective-Tissue Diseases Accompanied by Frequent Fractures

Directory of Open Access Journals (Sweden)

G. T. Yakhyaeva

2016-01-01

Full Text Available Frequent bone fractures in infancy require the elimination of a large number (> 100 of genetic disorders. The modern diagnostic method of hereditary diseases characterized by debilitating course is a new generation sequencing. The article presents the results of molecular-genetic study conducted in 18 patients with clinical symptoms of connective tissue disorders. 10 (56% patients had mutations in the genes encoding type I collagen chains, leading to the development of osteogenesis imperfecta, 5 (28% — mutations in IV and V type collagen genes that are responsible for the development of Ehlers-Danlos syndrome. 3 (17% patients had mutations in the gene encoding fibrillin-1 protein, deficiency of which is manifested by Marfan syndrome. However, the correlation between patient's phenotype and discovered mutations in the investigated gene is established not in all cases.

Automated registration of tail bleeding in rats.

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Johansen, Peter B; Henriksen, Lars; Andresen, Per R; Lauritzen, Brian; Jensen, Kåre L; Juhl, Trine N; Tranholm, Mikael

2008-05-01

An automated system for registration of tail bleeding in rats using a camera and a user-designed PC-based software program has been developed. The live and processed images are displayed on the screen and are exported together with a text file for later statistical processing of the data allowing calculation of e.g. number of bleeding episodes, bleeding times and bleeding areas. Proof-of-principle was achieved when the camera captured the blood stream after infusion of rat whole blood into saline. Suitability was assessed by recording of bleeding profiles in heparin-treated rats, demonstrating that the system was able to capture on/off bleedings and that the data transfer and analysis were conducted successfully. Then, bleeding profiles were visually recorded by two independent observers simultaneously with the automated recordings after tail transection in untreated rats. Linear relationships were found in the number of bleedings, demonstrating, however, a statistically significant difference in the recording of bleeding episodes between observers. Also, the bleeding time was longer for visual compared to automated recording. No correlation was found between blood loss and bleeding time in untreated rats, but in heparinized rats a correlation was suggested. Finally, the blood loss correlated with the automated recording of bleeding area. In conclusion, the automated system has proven suitable for replacing visual recordings of tail bleedings in rats. Inter-observer differences can be eliminated, monotonous repetitive work avoided, and a higher through-put of animals in less time achieved. The automated system will lead to an increased understanding of the nature of bleeding following tail transection in different rodent models.

Studies on congenital hereditary cataract and microphthalmia of the miniature schnauzer dog.

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Shastry, B S; Reddy, V N

1994-09-30

Hereditary cataract in dogs occurs as an autosomal recessive trait. The opacity is primarily in the lens nucleus and posterior cortex. The affected animals also have other ocular abnormalities such as microphthalmia. To understand the genetic basis of this disorder, we have analyzed leukocyte DNA from affected and normal dogs for possible mutations in the homeobox containing gene and myotonic dystrophy locus. The results show that there are no signs of microdeletion, insertion, point mutation and rearrangements in these loci. Although these observations cannot completely rule out the possibility of point mutations, they suggest that the above loci are unlikely to be associated with the disease.

Management of acute gastric varices bleeding

Directory of Open Access Journals (Sweden)

Chen-Jung Chang

2013-10-01

Full Text Available Gastroesophageal varices bleeding is a major complication in patients with cirrhosis. Gastric varices (GVs occur in approximately 20% of patients with portal hypertension. However, GV bleeding develops in only 25% of patients with GV and requires more transfusion and has higher mortality than esophageal variceal (EV bleeding. The best strategy for managing acute GV bleeding is similar to that of acute EV bleeding, which involves airway protection, hemodynamic stabilization, and intensive care. Blood transfusion should be cautiously administered in order to avoid rebleeding. Vasoactive agents such as terlipressin or somatostatin should be used when GV bleeding is suspected. Routine use of prophylactic antibiotics reduces bacterial infection and lowers rebleeding rates. By administering endoscopic cyanoacrylate injection, the initial hemostasis rate achieved is at least 90% in most cases; the average mortality rate of GV bleeding is approximately 10–30% and the rebleeding rate is between 22% and 37%. Although endoscopic injection of cyanoacrylate is superior to sclerotherapy and band ligation, and has remained the treatment of choice for treating acute GV bleeding, the outcome of this treatment is still unsatisfactory. New treatment options, such as thrombin injection, transjugular intrahepatic portosystemic shunts, or balloon-occluded retrograde transvenous obliteration, have shown promising results for acute GV bleeding. However, randomized controlled trials are needed to compare the efficacy of these therapies with cyanoacrylate.

Visão atual da hemocromatose hereditária Current approach to hereditary hemochromatosis

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Rodolfo Delfini Cançado

2010-01-01

Full Text Available A hemocromatose hereditária (HH está relacionada a diversos distúrbios do metabolismo do ferro que ocasionam sua sobrecarga tecidual. A HH clássica está associada às mutações do gene HFE (homozigose para C282Y ou duplo heterozigose para C282Y/H63D, sendo encontrada quase exclusivamente em descendentes do norte Europeu. A hemocromatose hereditária, quando não relacionada ao gene HFE, é causada por mutações de outros genes, recentemente identificados, envolvidos no metabolismo do ferro. Hepcedina é o hormônio regulador do ferro que inibe a ferroportina, proteína exportadora de ferro dos enterócitos e dos macrófagos; um defeito na expressão do gene da hepcedina ou na sua função costuma ser a causa da maioria dos tipos de hemocromatose hereditária. Os alvos acometidos pela HH são órgãos e tecidos - fígado, coração, pâncreas, articulações e pele -, sendo a cirrose e o diabetes melito os sinais tardios da doença em pacientes com expressivo aumento da concentração hepática de ferro. Pacientes com diagnóstico estabelecido de hemocromatose hereditária e sobrecarga de ferro devem ser tratados com flebotomia para a obtenção de depleção do ferro do organismo; em seguida, com flebotomia de manutenção. As causas mais frequentes de morte por hemocromatose hereditária são câncer hepático, cirrose, miocardiopatia e diabete; entretanto, pacientes submetidos à depleção do ferro de maneira satisfatória e antes do desenvolvimento da cirrose ou da diabete podem ter sobrevida normal.Hereditary hemochromatosis refers to several inherited disorders of the iron metabolism that lead to tissue iron overload. Classical hereditary hemochromatosis is associated with mutations of the HFE gene (C282Y homozygotes or C282Y/H63D compound heterozygotes and is almost exclusively found in populations of northern European descent. Non-HFE-associated hereditary hemochromatosis is caused by mutations in other recently identified genes

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

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Guelly, Christian; Zhu, Peng-Peng; Leonardis, Lea; Papić, Lea; Zidar, Janez; Schabhüttl, Maria; Strohmaier, Heimo; Weis, Joachim; Strom, Tim M; Baets, Jonathan; Willems, Jan; De Jonghe, Peter; Reilly, Mary M; Fröhlich, Eleonore; Hatz, Martina; Trajanoski, Slave; Pieber, Thomas R; Janecke, Andreas R; Blackstone, Craig; Auer-Grumbach, Michaela

2011-01-07

Hereditary sensory neuropathy type I (HSN I) is an axonal form of autosomal-dominant hereditary motor and sensory neuropathy distinguished by prominent sensory loss that leads to painless injuries. Unrecognized, these can result in delayed wound healing and osteomyelitis, necessitating distal amputations. To elucidate the genetic basis of an HSN I subtype in a family in which mutations in the few known HSN I genes had been excluded, we employed massive parallel exon sequencing of the 14.3 Mb disease interval on chromosome 14q. We detected a missense mutation (c.1065C>A, p.Asn355Lys) in atlastin-1 (ATL1), a gene that is known to be mutated in early-onset hereditary spastic paraplegia SPG3A and that encodes the large dynamin-related GTPase atlastin-1. The mutant protein exhibited reduced GTPase activity and prominently disrupted ER network morphology when expressed in COS7 cells, strongly supporting pathogenicity. An expanded screen in 115 additional HSN I patients identified two further dominant ATL1 mutations (c.196G>C [p.Glu66Gln] and c.976 delG [p.Val326TrpfsX8]). This study highlights an unexpected major role for atlastin-1 in the function of sensory neurons and identifies HSN I and SPG3A as allelic disorders.

Nano- and micro-materials in the treatment of internal bleeding and uncontrolled hemorrhage.

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Gaston, Elizabeth; Fraser, John F; Xu, Zhi Ping; Ta, Hang T

2018-02-01

Internal bleeding is defined as the loss of blood that occurs inside of a body cavity. After a traumatic injury, hemorrhage accounts for over 35% of pre-hospital deaths and 40% of deaths within the first 24 hours. Coagulopathy, a disorder in which the blood is not able to properly form clots, typically develops after traumatic injury and results in a higher rate of mortality. The current methods to treat internal bleeding and coagulopathy are inadequate due to the requirement of extensive medical equipment that is typically not available at the site of injury. To discover a potential route for future research, several current and novel treatment methods have been reviewed and analyzed. The aim of investigating different potential treatment options is to expand available knowledge, while also call attention to the importance of research in the field of treatment for internal bleeding and hemorrhage due to trauma. Copyright © 2017 Elsevier Inc. All rights reserved.

Provocative Endoscopy to Identify Bleeding Site in Upper Gastrointestinal Bleeding: A Novel Approach in Transarterial Embolization.

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Kamo, Minobu; Fuwa, Sokun; Fukuda, Katsuyuki; Fujita, Yoshiyuki; Kurihara, Yasuyuki

2016-07-01

This report describes a novel approach to endoscopically induce bleeding by removing a clot from the bleeding site during angiography for upper gastrointestinal (UGI) hemorrhage. This procedure enabled accurate identification of the bleeding site, allowing for successful targeted embolization despite a negative initial angiogram. Provocative endoscopy may be a feasible and useful option for angiography of obscure bleeding sites in patients with UGI arterial hemorrhage. Copyright © 2016 SIR. Published by Elsevier Inc. All rights reserved.

Severe Bleeding: First Aid

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... 12, 2017. Jevon P, et al. Part 5 — First-aid treatment for severe bleeding. Nursing Times. 2008;104:26. Oct. 19, 2017 Original article: http://www.mayoclinic.org/first-aid/first-aid-severe-bleeding/basics/ART-20056661 . Mayo ...

Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature.

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Elhennawy, Karim; Reda, Seif; Finke, Christian; Graul-Neumann, Luitgard; Jost-Brinkmann, Paul-Georg; Bartzela, Theodosia

2017-08-15

Hereditary sensory and autonomic neuropathy type VIII is a rare autosomal recessive inherited disorder. Chen et al. recently identified the causative gene and characterized biallelic mutations in the PR domain-containing protein 12 gene, which plays a role in the development of pain-sensing nerve cells. Our patient's family was included in Chen and colleagues' study. We performed a literature review of the PubMed library (January 1985 to December 2016) on hereditary sensory and autonomic neuropathy type I to VIII genetic disorders and their orofacial manifestations. This case report is the first to describe the oral manifestations, and their treatment, of the recently discovered hereditary sensory and autonomic neuropathy type VIII in the medical and dental literature. We report on the oral manifestations and dental management of an 8-month-old white boy with hereditary sensory and autonomic neuropathy-VIII over a period of 16 years. Our patient was homozygous for a mutation of PR domain-containing protein 12 gene and was characterized by insensitivity to pain and thermal stimuli, self-mutilation behavior, reduced sweat and tear production, absence of corneal reflexes, and multiple skin and bone infections. Oral manifestations included premature loss of teeth, associated with dental traumata and self-mutilation, severe soft tissue injuries, dental caries and submucosal abscesses, hypomineralization of primary teeth, and mandibular osteomyelitis. The lack of scientific knowledge on hereditary sensory and autonomic neuropathy due to the rarity of the disease often results in a delay in diagnosis, which is of substantial importance for the prevention of many complications and symptoms. Interdisciplinary work of specialized medical and dental teams and development of a standardized treatment protocols are essential for the management of the disease. There are many knowledge gaps concerning the management of patients with hereditary sensory and autonomic neuropathy

Recurrent Bleeding After Perimesencephalic Hemorrhage.

Science.gov (United States)

Kauw, Frans; Velthuis, Birgitta K; Kizilates, Ufuk; van der Schaaf, Irene C; Rinkel, Gabriel J E; Vergouwen, Mervyn D I

2017-12-01

Perimesencephalic hemorrhage (PMH) is a type of subarachnoid hemorrhage with excellent long-term outcomes. Only 1 well-documented case of in-hospital rebleeding after PMH is described in the literature, which occurred after initiating antithrombotic treatment because of myocardial ischemia. We describe a patient with PMH without antithrombotic treatment who had 2 episodes of recurrent bleeding on the day of ictus. To validate the radiologic findings, we conducted a case-control study. Six neuroradiologists and 2 neuroradiology fellows performed a blinded assessment of serial unenhanced head computed tomography (CT) scans of 8 patients with a perimesencephalic bleeding pattern (1 index patient, 6 patients with PMH, 1 patient with perimesencephalic bleeding pattern and basilar artery aneurysm) to investigate a potential increase in amount of subarachnoid blood. A 56-year-old woman with a perimesencephalic bleeding pattern and negative CT angiography had 2 episodes after the onset headache with a sudden increase of the headache. Blinded assessment of serial head CT scans of 8 patients with a perimesencephalic bleeding pattern identified the patient who was clinically suspected to have 2 episodes of recurrent bleeding to have an increased amount of subarachnoid blood on 2 subsequent CT scans. Recurrent bleeding after PMH may also occur in patients not treated with antithrombotics. Even after early rebleeding, the prognosis of PMH is excellent. Copyright © 2017 Elsevier Inc. All rights reserved.

Review: Clinical aspects of hereditary DNA Mismatch repair gene mutations

NARCIS (Netherlands)

Sijmons, Rolf H.; Hofstra, Robert M. W.

Inherited mutations of the DNA Mismatch repair genes MLH1, MSH2, MSH6 and PMS2 can result in two hereditary tumor syndromes: the adult-onset autosomal dominant Lynch syndrome, previously referred to as Hereditary Non-Polyposis Colorectal Cancer (HNPCC) and the childhood-onset autosomal recessive

Comparison of detectable bleeding rates of radiopharmaceuticals for localization of gastrointestinal bleeding in sheep using a closed system

International Nuclear Information System (INIS)

Owunwanne, A.; Sadek, S.; Yacoub, T.; Awdeh, M.; Abdel-Dayem, H.M.; Al-Wafai, I.; Vallgren, S.

1989-01-01

The closed experimental animal model system was used to compare the detectable gastrointestinal (GI) bleeding rates of 99m Tc-DTPA, 99m Tc-RBCs and 99m Tc tin colloid in sheep. The three radiopharmaceuticals were used to detect the upper GI bleeding sites at rates of 0.57 and 0.25 ml/min. At the lower bleeding rate of 0.1 ml/min, both 99m Tc-DTPA and 99m Tc-RBCs were successful in detecting the bleeding site. At the lowest rate of 0.07 ml/min only 99m Tc-DTPA was successful in detecting the bleeding site. The results indicate that 99m Tc-DTPA is the most useful 99m Tc radiopharmaceutical for detecting the upper GI bleeding site at the slowest bleeding rate studied. (orig.) [de

[Antithrombotic therapy and nonvariceal upper gastrointestinal bleeding].

Science.gov (United States)

Belanová, Veronika; Gřiva, Martin

2015-12-01

The incidence of acute upper gastrointestinal bleeding is about 85-108/100,000 inhabitants per year, nonvariceal bleeding accounts for 80-90%. Antiplatelet and anticoagulation treatment are the significant risk factors for upper gastrointestinal bleeding. To evaluate the occurrence of upper gastrointestinal bleeding in the general community of patients in a county hospital. And to compare the role played by antiplatelet and anticoagulation drugs and other risk medication. Retrospective analysis of patients over 18 years of age who underwent endoscopy for acute upper gastrointestinal bleeding or anaemia (haemoglobinupper gastrointestinal tract during a hospital stay in 2013 (from January to June). We included 111 patients of average age 69±15 years, men 60%. Nonvariceal bleeding accounted for 90% of the cases. None of the patients with variceal bleeding (10% of patients) took antiplatelet or anticoagulation therapy. There were 100 patients with nonvariceal bleeding of average age 70±15, 61% men. With the symptoms of acute bleeding (hematemesis, melena) presented in 73% of patients. The most frequent cause of bleeding was gastric and duodenal ulcer (54%). 32% of patients with nonvariceal bleeding had antiplatelets, 19% anticoagulants and 10% used nonsteroidal anti-inflammatory drugs, selective serotonin reuptake inhibitors or corticosteroids. 30-days mortality of patients with nonvariceal bleeding was 11%, annual mortality was 23%. There was no significant difference in mortality, blood transfusion requirements or surgical intervention between the patients with antithrombotic agents and without them. 25% of patients (8 patients) using acetylsalicylic acid did not fulfil the indication for this treatment. Among the patients examined by endoscopy for symptomatic nonvariceal bleeding and/or anaemia (haemoglobingastrointestinal bleeding. With regard to that, it is alarming, that there still exists a nonnegligible percentage of patients taking acetylsalicylic acid even

[Consensus on clinical diagnosis, treatment and pedigree management of hereditary colorectal cancer in China].

Science.gov (United States)

2018-01-23

Hereditary colorectal cancer can be divded into two categories based on the presence or absence of polyps. The first category is characterized by the development of polyposis, which includes familial adenomatous polyposis (FAP); The second category is nonpolyposis colorectal cancer, which is represented by Lynch syndrome. "Consensus on clinical diagnosis, treatment and pedigree management of hereditary colorectal cancer in China" developed by the Genetics Group of the Committee of Colorectal Cancer, Chinese Anti-cancer Association, is composed of three sections, including hereditary nonpolyposis syndrome, polyposis syndrome as well as genetic evaluation of hereditary colorectal cancer. The consensus aims to provide recommendations on management of the respective hereditary syndromes in terms of definition, clinical and pathological features, diagnostic standards, treatment, and follow-ups. In addition to describing diagnostic and treatment strategies, prophylactic treatment as well as genetic screening and pedigree monitoring is highly recommended. Through the establishment of this expert consensus, we hope to promote better understanding of hereditary colorectal cancer for clinicians and encourage standardized treatment through multidisciplinery approaches, eventually improving clinical treatment and pedigree management of hereditary colorectal cancer in China.

Treatment of epistaxis in hereditary hemorrhagic telangiectasia with tranexamic acid - a double-blind placebo-controlled cross-over phase IIIB study.

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Geisthoff, Urban W; Seyfert, Ulrich T; Kübler, Marcus; Bieg, Birgitt; Plinkert, Peter K; König, Jochem

2014-09-01

Epistaxis is the most frequent manifestation in hereditary hemorrhagic telangiectasia, in which no optimal treatment exists. It can lead to severe anemia and reduced quality of life. Positive effects of tranexamic acid, an antifibrinolytic drug, have been reported on epistaxis related to this disorder. We sought to evaluate the efficacy of treating nosebleeds in hereditary hemorrhagic telangiectasia with tranexamic acid. In a randomized, double-blind, placebo controlled, cross-over phase IIIB study, 1 gram of tranexamic acid or placebo was given orally 3 times daily for 3 months for a total of 6 months. 22 patients were included in the intention-to-treat analysis. Hemoglobin levels, the primary outcome measure, did not change significantly (p=0.33). The secondary outcome measure was epistaxis score and patients reported a statistically significant reduction in nosebleeds, equaling a clinically relevant 54% diminution (p=0.0031), as compared to the placebo period. No severe side effects were observed. Tranexamic acid reduces epistaxis in patients with hereditary hemorrhagic telangiectasia. (Clinical trial registration numbers: BfArM 141 CHC 9008-001 and ClinicalTrials.gov NCT01031992). Copyright © 2014 Elsevier Ltd. All rights reserved.

Prospective analysis of delayed colorectal post-polypectomy bleeding.

Science.gov (United States)

Park, Soo-Kyung; Seo, Jeong Yeon; Lee, Min-Gu; Yang, Hyo-Joon; Jung, Yoon Suk; Choi, Kyu Yong; Kim, Hungdai; Kim, Hyung Ook; Jung, Kyung Uk; Chun, Ho-Kyung; Park, Dong Il

2018-01-17

Although post-polypectomy bleeding is the most frequent complication after colonoscopic polypectomy, only few studies have investigated the incidence of bleeding prospectively. The aim of this study was to investigate the incidence of delayed post-polypectomy bleeding and its associated risk factors prospectively. Patients who underwent colonoscopic polypectomy at Kangbuk Samsung Hospital from January 2013 to December 2014 were prospectively enrolled in this study. Trained nurses contacted patients via telephone 7 and 30 days after polypectomy and completed a standardized questionnaire regarding the development of bleeding. Delayed post-polypectomy bleeding was categorized as minor or major and early or late bleeding. Major delayed bleeding was defined as a > 2-g/dL drop in the hemoglobin level, requiring hospitalization for control of bleeding or blood transfusion; late delayed bleeding was defined as bleeding occurring later than 24 h after polypectomy. A total of 8175 colonoscopic polypectomies were performed in 3887 patients. Overall, 133 (3.4%) patients developed delayed post-polypectomy bleeding. Among them, 90 (2.3%) and 43 (1.1%) patients developed minor and major delayed bleeding, respectively, and 39 (1.0%) patients developed late delayed bleeding. In the polyp-based multivariate analysis, young age ( 10 mm (OR 2.45; 95% CI 1.38-4.36) were significant risk factors for major delayed bleeding, while young age (< 50 years; OR 2.6; 95% CI 1.35-5.12) and immediate bleeding (OR 3.3; 95% CI 1.49-7.30) were significant risk factors for late delayed bleeding. Young age, aspirin use, polyp size, and immediate bleeding were found to be independent risk factors for delayed post-polypectomy bleeding.

Hereditary hemochromatosis: An opportunity for gene therapy

Directory of Open Access Journals (Sweden)

FERNANDO EZQUER

2006-01-01

Full Text Available Levels of body iron should be tightly controlled to prevent the formation of oxygen radicals, lipoperoxidation, genotoxicity, and the production of cytotoxic cytokines, which result in damage to a number of organs. Enterocytes in the intestinal villae are involved in the apical uptake of iron from the intestinal lumen; iron is further exported from the cells into the circulation. The apical divalent metal transporter-1 (DMT1 transports ferrous iron from the lumen into the cells, while the basolateral transporter ferroportin extrudes iron from the enterocytes into the circulation. Patients with hereditary hemochromatosis display an accelerated transepithelial uptake of iron, which leads to body iron accumulation that results in cirrhosis, hepatocellular carcinoma, pancreatitis, and cardiomyopathy. Hereditary hemochromatosis, a recessive genetic condition, is the most prevalent genetic disease in Caucasians, with a prevalence of one in 300 subjects. The majority of patients with hereditary hemochromatosis display mutations in the gene coding for HFE, a protein that normally acts as an inhibitor of transepithelial iron transport. We discuss the different control points in the homeostasis of iron and the different mutations that exist in patients with hereditary hemochromatosis. These control sites may be influenced by gene therapeutic approaches; one general therapy for hemochromatosis of different etiologies is the inhibition of DMT1 synthesis by antisense-generating genes, which has been shown to markedly inhibit apical iron uptake by intestinal epithelial cells. We further discuss the most promising strategies to develop gene vectors and deliver them into enterocytes

Platelet Disorders: MedlinePlus Health Topic

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... Thromobocytopenia - drug-induced (Medical Encyclopedia) Also in Spanish Topic Image MedlinePlus Email Updates Get Platelet Disorders updates ... Willebrand disease Show More Show Less Related Health Topics Bleeding Disorders Blood Clots Blood Count Tests Blood ...

Cost-effectiveness of diagnostic strategies for the management of abnormal uterine bleeding (heavy menstrual bleeding and post-menopausal bleeding): a decision analysis

NARCIS (Netherlands)

Cooper, Natalie A. M.; Barton, Pelham M.; Breijer, Maria; Caffrey, Orla; Opmeer, Brent C.; Timmermans, Anne; Mol, Ben W. J.; Khan, Khalid S.; Clark, T. Justin

2014-01-01

Heavy menstrual bleeding (HMB) and post-menopausal bleeding (PMB) together constitute the commonest gynaecological presentation in secondary care and impose substantial demands on health service resources. Accurate diagnosis is of key importance to realising effective treatment, reducing morbidity

Tranexamic acid for epistaxis in hereditary hemorrhagic telangiectasia patients: a European cross-over controlled trial in a rare disease.

Science.gov (United States)

Gaillard, S; Dupuis-Girod, S; Boutitie, F; Rivière, S; Morinière, S; Hatron, P-Y; Manfredi, G; Kaminsky, P; Capitaine, A-L; Roy, P; Gueyffier, F; Plauchu, H

2014-09-01

Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder associated with abnormal angiogenesis and disabling epistaxis. Tranexamic acid (TA) has been widely used in the treatment of these severe bleeds but with no properly designed trial. To demonstrate the efficacy of TA in epistaxis in HHT patients and to explore its safety of use. A randomized, placebo-controlled, double-blind, cross-over trial was conducted. Participants were randomized to receive TA (3 g a day) then placebo or the opposite sequence. The main analysis compared intra-individual mean duration of epistaxis under TA vs. placebo on a log scale. The primary outcome was the mean duration of epistaxis per month, assessed with specific grids to be completed by participants. The number of epistaxis episodes was recorded as a secondary outcome. A total of 118 randomized patients contributed to the statistical analysis. The mean duration of epistaxis per month was significantly shorter with TA than placebo (0.19 on the log scale; SD = 0.07; P = 0.005), corresponding to a decrease of 17.3% (15.7 min) in the duration of epistaxis per month (CI 95%, 5.5-27.6). The median number of epistaxis episodes per month was 22.1 episodes in the placebo arm vs. 23.3 episodes in the TA arm. No thrombophlebitis was observed. In the ATERO study, we demonstrated a significant decrease in the duration of epistaxis in HHT patients taking TA. No safety issues were recorded in our cohort of patients. © 2014 International Society on Thrombosis and Haemostasis.

Genetics and ionizing radiations. 1. Genetics and hereditary diseases

International Nuclear Information System (INIS)

Dutrillaux, B.

1980-01-01

The desoxyribonucleic acid (DNA) is the chemical vehicle of heredity. Each hereditary character is determined by a short segment of the DNA molecule called gene. Gene operations are governed by regulating systems. The DNA is located in the chromosomes, easily analysed by light microscopy. The chromosome number and form are fairly characteristic of a species. Ours has 46 chromosomes, i.e. 23 pairs. Anomalies of the hereditary stock can be qualitative: affecting one gene they are expressed by diversely serious diseases. They can be quantitative and bear on the lack or excess of a chromosome or a segment of chromosome; most often, resulting diseases are very serious; Downs's syndrome is a well-known example. The various modes of transmission of these hereditary characters are analysed. The change of a chromosome or a gene from a normal to an abnormal form is called a mutation. It occurs scarcely, but the effects of mutations accumulate. At birth, nearly 10% of children should have one abnormal hereditary character at least, however most of these characters do not induce a true disease. Anomalies are more frequent at conception, many abnormal embryos or foetuses being aliminated by miscarriages [fr

Follow-up of Thalidomide treatment in patients with Hereditary Haemorrhagic Telangiectasia.

Science.gov (United States)

Hosman, A; Westermann, C J J; Snijder, R; Disch, F; Mummery, C L; Mager, J J

2015-12-01

Patients with a hereditary vascular disorder called Rendu-Osler-Weber syndrome (Hereditary Haemorrhagic Telangiectasia, HHT) haemorrhage easily due to weak-walled vessels. Haemorrhage in lungs or brain can be fatal but patients suffer most from chronic and prolonged nosebleeds (epistaxis), the frequency and intensity of which increases with age. Several years ago, it was discovered serendipitously that the drug Thalidomide had beneficial effects on the disease symptoms in several of a small group of HHT patients: epistaxis and the incidence of anaemia were reduced and patients required fewer blood transfusions. In addition, they reported a better quality of life. However, Thalidomide has significant negative side effects, including neuropathy and fatigue. We followed up all HHT patients in the Netherlands who had been taking Thalidomide at the time the original study was completed to find out (i) how many had continued taking Thalidomide and for how long (ii) the nature and severity of any side-effects and (iii) whether side-effects had influenced their decision to continue taking Thalidomide. Only a minority of patients had continued taking the drug despite its beneficial effects on their symptoms and that the side effects were the primary reason to stop. Despite symptom reduction, alternative treatments are still necessary for epistaxis in HHT patients and a large-scale clinical trial is not justified although incidental use in the most severely affected patients can be considered.

Comparison of detectable bleeding rates of radiopharmaceuticals for localization of gastrointestinal bleeding in sheep using a closed system

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Owunwanne, A.; Sadek, S.; Yacoub, T.; Awdeh, M.; Abdel-Dayem, H.M. (Kuwait Univ. (Kuwait). Dept. of Nuclear Medicine); Al-Wafai, I.; Vallgren, S. (Kuwait Univ. (Kuwait). Dept. of Surgery)

1989-06-01

The closed experimental animal model system was used to compare the detectable gastrointestinal (GI) bleeding rates of {sup 99m}Tc-DTPA, {sup 99m}Tc-RBCs and {sup 99m}Tc tin colloid in sheep. The three radiopharmaceuticals were used to detect the upper GI bleeding sites at rates of 0.57 and 0.25 ml/min. At the lower bleeding rate of 0.1 ml/min, both {sup 99m}Tc-DTPA and {sup 99m}Tc-RBCs were successful in detecting the bleeding site. At the lowest rate of 0.07 ml/min only {sup 99m}Tc-DTPA was successful in detecting the bleeding site. The results indicate that {sup 99m}Tc-DTPA is the most useful {sup 99m}Tc radiopharmaceutical for detecting the upper GI bleeding site at the slowest bleeding rate studied. (orig.).

Hereditary sensory and autonomic neuropathies: types II, III, and IV

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Axelrod Felicia B

2007-10-01

Full Text Available Abstract The hereditary sensory and autonomic neuropathies (HSAN encompass a number of inherited disorders that are associated with sensory dysfunction (depressed reflexes, altered pain and temperature perception and varying degrees of autonomic dysfunction (gastroesophageal reflux, postural hypotention, excessive sweating. Subsequent to the numerical classification of four distinct forms of HSAN that was proposed by Dyck and Ohta, additional entities continue to be described, so that identification and classification are ongoing. As a group, the HSAN are rare diseases that affect both sexes. HSAN III is almost exclusive to individuals of Eastern European Jewish extraction, with incidence of 1 per 3600 live births. Several hundred cases with HSAN IV have been reported. The worldwide prevalence of HSAN type II is very low. This review focuses on the description of three of the disorders, HSAN II through IV, that are characterized by autosomal recessive inheritance and onset at birth. These three forms of HSAN have been the most intensively studied, especially familial dysautonomia (Riley-Day syndrome or HSAN III, which is often used as a prototype for comparison to the other HSAN. Each HSAN disorder is likely caused by different genetic errors that affect specific aspects of small fiber neurodevelopment, which result in variable phenotypic expression. As genetic tests are routinely used for diagnostic confirmation of HSAN III only, other means of differentiating between the disorders is necessary. Diagnosis is based on the clinical features, the degree of both sensory and autonomic dysfunction, and biochemical evaluations, with pathologic examinations serving to further confirm differences. Treatments for all these disorders are supportive.

Bleeding rates necessary for detecting acute gastrointestinal bleeding with technetium-99m-labeled red blood cells in an experimental model

International Nuclear Information System (INIS)

Thorne, D.A.; Datz, F.L.; Remley, K.; Christian, P.E.

1987-01-01

Proponents of [/sup 99m/Tc]sulfur colloid for GI bleeding studies argue that, although labeled red blood cells are useful for intermittent bleeding, they are not capable of detecting low bleeding rates. Studies of dogs with experimental GI bleeding have indicated bleeding rates of 0.05 ml/min can be detected with [/sup 99m/Tc]sulfur colloid. Since similar data in the dog model were unavailable for /sup 99m/Tc-labeled red blood cells, we undertook this study. To simulate lower GI bleeding, catheters were inserted into the bowel lumen. Each dog's blood was labeled with /sup 99m/Tc using an in vitro technique. Venous blood was then withdrawn and re-infused into the lumen of the bowel using a Harvard pump. Fourteen dogs were studied, ten receiving a bleeding rate from 4.6-0.02 ml/min in the descending colon and four with proximal jejunal bleeds of 0.20-0.02 ml/min. Bleeding rates of 4.6-0.2 ml/min were detected within 10 min in the colon and bleeding rates as low as 0.04 ml/min were seen by 55 min. Slower bleeding rates were not detected. Similar findings were noted for proximal jejunal bleeds. Based on the time of appearance, a minimum volume of approximately 2-3 ml labeled blood was necessary to detect bleeding. We conclude that /sup 99m/Tc-labeled RBCs are sensitive for low bleeding rates in the dog model. The rates are comparable to those described for [/sup 99m/Tc]sulfur colloid in this experimental setting. The time of appearance of activity is related to the bleeding rate

Hereditary spastic paraplegia with cerebellar ataxia

DEFF Research Database (Denmark)

Nielsen, J E; Johnsen, B; Koefoed, P

2004-01-01

Complex forms of hereditary spastic paraplegia (HSP) are rare and usually transmitted in an autosomal recessive pattern. A family of four generations with autosomal dominant hereditary spastic paraplegia (AD-HSP) and a complex phenotype with variably expressed co-existing ataxia, dysarthria......, unipolar depression, epilepsy, migraine, and cognitive impairment was investigated. Genetic linkage analysis and sequencing of the SPG4 gene was performed and electrophysiologic investigations were carried out in six individuals and positron emission tomography (PET) in one patient. The disease was linked...... in those individuals who were clinically affected by a complex phenotype consisting of HSP and cerebellar ataxia. Other features noted in this kindred including epilepsy, cognitive impairment, depression, and migraine did not segregate with the HSP phenotype or mutation, and therefore the significance...

Hereditary myopathies with early respiratory insufficiency in adults.

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Naddaf, Elie; Milone, Margherita

2017-11-01

Hereditary myopathies with early respiratory insufficiency as a predominant feature of the clinical phenotype are uncommon and underestimated in adults. We reviewed the clinical and laboratory data of patients with hereditary myopathies who demonstrated early respiratory insufficiency before the need for ambulatory assistance. Only patients with disease-causing mutations or a specific histopathological diagnosis were included. Patients with cardiomyopathy were excluded. We identified 22 patients; half had isolated respiratory symptoms at onset. The diagnosis of the myopathy was often delayed, resulting in delayed ventilatory support. The most common myopathies were adult-onset Pompe disease, myofibrillar myopathy, multi-minicore disease, and myotonic dystrophy type 1. Single cases of laminopathy, MELAS (mitochondrial encephalomyopathy with lactic acidosis and strokelike events), centronuclear myopathy, and cytoplasmic body myopathy were identified. We highlighted the most common hereditary myopathies associated with early respiratory insufficiency as the predominant clinical feature, and underscored the importance of a timely diagnosis for patient care. Muscle Nerve 56: 881-886, 2017. © 2017 Wiley Periodicals, Inc.

Management of Venous Thromboembolism in Patients with Hereditary Antithrombin Deficiency and Pregnancy: Case Report and Review of the Literature

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Mohammad Refaei

2017-01-01

Full Text Available Background. Hereditary antithrombin deficiency is a thrombogenic disorder associated with a 50–90% lifetime risk of venous thromboembolism (VTE, which is increased during pregnancy and the puerperium in these patients. We present a case of a woman with antithrombin (AT deficiency who presented with a VTE despite therapeutic low molecular weight heparin (LMWH. Though the pregnancy was deemed unviable, further maternal complications were mitigated through the combined use of therapeutic anticoagulation and plasma-derived antithrombin concentrate infusions to normalize her functional antithrombin levels. Methods. A review of the literature was conducted for studies on prophylaxis and management of VTE in pregnant patients with hereditary AT deficiency. The search involved a number of electronic databases, using combinations of keywords as described in the text. Only English language studies between 1946 and 2015 were included. Conclusion. Antithrombin concentrate is indicated in pregnant women with hereditary AT deficiency who develop VTE despite being on therapeutic dose anticoagulation. Expert opinion suggests AT concentrate should be used concomitantly with therapeutic dose anticoagulation. However, further high-quality studies on the dose and duration of treatment in the postpartum period are required. Use of AT concentrate for prophylaxis is controversial and should be based on individual VTE risk stratification.

Postpartum bleeding: efficacy of endovascular management

International Nuclear Information System (INIS)

Lee, Sun Young; Ko, Gi Young; Song, Ho Young; Gwon, Dong Il; Sung, Kyu Bo; Yoon, Hyun Ki

2003-01-01

To assess the effectiveness and safety of transcatheter arterial embolization for the treatment of massive postpartum bleeding. Transcatheter arterial embolization was attempted in 25 patients with massive postpartum bleeding. After identification at bilateral internal iliac arteriography, the bleeding artery was embolized using gelfoam, polyvinyl alcohol particles or microcoils, and to prevent rebleeding through collateral pathways, the contralateral uterine artery or anterior division of the internal iliac artery was also embolized. Clinical success and complications were retrospectively assessed and documented. Active bleeding foci were detected in 13 patients (52%), and involved the unilateral (n=10) or bilateral (n=2) uterine artery and unilateral vaginal artery (n=1). Twelve (92%) of the 13 patients recovered completely following embolization, but one underwent hysterectomy due to persistent bleeding. The focus of bleeding was not detected in 12 patients (48%), but 11 (92%) of these also recovered following embolization of the bilateral uterine or internal iliac arteries. One patient, however, died due to sepsis. Two of the 12 patients underwent hysterectomy due ro rebleeding on the 12 th and 13 th day, respectively, after embolization. Transcatheter arterial embolization is relatively safe and effective for the treatment massive postpartum bleeding

Postpartum bleeding: efficacy of endovascular management

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Lee, Sun Young; Ko, Gi Young; Song, Ho Young; Gwon, Dong Il; Sung, Kyu Bo; Yoon, Hyun Ki [Asan Medical Center, Seoul (Korea, Republic of)

2003-06-01

To assess the effectiveness and safety of transcatheter arterial embolization for the treatment of massive postpartum bleeding. Transcatheter arterial embolization was attempted in 25 patients with massive postpartum bleeding. After identification at bilateral internal iliac arteriography, the bleeding artery was embolized using gelfoam, polyvinyl alcohol particles or microcoils, and to prevent rebleeding through collateral pathways, the contralateral uterine artery or anterior division of the internal iliac artery was also embolized. Clinical success and complications were retrospectively assessed and documented. Active bleeding foci were detected in 13 patients (52%), and involved the unilateral (n=10) or bilateral (n=2) uterine artery and unilateral vaginal artery (n=1). Twelve (92%) of the 13 patients recovered completely following embolization, but one underwent hysterectomy due to persistent bleeding. The focus of bleeding was not detected in 12 patients (48%), but 11 (92%) of these also recovered following embolization of the bilateral uterine or internal iliac arteries. One patient, however, died due to sepsis. Two of the 12 patients underwent hysterectomy due ro rebleeding on the 12{sup th} and 13{sup th} day, respectively, after embolization. Transcatheter arterial embolization is relatively safe and effective for the treatment massive postpartum bleeding.

Hereditary Transthyretin Amyloidosis in Eight Chinese Families

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Ling-Chao Meng

2015-01-01

Full Text Available Background: Mutations of transthyretin (TTR cause the most common type of autosomal-dominant hereditary systemic amyloidosis, which occurs worldwide. To date, more and more mutations in the TTR gene have been reported. Some variations in the clinical presentation are often observed in patients with the same mutation or the patients in the same family. The purpose of this study was to find out the clinicopathologic and genetic features of Chinese patients with hereditary TTR amyloidosis. Methods: Clinical and necessary examination materials were collected from nine patients of eight families with hereditary TTR amyloidosis at Peking University First Hospital from January 2007 to November 2014. Sural nerve biopsies were taken for eight patients and skin biopsies were taken in the calf/upper arm for two patients, for light and electron microscopy examination. The TTR genes from the nine patients were analyzed. Results: The onset age varied from 23 to 68 years. The main manifestations were paresthesia, proximal and/or distal weakness, autonomic dysfunction, cardiomyopathy, vitreous opacity, hearing loss, and glossohypertrophia. Nerve biopsy demonstrated severe loss of myelinated fibers in seven cases and amyloid deposits in three. One patient had skin amyloid deposits which were revealed from electron microscopic examination. Genetic analysis showed six kinds of mutations of TTR gene, including Val30Met, Phe33Leu, Ala36Pro, Val30Ala, Phe33Val, and Glu42Gly in exon 2. Conclusions: Since the pathological examinations of sural nerve were negative for amyloid deposition in most patients, the screening for TTR mutations should be performed in all the adult patients, who are clinically suspected with hereditary TTR amyloidosis.

Advances and challenges in hereditary cancer pharmacogenetics.

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Cascorbi, Ingolf; Werk, Anneke Nina

2017-01-01

Cancer pharmacogenetics usually considers tumor-specific targets. However, hereditary genetic variants may interfere with the pharmacokinetics of antimetabolites and other anti-cancer drugs, which may lead to severe adverse events. Areas covered: Here, the impact of hereditary genes considered in drug labels such as thiopurine S-methyltransferase (TPMT), UDP-glucuronosyltransferase 1A1 (UTG1A1) and dihydropyrimidine dehydrogenase (DPYD) are discussed with respect to guidelines of the Clinical Pharmacogenetics Implementation Consortium (CPIC). Moreover, the association between genetic variants of drug transporters with the clinical outcome is comprehensively discussed. Expert opinion: Precision therapy in the field of oncology is developing tremendously. There are a number of somatic tumor genetic markers that are indicative for treatment with anti-cancer drugs. By contrast, for some hereditary variants, recommendations have been developed. Although we have vast knowledge on the association between drug transporter variants and clinical outcome, the overall data is inconsistent and the predictability of the related phenotype is low. Further developments in research may lead to the discovery of rare, but functionally relevant single nucleotide polymorphisms and a better understanding of multiple genomic, epigenomic as well as phenotypic factors, contributing to drug response in malignancies.

Hereditary sensory and autosomal peripheral neuropathy-type IV: case series and review of literature.

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Ashwin, D P; Chandan, G D; Jasleen, Handa Kaur; Rajkumar, G C; Rudresh, K B; Prashanth, R

2015-06-01

Hereditary sensory and autonomic neuropathy (HSAN) IV is a rare autosomal recessive disorder which is characterized by a decrease in the number of myelinated and non-myelinated nerve fibers of peripheral nerves which causes diminished or absent pain sensation leading to increase in self-mutilative habits. A retrospective study of eight cases ranging from age group of 4 to 17 years for oral and digital signs and symptoms is presented. All the patients showed congenital insensitivity to pain and anhidrosis. Oral self-mutilations, such as autoextraction of teeth and severe bite injuries (with resultant scarring) of the finger tips and oral soft tissues (tongue, lip, and buccal mucosa) were found in most patients. Our study suggests that early diagnosis and specific treatment plan are important for prevention of characteristic of the oral as well as digital trauma associated with this disorder.

Painless Urethral Bleeding During Penile Erection in an Adult Man With Klippel-Trenaunay Syndrome: A Case Report.

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Lei, Hongen; Guan, Xing; Han, Hu; Qian, Xiaosong; Zhou, Xiaoguang; Zhang, Xiaodong; Tian, Long

2018-06-01

Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder characterized by a triad of cutaneous port wine capillary malformations, varicose veins, and hemihypertrophy of bone and soft tissues. To report on a rare case of KTS in an adult man manifested by painless urethral bleeding during penile erection briefly review the clinical presentation and management of the genitourinary forms of this syndrome. On presentation, the clinical features of this patient, including medical history, signs and symptoms, and imaging examinations, were recorded. After diagnosis and initial treatment, a literature review of the urethral features of KTS was performed and is discussed in this report. A 35-year-old man with KTS presented with painless urethral bleeding during penile erection that was associated with posterior urethral vascular malformations. The coagulation method was used to treat the malformation, and no urethral bleeding or gross hematuria occurred during a postoperative follow-up period of 6 months. This case demonstrates that coagulation therapy and careful follow-up can be adequate treatment approaches for urethral features of KTS. However, the long-term efficacy of coagulation for this disorder should be investigated further. Lei H, Guan X, Han H, et al. Painless Urethral Bleeding During Penile Erection in an Adult Man With Klippel-Trenaunay Syndrome: A Case Report. Sex Med 2018;6:180-183. Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.

Living with hereditary haemorrhagic telangiectasia: coping and psychological distress - a cross-sectional study.

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Geirdal, Amy Østertun; Dheyauldeen, Sinan; Bachmann-Harildstad, Gregor; Heimdal, Ketil

2013-02-01

The purpose of this study was to examine the relationship between coping strategies measured by Coping Orientation to Problems Experienced Scale (COPE) and psychological distress measured by Hospital Anxiety and Depression Scale (HADS) and Becks Hopelessness Scale (BHS) in individuals living with Hereditary hemorrhagic telangiectasia (HHT) and to examine if coping strategies might have a mediating role between experienced illness and psychological distress. HHT is mainly caused by mutations in the ENG- or ALK1-genes and associated with a shorter life span. 90% of patients have recurrent nosebleeds. 66 individuals affected of HHT participated in this cross-sectional study, completing questions due to demographic variables, Experience of illness, COPE, BHS and HADS. X(2) test, bivariate correlations with Pearson r and hierarchical multiple regression were used using PASW 18. Experience of illness made the highest variance in anxiety, depression and hopelessness and the coping strategy "behavioral disengagement" seems to have a mediating role between nose bleedings, being afraid of complications, satisfied with life and psychological distress. Experience of illness is of big importance in psychological distress in individuals affected of HHT, and behavioral disengagement explained the actual relationship between experience of illness and psychological distress.

Hereditary epidermolysis bullosa. Dental management of three cases.

Science.gov (United States)

Serrano Martínez, C; Silvestre Donat, F J; Bagán Sebastián, J V; Peñarrocha Diago, M; Alió Sanz, J J

2001-01-01

Hereditary epidermolysis bullosa (EB) is a mucocutaneous disorder characterized by the appearance of blisters and vesicles in response to minimum friction. The digestive mucosa is one of the most frequently affected regions--including the oral mucosa. Three types of EB have been established according to the histological level of the lesion. Thus, simple EB involves intraepidermal bullae that leave no scars, while junctional EB exhibit blisters between the lamina lucida and lamina densa of the basal membrane. These lesions heal leaving atrophy and involve important hypoplastic lesions in the dental enamel. In turn, dystrophic EB presents synechiae-forming subepidermal blisters--the recessive form being the variant involving the greatest oral lesions (microstomia, ankyloglossia, milium cysts and rampant caries). Three cases of EB are presented and their clinical-dental management difficulties are described. The oral manifestations are described, along with the dental treatments provided and the evolution of the periodontal indices over a two-year period following the application of hygiene-preventive and therapeutic measures.

Clinical features and management of hereditary spastic paraplegia

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Ingrid Faber

2014-03-01

Full Text Available Hereditary spastic paraplegia (HSP is a group of genetically-determined disorders characterized by progressive spasticity and weakness of lower limbs. An apparently sporadic case of adult-onset spastic paraplegia is a frequent clinical problem and a significant proportion of cases are likely to be of genetic origin. HSP is clinically divided into pure and complicated forms. The later present with a wide range of additional neurological and systemic features. To date, there are up to 60 genetic subtypes described. All modes of monogenic inheritance have been described: autosomal dominant, autosomal recessive, X-linked and mitochondrial traits. Recent advances point to abnormal axonal transport as a key mechanism leading to the degeneration of the long motor neuron axons in the central nervous system in HSP. In this review we aim to address recent advances in the field, placing emphasis on key diagnostic features that will help practicing neurologists to identify and manage these conditions.

Sepsis and siderosis, Yersinia enterocolitica and hereditary haemochromatosis.

Science.gov (United States)

Thwaites, Phoebe A; Woods, Marion L

2017-01-04

A 60-year-old woman was admitted with sepsis, relative bradycardia, CT evidence of numerous small liver abscesses and 'skin bronzing' consistent with hereditary haemochromatosis (HH). Yersinia enterocolitica O:9 infection was confirmed by serology specimens taken 10 days apart. Iron overload was detected, and homozygous C282Y gene mutation confirmed HH. Liver biopsy revealed grade IV siderosis with micronodular cirrhosis. Haemochromatosis is a common, inherited disorder leading to iron overload that can produce end-organ damage from excess iron deposition. Haemochromatosis diagnosis allowed aggressive medical management with phlebotomy achieving normalisation of iron stores. Screening for complications of cirrhosis was started that included hepatoma surveillance. Iron overload states are known to increase patient susceptibility to infections caused by lower virulence bacteria lacking sophisticated iron metabolism pathways, for example, Yersinia enterocolitica Although these serious disseminated infections are rare, they may serve as markers for occult iron overload and should prompt haemochromatosis screening. 2017 BMJ Publishing Group Ltd.

Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy.

Science.gov (United States)

Topakian, Raffi; Wimmer, Sibylle; Pischinger, Barbara; Pichler, Robert

2014-10-17

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant disorder associated with recurrent mononeuropathies following compression or trivial trauma. Reports on sciatic neuropathy as the presenting manifestation of HNPP are very scarce. We report on a 21-year-old previously healthy man who was admitted with sensorimotor deficits in his left leg. He had no history of preceding transient episodes of weakness or sensory loss. Clinical and electrophysiological examinations were consistent with sciatic neuropathy. Cerebrospinal fluid investigation and MRI of the nerve roots, plexus, and sciatic nerve did not indicate the underlying aetiology. When extended electrophysiological tests revealed multiple subclinical compression neuropathies in the upper limbs, HNPP was contemplated and eventually confirmed by genetic testing. 2014 BMJ Publishing Group Ltd.

Upper gastrointestinal bleeding in patients with CKD.

Science.gov (United States)

Liang, Chih-Chia; Wang, Su-Ming; Kuo, Huey-Liang; Chang, Chiz-Tzung; Liu, Jiung-Hsiun; Lin, Hsin-Hung; Wang, I-Kuan; Yang, Ya-Fei; Lu, Yueh-Ju; Chou, Che-Yi; Huang, Chiu-Ching

2014-08-07

Patients with CKD receiving maintenance dialysis are at risk for upper gastrointestinal bleeding. However, the risk of upper gastrointestinal bleeding in patients with early CKD who are not receiving dialysis is unknown. The hypothesis was that their risk of upper gastrointestinal bleeding is negatively linked to renal function. To test this hypothesis, the association between eGFR and risk of upper gastrointestinal bleeding in patients with stages 3-5 CKD who were not receiving dialysis was analyzed. Patients with stages 3-5 CKD in the CKD program from 2003 to 2009 were enrolled and prospectively followed until December of 2012 to monitor the development of upper gastrointestinal bleeding. The risk of upper gastrointestinal bleeding was analyzed using competing-risks regression with time-varying covariates. In total, 2968 patients with stages 3-5 CKD who were not receiving dialysis were followed for a median of 1.9 years. The incidence of upper gastrointestinal bleeding per 100 patient-years was 3.7 (95% confidence interval, 3.5 to 3.9) in patients with stage 3 CKD, 5.0 (95% confidence interval, 4.8 to 5.3) in patients with stage 4 CKD, and 13.9 (95% confidence interval, 13.1 to 14.8) in patients with stage 5 CKD. Higher eGFR was associated with a lower risk of upper gastrointestinal bleeding (P=0.03), with a subdistribution hazard ratio of 0.93 (95% confidence interval, 0.87 to 0.99) for every 5 ml/min per 1.73 m(2) higher eGFR. A history of upper gastrointestinal bleeding (Pupper gastrointestinal bleeding risk. In patients with CKD who are not receiving dialysis, lower renal function is associated with higher risk for upper gastrointestinal bleeding. The risk is higher in patients with previous upper gastrointestinal bleeding history and low serum albumin. Copyright © 2014 by the American Society of Nephrology.

Familial cosegregation of manic-depressive illness and a form of hereditary cerebellar ataxia

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Piqueras, J.F.; Santos, J.; Puertollano, R. [Universidad Autonoma, Madrid (Spain)] [and others

1995-06-19

We report on a Spanish family with co-occurrence of manic-depression and a form of hereditary cerebellar ataxia. All affected individuals in the second generation showed cerebellar ataxia and manic-depression simultaneously. Since anticipation has been described in both disorders and the pattern of segregation may be autosomal as well as X-linked, we have searched for a possible involvement of two candidate genes which are located either on an autosome (SCA1) or on the X-chromosome (GABRA3). We concluded that expansion of trinucleotide repeats at SCA1 gene cannot be considered as a disease-causing mutation, and this gene should be initially discarded. 19 refs., 3 figs.

RECOMBINANT FACTOR VIIa – NEW TREATMENT OPTION FOR CONTROL OF INTRACTABLE BLEEDING IN SURGICAL AND TRAUMA PATIENTS AND IN OTHER HAEMOSTASIS DISORDERS

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Samo Zver

2004-12-01

Full Text Available Background. Recombinant factor VIIa (rFVIIa, which is currently registered only for the treatment of haemophilia A and B patients with inhibitors, is seen increasingly as a possible universal haemostatic agent in untractable bleedings. One possible mechanism for the efficacy rFVIIa may be a consequence of it’s from the tissue factor (TF and from the level of disfunction in haemostatic system independant activity, which generates »thrombin burst« formation. It seems that rFVIIa remains active only at the site of tissue injury/bleeding.Conclusions. There are two components of bleeding in surgery and trauma patients. One is bleeding from large calibre arteries and veins which requires surgical intervention. The other, which goes along with the first one, is coagulopathic bleeding. The latter is a consequence of consumptional and dilutional coagulopathy, hypothermia, multitransfusion syndrom and metabolic disbalances in patients. rFVIIa effects coagulopathic component of the bleeding. For effective treatment with rFVIIa in such patients, replacement therapy with erythrocytes, platelets and fresh frozen plasma is mandatory and requires a haematologist assistance in the treatment strategy.Most reported cases of effective rFVIIa usage are from the field of traumatology. Until now, there have been no universal recommendations when to start treatment with rFVIIa in a bleeding trauma patient. Most experience with rFVIIa are from Israel and their recommendations are perhaps the most valuable ones. rFVIIa was used several times during intra-operative and post-operative bleeding episodes. There are reports of clinical studies and usage in patients with/ after prostate surgery, cardiovascular operations and liver transplants.There are data about effective rFVIIa usage in neurology and neurosurgery patients (intracranial haemorrhages, obstetrics and gynecology field. Possible future indications are thrombocytopenias, thrombocytopathias (Glanzmann

The usefulness of MDCT in acute intestinal bleeding

International Nuclear Information System (INIS)

Kim, Kum Rae; Park, Won Kyu; Kim, Jae Woon; Chang, Jay Chun; Jang, Han Won

2006-01-01

We wanted to evaluate the usefulness of MDCT for localizing a bleeding site and for helping make a decision on further management for acute intestinal bleeding. We conducted a retrospective review of 17 consecutive patients who presented with acute intestinal bleeding and who also underwent MDCT before angiography or surgery. The sensitivity of MDCT for detecting acute intestinal bleeding was assessed and compared with that of conventional angiography. The sensitivity of MDCT for the detection of acute intestinal bleeding was 77% (13 or 17), whereas that of angiography was 46% (6 or 13). All the bleeding points that were subsequently detected on angiography were visualized on MDCT. In three cases, the bleeding focus was detected on MDCT and not on angiography. In four cases, both MDCT and angiography did not detect the bleeding focus; for one of these cases, CT during SMA angiography was performed and this detected the active bleeding site. In patients with acute intestinal bleeding, MDCT is a useful image modality to detect the bleeding site and to help decide on further management before performing angiography or surgery. When tumorous lesions are detected, invasive angiography can be omitted

Early lactate clearance for predicting active bleeding in critically ill patients with acute upper gastrointestinal bleeding: a retrospective study.

Science.gov (United States)

Wada, Tomoki; Hagiwara, Akiyoshi; Uemura, Tatsuki; Yahagi, Naoki; Kimura, Akio

2016-08-01

Not all patients with upper gastrointestinal bleeding (UGIB) require emergency endoscopy. Lactate clearance has been suggested as a parameter for predicting patient outcomes in various critical care settings. This study investigates whether lactate clearance can predict active bleeding in critically ill patients with UGIB. This single-center, retrospective, observational study included critically ill patients with UGIB who met all of the following criteria: admission to the emergency department (ED) from April 2011 to August 2014; had blood samples for lactate evaluation at least twice during the ED stay; and had emergency endoscopy within 6 h of ED presentation. The main outcome was active bleeding detected with emergency endoscopy. Classification and regression tree (CART) analyses were performed using variables associated with active bleeding to derive a prediction rule for active bleeding in critically ill UGIB patients. A total of 154 patients with UGIB were analyzed, and 31.2 % (48/154) had active bleeding. In the univariate analysis, lactate clearance was significantly lower in patients with active bleeding than in those without active bleeding (13 vs. 29 %, P bleeding is derived, and includes three variables: lactate clearance; platelet count; and systolic blood pressure at ED presentation. The rule has 97.9 % (95 % CI 90.2-99.6 %) sensitivity with 32.1 % (28.6-32.9 %) specificity. Lactate clearance may be associated with active bleeding in critically ill patients with UGIB, and may be clinically useful as a component of a prediction rule for active bleeding.

Genetics Home Reference: hereditary hypophosphatemic rickets

Science.gov (United States)

... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... families, hereditary hypophosphatemic rickets has had an autosomal dominant inheritance pattern, which means one copy of an ...

Hereditary History Preserving Bisimilarity Is Undecidable

DEFF Research Database (Denmark)

Jurdzinski, Marcin; Nielsen, Mogens

2000-01-01

History preserving bisimilarity (hp-bisimilarity) and hereditary history preserving bisimilarity (hhp-bisimilarity) are behavioural equivalences taking into account causal relationships between events of concurrent systems. Their prominent feature is being preserved under action refinement...

New forms of -compactness with respect to hereditary classes

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Abdo Mohammed Qahis

2019-01-01

Full Text Available A hereditary class on a set X is a nonempty collection of subsets closed under heredity. The aim of this paper is to introduce and study strong forms of u-compactness in generalized topological spaces with respect to a hereditary class, called  SuH-compactness and S- SuH-compactness. Also several of their properties are presented. Finally some eects of various kinds of functions on them are studied.

Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China.

Science.gov (United States)

Gan, Dekang; Li, Mengwei; Wu, Jihong; Sun, Xinghuai; Tian, Guohong

2017-01-01

To evaluate the clinical classification and characteristics of hereditary optic neuropathy patients in a single center in China. Retrospective case study. Patients diagnosed with hereditary optic neuropathy between January 2014 and December 2015 in the neuro-ophthalmology division in Shanghai Eye and ENT Hospital of Fudan University were recruited. Clinical features as well as visual field, brain/orbital MRI, and spectrum domain optical coherence tomography (SD-OCT) were analyzed. Eighty-two patients diagnosed by gene test were evaluated, including 66 males and 16 females. The mean age of the patients was 19.4 years (range, 5-46 years). A total of 158 eyes were analyzed, including 6 unilateral, 61 bilateral, and 15 sequential. The median duration of the disease was 0.5 year (range, 0.1-20 years). Genetic test identified 68 patients with Leber hereditary optic neuropathy, 9 with dominant optic neuropathy, and 2 with a Wolfram gene mutation. There was also one case of hereditary spastic paraplegia, spinocerebellar ataxia, and polymicrogyria with optic nerve atrophy, respectively. Leber hereditary optic neuropathy is the most common detected type of hereditary optic neuropathy in Shanghai, China. The detection of other autosomal mutations in hereditary optic neuropathy is limited by the currently available technique.

The role of endoscopy in pediatric gastrointestinal bleeding

Science.gov (United States)

Franke, Markus; Geiß, Andrea; Greiner, Peter; Wellner, Ulrich; Richter-Schrag, Hans-Jürgen; Bausch, Dirk; Fischer, Andreas

2016-01-01

Background and study aims: Gastrointestinal bleeding in children and adolescents accounts for up to 20 % of referrals to gastroenterologists. Detailed management guidelines exist for gastrointestinal bleeding in adults, but they do not encompass children and adolescents. The aim of this study was to assess gastrointestinal bleeding in pediatric patients and to determine an investigative management algorithm accounting for the specifics of children and adolescents. Patients and methods: Pediatric patients with gastrointestinal bleeding admitted to our endoscopy unit from 2001 to 2009 (n = 154) were identified. Retrospective statistical and neural network analysis was used to assess outcome and to determine an investigative management algorithm. Results: The source of bleeding could be identified in 81 % (n = 124/154). Gastrointestinal bleeding was predominantly lower gastrointestinal bleeding (66 %, n = 101); upper gastrointestinal bleeding was much less common (14 %, n = 21). Hematochezia was observed in 94 % of the patients with lower gastrointestinal bleeding (n = 95 of 101). Hematemesis (67 %, n = 14 of 21) and melena (48 %, n = 10 of 21) were associated with upper gastrointestinal bleeding. The sensitivity and specificity of a neural network to predict lower gastrointestinal bleeding were 98 % and 63.6 %, respectively and to predict upper gastrointestinal bleeding were 75 % and 96 % respectively. The sensitivity and specifity of hematochezia alone to predict lower gastrointestinal bleeding were 94.2 % and 85.7 %, respectively. The sensitivity and specificity for hematemesis and melena to predict upper gastrointestinal bleeding were 82.6 % and 94 %, respectively. We then developed an investigative management algorithm based on the presence of hematochezia and hematemesis or melena. Conclusions: Hematochezia should prompt colonoscopy and hematemesis or melena should prompt esophagogastroduodenoscopy. If no

Endoscopic management of bleeding peptic ulcers

International Nuclear Information System (INIS)

Farooqi, J.I.; Farooqi, R.J.

2001-01-01

Peptic ulcers account for more than half of the cases of non variceal upper gastrointestinal (GI) bleeding and therefore, are the focus of most of the methods of endoscopic hemostasis. Surgical intervention is now largely reserved for patients in whom endoscopic hemostasis has failed. A variety of endoscopic techniques have been employed to stop bleeding and reduce the risk of rebleeding, with no major differences in outcome between these methods. These include injection therapy, fibrin injection, heater probe, mono polar electrocautery, bipolar electrocautery, lasers and mechanical hemo clipping. The most important factor in determining outcome after gastrointestinal bleeding is rebleeding or persistent bleeding. The endoscopic appearance of an ulcer, however, provides the most useful prognostic information for bleeding. Recurrent bleeding after initial endoscopic hemostasis occurs in 15-20% of patients with a bleeding peptic ulcer. The best approach to these patients remains controversial; the current options are repeat endoscopic therapy with the same or a different technique, emergency surgery or semi elective surgery after repeat endoscopic hemostasis. The combination of epinephrine injection with thermal coagulation may be more effective than epinephrine injection alone. Newer modalities such as fibrin injection or the application of hemo clips appear promising and comparative studies are awaited. (author)

ABNORMAL UTERINE BLEEDING IN ADOLESCENTS — ENDOCRINE PROFILE CONDITION

Directory of Open Access Journals (Sweden)

E. V. Sibirskaya

2014-01-01

Full Text Available Aim: The purpose of the study was to evaluate the endocrine profile condition in adolescent girls with abnormal uterine bleeding. Patients and methods: The participants of the study were 110 adolescent girls in the age between 11 and 15 years taken to hospital by emergency indication in the period between 2010–2013 years with dysfunctional uterine bleeding for the term from 3 to 48 days. In the first day of hospitalization before starting the hormonal therapy all patients underwent the physical examination, ultrasonic examination of pelvic organs and endocrine profile assessment. Concentration of follicle-stimulating hormone (FSH and luteinizing hormone (LH and the levels of mammotropic hormone, thyrotropic hormone, estradiol, progesterone and testosterone in their blood were determined. Besides that physicians assessed the complete blood count indices: hemoglobin concentration, erythrocyte number and hematocrits. Results: It was determined that the predisposing causes of abnormal uterine bleeding development in adolescents: high somatic pathology frequency, abnormalities of neuroendocrinal system and menstrual cycle. Gynecological pathology in adolescents is represented by significant disorders of menstrual function establishment expressed in the later beginning of menstruation, its intensity and duration. The authors also note the higher frequency of inflammatory diseases such as adnexitis, edeitis, vulvovaginitis and coleitis in comparison with the control group (37.3 and 30%, respectively. Another tendency was observed while studying the endocrine profile: in patients with hyperestrogenism the normal or increased content of FSH at the normal or lowered LH concentration is observed. At the same time, in patients with hypestrogenism FSH concentration at the lower limits of the age group is lowered, while LH concentration is lowered or normal. Conclusion: Abnormal uterine bleeding in adolescents in the most cases is developing in the setting

[Review of the recent literature on hereditary neuropathies].

Science.gov (United States)

Birouk, N

2014-12-01

The recent literature included interesting reports on the pathogenic mechanisms of hereditary neuropathies. The axonal traffic and its abnormalities in some forms of Charcot-Marie-Tooth (CMT) disease were particularly reviewed by Bucci et al. Many genes related to CMT disease code for proteins that are involved directly or not in intracellular traffic. KIF1B controls vesicle motility on microtubules. MTMR2, MTMR13 and FIG4 regulate the metabolism of phosphoinositide at the level of endosomes. The HSPs are involved in the proteasomal degradation. GDAP1 and MFN2 regulate the mitochondrial fission and fusion respectively and the mitochondial transport within the axon. Pareyson et al. reported a review on peripheral neuropathies in mitochondrial disorders. They used the term of "mitochondrial CMT" for the forms of CMT with abnormal mitochondrial dynamic or structure. Among the new entities, we can draw the attention to a proximal form of hereditary motor and sensory neuropathy with autosomal dominant inheritance, which is characterized by motor deficit with cramps and fasciculations predominating in proximal muscles. Distal sensory deficit can be present. The gene TFG on chromosome 3 has been recently identified to be responsible for this form. Another rare form of axonal autosomal recessive neuropathy due to HNT1 gene mutation is characterized by the presence of hands myotonia that appears later than neuropathy but constitute an interesting clinical hallmark to orientate the diagnosis of this form. In terms of differential diagnosis, CMT4J due to FIG4 mutation can present with a rapidly progressive and asymmetric weakness that resembles CIDP. Bouhy et al. made an interesting review on the therapeutic trials, animal models and the future therapeutic strategies to be developed in CMT disease. Copyright © 2014. Published by Elsevier Masson SAS.

Clinical features of Hereditary Haemorrhagic Telangiectasia

NARCIS (Netherlands)

Hosman, A.E.

2017-01-01

Hereditary Haemorrhagic Telangiectasia (HHT), also known as Rendu-Osler-Weber disease (ROW), is an autosomal dominant disease with multi-systemic vascular dysplasia characterized by mucocutaneous telangiectasia, arteriovenous malformations and recurrent spontaneous epistaxis (nosebleeds). Most cases

Scintigraphic detection and localization of gastrointestinal bleeding sites

International Nuclear Information System (INIS)

Alavi, A.

1988-01-01

Successful management of acute gastrointestinal (GI) bleeding usually depends on accurate localization of the bleeding site. History and clinical findings are often misleading in determination of the site of hemorrhage. The widespread application of flexible endoscopy and selective arteriography now provide accurate diagnoses for the majority of patients bleeding from the upper GI tract, but lower GI bleeding still poses a serious diagnostic challenge. Endoscopy and barium studies are of limited value in examining the small bowel and colon in the face of active hemorrhage. Arteriography, although successful in many cases (3-5), has limitations. The angiographic demonstration of bleeding is possible only when the injection of contrast material coincides with active bleeding at a rate greater than 0.5 ml/min, and since lower GI bleeding is commonly intermittent rather than continuous, a high rate of negative angiographic examinations has been reported. The diagnosis of lower GI bleeding is usually easy to make. In contrast, localizing the site of bleeding may be extremely difficult. Using the techniques described the nuclear physician may be able to detect the bleeding site precisely. However, if the cautions detailed are not observed, the tracer studies will show GI bleeding, but not at the true bleeding site. This must be carefully understood and avoided. Done correctly, these tests can have a major impact on patient care

Minimizing the Risk of Perioperative Bleeding in a Child with Hemophilia A during Dental Rehabilitation under General Anesthesia: A Case Report

OpenAIRE

Yehia El Batawi, Hisham

2013-01-01

ABSTRACT Hemophilia, among other bleeding disorders, raises concerns for dental service providers who routinely use sharp hand and rotary instruments, address highly vascular soft tissue and provide dental extractions. In pediatric dentistry, dealing with fearful or irritable children increases the possibility of trauma and subsequent bleeding risks in hemophilic pediatric dental patients. In the current report, we discuss how anesthetic, pediatric and dental management may contribute to the ...

Orofacial manifestations of hematological disorders: Anemia and hemostatic disorders

Directory of Open Access Journals (Sweden)

Titilope A Adeyemo

2011-01-01

Full Text Available The aim of this paper is to review the literature and identify orofacial manifestations of hematological diseases, with particular reference to anemias and disorders of hemostasis. A computerized literature search using MEDLINE was conducted for published articles on orofacial manifestations of hematological diseases, with emphasis on anemia. Mesh phrases used in the search were: oral diseases AND anaemia; orofacial diseases AND anaemia; orofacial lesions AND anaemia; orofacial manifestations AND disorders of haemostasis. The Boolean operator "AND" was used to combine and narrow the searches. Anemic disorders associated with orofacial signs and symptoms include iron deficiency anemia, Plummer-Vinson syndrome, megaloblastic anemia, sickle cell anemia, thalassaemia and aplastic anemia. The manifestations include conjunctiva and facial pallor, atrophic glossitis, angular stomatitis, dysphagia, magenta tongue, midfacial overgrowth, osteoclerosis, osteomyelitis and paraesthesia/anesthesia of the mental nerve. Orofacial petechiae, conjunctivae hemorrhage, nose-bleeding, spontaneous and post-traumatic gingival hemorrhage and prolonged post-extraction bleeding are common orofacial manifestations of inherited hemostatic disorders such as von Willebrand′s disease and hemophilia. A wide array of anemic and hemostatic disorders encountered in internal medicine has manifestations in the oral cavity and the facial region. Most of these manifestations are non-specific, but should alert the hematologist and the dental surgeon to the possibilities of a concurrent disease of hemopoiesis or hemostasis or a latent one that may subsequently manifest itself.

Epidemiology of Non-hereditary Angioedema

DEFF Research Database (Denmark)

Madsen, Flemming; Attermann, Jorn; Linneberg, Allan

2012-01-01

The prevalence of non-hereditary angioedema was investigated in a general population sample (n = 7,931) and in a sample of Danish patients (n = 7,433) tested for deficiency of functional complement C1 esterase inhibitor protein (functional C1 INH). The general population sample (44% response rate...

Índices eritrocitarios en la esferocitosis hereditaria Erythrocyte indexes in hereditary spherocytosis

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Silvia Eandi Eberle

2007-12-01

Full Text Available La esferocitosis hereditaria es un grupo heterogéneo de desórdenes caracterizados por la variabilidad en la clínica, en los defectos proteicos del citoesqueleto eritrocitario y en el tipo de herencia. Se estudió la sensibilidad y especificidad de la concentración de hemoglobina corpuscular media (CHCM y el índice de amplitud de distribución eritrocitaria (ADE en el screening diagnóstico de la esferocitosis hereditaria. Noventa y cuatro pacientes fueron comparados con niños sanos de igual sexo y edad. Todos los índices se obtuvieron por impedancia eléctrica (autoanalizador hematológico Coulter JT. En los pacientes con esferocitosis hereditaria, la CHCM (35.67±1.33 g/dl y el ADE (20.60±4.5%, fueron significativamente más elevados que en el grupo control (CHCM 33.48±0.68 g/dl, p 0.000; ADE 13.22±0.9%, p 0.000. Con los valores de corte utilizados en nuestro laboratorio (CHCM ≥ 34.5 g/dl; ADE ≥ 14.5% ambos índices elevados mostraron una sensibilidad de 81% y una especificidad de 98.9% en el screening de esferocitosis hereditaria. La combinación de ambos índices es un excelente predictor para el diagnóstico de esferocitosis hereditaria.Hereditary spherocytosis is a group of heterogenous disorders characterized by variability in its clinical manifestations, membrane protein defects and inheritance. We analysed the sensitivity and specificity of mean corpuscular hemoglobin concentration (MCHC and red cell distribution width (RDW in the diagnostic screening of hereditary spherocytosis. Ninetyfour patients were compared to equal number of healthy, age-matched children. All indexes were derived from measurements obtained by aperture impedance (Coulter Counter Model JT. In patients with hereditary spherocytosis, MCHC (35.67±1.33 g/dl and RDW (20.60±4.5% were significantly higher than in normal control subjects (MCHC 33.48±0.68 g/dl, p: 0.000; RDW 13.22±0.9%, p: 0.000. By using a cutoff for the MCHC of 34.5 g/dl and for the RDW

Helical CT in acute lower gastrointestinal bleeding

International Nuclear Information System (INIS)

Ernst, Olivier; Leroy, Christophe; Sergent, Geraldine; Bulois, Philippe; Saint-Drenant, Sophie; Paris, Jean-Claude

2003-01-01

The purpose of this study was to assess the usefulness of helical CT in depicting the location of acute lower gastrointestinal bleeding. A three-phase helical CT of the abdomen was performed in 24 patients referred for acute lower gastrointestinal bleeding. The diagnosis of the bleeding site was established by CT when there was at least one of the following criteria: spontaneous hyperdensity of the peribowel fat; contrast enhancement of the bowel wall; vascular extravasation of the contrast medium; thickening of the bowel wall; polyp or tumor; or vascular dilation. Diverticula alone were not enough to locate the bleeding site. The results of CT were compared with the diagnosis obtained by colonoscopy, enteroscopy, or surgery. A definite diagnosis was made in 19 patients. The bleeding site was located in the small bowel in 5 patients and the colon in 14 patients. The CT correctly located 4 small bowel hemorrhages and 11 colonic hemorrhages. Diagnosis of the primary lesion responsible for the bleeding was made in 10 patients. Our results suggest that helical CT could be a good diagnostic tool in acute lower gastrointestinal bleeding to help the physician to diagnose the bleeding site. (orig.)

Treating gynaecological disorders with traditional Chinese medicine ...

African Journals Online (AJOL)

Traditional Chinese Medicine (TCM) has significant advantages in treating gynaecological disorders. The paper has provided a brief introduction on the current progress of treating some gynaecological disorders including endometriosis, infertility, dysmenorrhea, abnormal uterine bleeding, premenstrual syndrome, ...

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

Science.gov (United States)

Kara, Eleanna; Tucci, Arianna; Manzoni, Claudia; Lynch, David S.; Elpidorou, Marilena; Bettencourt, Conceicao; Chelban, Viorica; Manole, Andreea; Hamed, Sherifa A.; Haridy, Nourelhoda A.; Federoff, Monica; Preza, Elisavet; Hughes, Deborah; Pittman, Alan; Jaunmuktane, Zane; Brandner, Sebastian; Xiromerisiou, Georgia; Wiethoff, Sarah; Schottlaender, Lucia; Proukakis, Christos; Morris, Huw; Warner, Tom; Bhatia, Kailash P.; Korlipara, L.V. Prasad; Singleton, Andrew B.; Hardy, John; Wood, Nicholas W.; Lewis, Patrick A.

2016-01-01

Abstract The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic paraplegia is complicated with additional neurological features, and are inherited in autosomal dominant, autosomal recessive or X-linked patterns. Genetic defects have been identified in over 40 different genes, with more than 70 loci in total. Complex recessive spastic paraplegias have in the past been frequently associated with mutations in SPG11 (spatacsin), ZFYVE26/SPG15 , SPG7 (paraplegin) and a handful of other rare genes, but many cases remain genetically undefined. The overlap with other neurodegenerative disorders has been implied in a small number of reports, but not in larger disease series. This deficiency has been largely due to the lack of suitable high throughput techniques to investigate the genetic basis of disease, but the recent availability of next generation sequencing can facilitate the identification of disease-causing mutations even in extremely heterogeneous disorders. We investigated a series of 97 index cases with complex spastic paraplegia referred to a tertiary referral neurology centre in London for diagnosis or management. The mean age of onset was 16 years (range 3 to 39). The SPG11 gene was first analysed, revealing homozygous or compound heterozygous mutations in 30/97 (30.9%) of probands, the largest SPG11 series reported to date, and by far the most common cause of complex spastic paraplegia in the UK, with severe and progressive clinical features and other neurological manifestations, linked with magnetic resonance imaging defects. Given the high frequency of SPG11 mutations, we studied the autophagic response to starvation in eight affected SPG11 cases and control fibroblast cell lines, but in our restricted study we did not observe correlations between disease status and autophagic or lysosomal markers. In the remaining

Vaginal bleeding in late pregnancy

Science.gov (United States)

... this page: //medlineplus.gov/ency/patientinstructions/000627.htm Vaginal bleeding in late pregnancy To use the sharing ... JavaScript. One out of 10 women will have vaginal bleeding during their 3rd trimester. At times, it ...

Peripartum Management of a Pregnant with Glanzmann’s Thrombasthenia: A Case Report

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Seda Ateş

2014-09-01

Full Text Available In this study, we aimed to present the case of a patient with Glanzmann’s thrombasthenia (GT which is a hereditary disorder characterized by defective platelet function. A twenty-six-year old woman with GT who underwent cesarean section due to labor arrest and persisting vaginal bleeding despite receiving 18 unit of random platelet concentrates, 6 units of apheresis platelet concentrates, and 2 units of erythrocyte suspension. Since patients with GT are at high risk for massive bleeding during and after delivery, they should give birth under close monitoring in advanced healthcare centers where experienced hematologists are available.(The Me­di­cal Bul­le­tin of Ha­se­ki 2014; 52: 208-11

Genetics Home Reference: hereditary hemochromatosis

Science.gov (United States)

... Type 1 hemochromatosis results from mutations in the HFE gene, and type 2 hemochromatosis results from mutations in ... about the genes associated with hereditary hemochromatosis HAMP HFE HJV PNPLA3 SLC40A1 TFR2 Related Information What is a gene? What is a gene mutation and how do ...

Hereditary pituitary hyperplasia with infantile gigantism.

Science.gov (United States)

Gläsker, Sven; Vortmeyer, Alexander O; Lafferty, Antony R A; Hofman, Paul L; Li, Jie; Weil, Robert J; Zhuang, Zhengping; Oldfield, Edward H

2011-12-01

We report hereditary pituitary hyperplasia. The objective of the study was to describe the results of the clinical and laboratory analysis of this rare instance of hereditary pituitary hyperplasia. The study is a retrospective analysis of three cases from one family. The study was conducted at the National Institutes of Health, a tertiary referral center. A mother and both her sons had very early-onset gigantism associated with high levels of serum GH and prolactin. The condition was treated by total hypophysectomy. We performed clinical, pathological, and molecular evaluations, including evaluation basal and provocative endocrine testing, neuroradiological assessment, and assessment of the pituitary tissue by microscopic evaluation, immunohistochemistry, and electron microscopy. All three family members had very early onset of gigantism associated with abnormally high serum levels of GH and prolactin. Serum GHRH levels were not elevated in either of the boys. The clinical, radiographic, surgical, and histological findings indicated mammosomatotroph hyperplasia. The pituitary gland of both boys revealed diffuse mammosomatotroph hyperplasia of the entire pituitary gland without evidence of adenoma. Prolactin and GH were secreted by the same cells within the same secretory granules. Western blot and immunohistochemistry demonstrated expression of GHRH in clusters of cells distributed throughout the hyperplastic pituitary of both boys. This hereditary condition seems to be a result of embryonic pituitary maldevelopment with retention and expansion of the mammosomatotrophs. The findings suggest that it is caused by paracrine or autocrine pituitary GHRH secretion during pituitary development.

Treatment of acute variceal bleeding

DEFF Research Database (Denmark)

Bendtsen, Flemming; Krag, Aleksander Ahm; Møller, Søren

2008-01-01

The management of variceal bleeding remains a clinical challenge with a high mortality. Standardisation in supportive and new therapeutic treatments seems to have improved survival within the last 25 years. Although overall survival has improved in recent years, mortality is still closely related...... to failure to control initial bleeding or early re-bleeding occurring in up to 30-40% of patients. Initial procedures are to secure and protect the airway, and administer volume replacement to stabilize the patient. Treatment with vasoactive drugs should be started as soon as possible, since a reduction...... in portal pressure is associated with a better control of bleeding and may facilitate later endoscopic procedures. Vasopressin and its analogues Terlipressin and somatostatin and analogues are the two types of medicine, which has been evaluated. In meta-analysis, only Terlipressin have demonstrated effects...

Talk with Expectant Parents about Late Vitamin K Deficient Bleeding Among Infants

Centers for Disease Control (CDC) Podcasts

2013-12-19

In this podcast, Dr. Lauren Marcewicz, a pediatrician with CDC’s Division of Blood Disorders, speaks about vitamin K deficiency bleeding in infants, the importance of vitamin K prophylaxis at birth, and how healthcare providers can provide the best information to their expectant parents.  Created: 12/19/2013 by National Center on Birth Defects and Developmental Disabilities (NCBDDD).   Date Released: 12/31/2013.

Management of patients with ulcer bleeding.

Science.gov (United States)

Laine, Loren; Jensen, Dennis M

2012-03-01

This guideline presents recommendations for the step-wise management of patients with overt upper gastrointestinal bleeding. Hemodynamic status is first assessed, and resuscitation initiated as needed. Patients are risk-stratified based on features such as hemodynamic status, comorbidities, age, and laboratory tests. Pre-endoscopic erythromycin is considered to increase diagnostic yield at first endoscopy. Pre-endoscopic proton pump inhibitor (PPI) may be considered to decrease the need for endoscopic therapy but does not improve clinical outcomes. Upper endoscopy is generally performed within 24h. The endoscopic features of ulcers direct further management. Patients with active bleeding or non-bleeding visible vessels receive endoscopic therapy (e.g., bipolar electrocoagulation, heater probe, sclerosant, clips) and those with an adherent clot may receive endoscopic therapy; these patients then receive intravenous PPI with a bolus followed by continuous infusion. Patients with flat spots or clean-based ulcers do not require endoscopic therapy or intensive PPI therapy. Recurrent bleeding after endoscopic therapy is treated with a second endoscopic treatment; if bleeding persists or recurs, treatment with surgery or interventional radiology is undertaken. Prevention of recurrent bleeding is based on the etiology of the bleeding ulcer. H. pylori is eradicated and after cure is documented anti-ulcer therapy is generally not given. Nonsteroidal anti-inflammatory drugs (NSAIDs) are stopped; if they must be resumed low-dose COX-2-selective NSAID plus PPI is used. Patients with established cardiovascular disease who require aspirin should start PPI and generally re-institute aspirin soon after bleeding ceases (within 7 days and ideally 1-3 days). Patients with idiopathic ulcers receive long-term anti-ulcer therapy.

Immunophenotyping of hereditary breast cancer

NARCIS (Netherlands)

van der Groep, P.

2009-01-01

Hereditary breast cancer runs in families where several family members in different generations are affected. Most of these breast cancers are caused by mutations in the high penetrance genes BRCA1 and BRCA2 which account for about 5% of all breast cancers. However, mutations in BRCA1 and BRCA2 may

Epidemiology of Non-hereditary Angioedema

DEFF Research Database (Denmark)

Madsen, Flemming; Attermann, Jørn; Linneberg, Allan

2012-01-01

The prevalence of non-hereditary angioedema was investigated in a general population sample (n¿=¿7,931) and in a sample of Danish patients (n¿=¿7,433) tested for deficiency of functional complement C1 esterase inhibitor protein (functional C1 INH). The general population sample (44% response rate...

Serendipity in scintigraphic gastrointestinal bleeding studies

International Nuclear Information System (INIS)

Goergen, T.G.

1983-01-01

A retrospective review of 80 scintigraphic bleeding studies performed with Tc-99m sulfur colloid or Tc-99m labeled red blood cells showed five cases where there were abnormal findings not related to bleeding. In some cases, the abnormalities were initially confused with bleeding or could obscure an area of bleeding, while in other cases, the abnormalities represented additional clinical information. These included bone marrow replacement related to tumor and radiation therapy, hyperemia related to a uterine leiomyoma and a diverticular abscess, and a dilated abdominal aorta (aneurysm). Recognition of such abnormalities should prevent an erroneous diagnosis and the additional information may be of clinical value

Management of Patients with Acute Lower Gastrointestinal Bleeding

Science.gov (United States)

Strate, Lisa L.; Gralnek, Ian M.

2016-01-01

This guideline provides recommendations for the management of patients with acute overt lower gastrointestinal hemorrhage. Hemodynamic status should be initially assessed with intravascular volume resuscitation started as needed. Risk stratification based upon clinical parameters should be performed to help distinguish patients at high and low-risk of adverse outcomes. Hematochezia associated with hemodynamic instability may be indicative of an upper GI bleeding source and thus warrants an upper endoscopy. In the majority of patients, colonoscopy should be the initial diagnostic procedure and should be performed within 24 hours of patient presentation after adequate colon preparation. Endoscopic hemostasis therapy should be provided to patients with high risk endoscopic stigmata of bleeding including active bleeding, non-bleeding visible vessel, or adherent clot. The endoscopic hemostasis modality used (mechanical, thermal, injection or combination) is most often guided by the etiology of bleeding, access to the bleeding site, and endoscopist experience with the various hemostasis modalities. Repeat colonoscopy, with endoscopic hemostasis performed if indicated, should be considered for patients with evidence of recurrent bleeding. Radiographic interventions (tagged red blood cell scintigraphy, CT angiography, angiography) should be considered in high-risk patients with ongoing bleeding who do not respond adequately to resuscitation, and who are unlikely to tolerate bowel preparation and colonoscopy. Strategies to prevent recurrent bleeding should be considered. NSAID use should be avoided in patients with a history of acute lower GI bleeding particularly if secondary to diverticulosis or angioectasia. In patients with established cardiovascular disease who require aspirin (secondary prophylaxis), aspirin should not be discontinued. The exact timing depends on the severity of bleeding, perceived adequacy of hemostasis and the risk of a thromboembolic event. Surgery

Hereditary rickets. How genetic alterations explain the biochemical and clinical phenotypes.

Science.gov (United States)

Papadopoulou, Anna; Gole, Evaggelia; Nicolaidou, Polyxeni

2013-12-01

The reemergence of vitamin D deficiency in the industrialized countries resurrects the "threat" of nutritional rickets, especially among pediatric populations, a fact that may lead to underdiagnosis of hereditary rickets. Today, hereditary rickets may be subdivided into two main groups according to their biochemical profile: the one associated with defects in vitamin D synthesis and action and the second associated with abnormal phosphorus metabolism. The classification of the patients in a particular group of hereditary rickets is determinative of the treatment to follow. This review, through the recent advances on vitamin D and P metabolism, discusses the molecular and biochemical defects associated to each group of inherited rickets, as well as the clinical phenotypes and the recommended therapeutic approaches.

Risk of bleeding with dabigatran in atrial fibrillation.

Science.gov (United States)

Hernandez, Inmaculada; Baik, Seo Hyon; Piñera, Antonio; Zhang, Yuting

2015-01-01

It remains unclear whether dabigatran etexilate mesylate is associated with higher risk of bleeding than warfarin sodium in real-world clinical practice. To compare the risk of bleeding associated with dabigatran and warfarin using Medicare data. In this retrospective cohort study, we used pharmacy and medical claims in 2010 to 2011 from a 5% random sample of Medicare beneficiaries. We identified participants as those newly diagnosed as having atrial fibrillation from October 1, 2010, through October 31, 2011, and who initiated dabigatran or warfarin treatment within 60 days of initial diagnosis. We followed up patients until discontinued use or switch of anticoagulants, death, or December 31, 2011. Dabigatran users (n = 1302) and warfarin users (n = 8102). We identified any bleeding events and categorized them as major and minor bleeding by anatomical site. Major bleeding events included intracranial hemorrhage, hemoperitoneum, and inpatient or emergency department stays for hematuria, gastrointestinal, or other hemorrhage. We used a propensity score weighting mechanism to balance patient characteristics between 2 groups and Cox proportional hazards regression models to evaluate the risk of bleeding. We further examined the risk of bleeding for 4 subgroups of high-risk patients: those 75 years or older, African Americans, those with chronic kidney disease, and those with more than 7 concomitant comorbidities. Dabigatran was associated with a higher risk of bleeding relative to warfarin, with hazard ratios of 1.30 (95% CI, 1.20-1.41) for any bleeding event, 1.58 (95% CI, 1.36-1.83) for major bleeding, and 1.85 (95% CI, 1.64-2.07) for gastrointestinal bleeding. The risk of intracranial hemorrhage was higher among warfarin users, with a hazard ratio of 0.32 (95% CI, 0.20-0.50) for dabigatran compared with warfarin. Dabigatran was consistently associated with an increased risk of major bleeding and gastrointestinal hemorrhage for all subgroups analyzed. The risk of

Novel association of achalasia with hereditary sensory and motor neuropathy with sensorineural deafness.

Science.gov (United States)

Asthana, A K; Lubel, J S; Kohn, G P

2016-08-01

Achalasia is a primary esophageal motility disorder. Unlike diffuse esophageal spasm, it has not previously been described in association with hereditary sensory and motor neuropathy (HSMN). An 18-year-old-male with HSMN with sensorineural deafness presented with a 2-day history of dysphagia to solids and liquids. Achalasia was diagnosed after extensive investigations, and his symptoms resolved with endoscopic and definitive surgical management. His monozygotic twin brother had also been diagnosed with HSMN and suffered from chronic dysphagia, which was also subsequently diagnosed with achalasia. This is the first case to illustrate an association between HSMN with sensorineural deafness and achalasia. © 2013 Wiley Periodicals, Inc. and the International Society for Diseases of the Esophagus.

Causes of lower gastrointestinal bleeding on colonoscopy

International Nuclear Information System (INIS)

Rehman, A.U.; Gul, R.; Khursheed, L.; Hadayat, R.

2017-01-01

Background: Bleeding from anus is usually referred as rectal bleeding but actually rectal bleeding is defined as bleeding from lower colon or rectum, which means bleeding from a place distal to ligament of Treitz. This study was conducted to determine the frequency of different causes of rectal bleeding in patients at Ayub Teaching Hospital, Abbottabad. Methods: One hundred and seventy-five patients with evidence of rectal bleed, without gender discrimination were selected by non-probability convenient sampling from the out-patient department and general medical wards. Patients with suspected upper GI source of bleeding; acute infectious bloody diarrhoea and any coagulopathy were excluded from the study. All patients were subjected to fibre optic colonoscopy after preparation of the gut and findings were recorded. Where necessary, biopsy samples were also taken. Diagnosis was based on colonoscopic findings. Results: A total of 175 patients (92 males and 83 females) with mean age 35.81±9.18 years were part of the study. Colonoscopy showed abnormal findings in 150 (85.7%) patients. The commonest diagnosis was haemorrhoids, which was found in 39 (22.3%) patients. It was followed by inflammatory bowel disease (IBD) in 30 (17.1%) patients, solitary rectal ulcer in 13 (7.4%) patients and polyps in 25 (14.3%) patients. Other less frequent findings were non-specific inflammation and fungating growths in rectum. Conclusion: Haemorrhoids was the leading cause of bleeding per rectum in this study, followed by evidence of IBD while infrequent findings of polyps and diverticuli indicate that these are uncommon in this region. (author)

The FIGO systems for nomenclature and classification of causes of abnormal uterine bleeding in the reproductive years: who needs them?

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Munro, Malcolm G; Critchley, Hilary O D; Fraser, Ian S

2012-10-01

In November 2010, the International Federation of Gynecology and Obstetrics formally accepted a new classification system for causes of abnormal uterine bleeding in the reproductive years. The system, based on the acronym PALM-COEIN (polyps, adenomyosis, leiomyoma, malignancy and hyperplasia-coagulopathy, ovulatory disorders, endometrial causes, iatrogenic, not classified) was developed in response to concerns about the design and interpretation of basic science and clinical investigation that relates to the problem of abnormal uterine bleeding. A system of nomenclature for the description of normal uterine bleeding and the various symptoms that comprise abnormal bleeding has also been included. This article describes the rationale, the structured methods that involved stakeholders worldwide, and the suggested use of the International Federation of Gynecology and Obstetrics system for research, education, and clinical care. Investigators in the field are encouraged to use the system in the design of their abnormal uterine bleeding-related research because it is an approach that should improve our understanding and management of this often perplexing clinical condition. Copyright © 2012. Published by Mosby, Inc.

Scintigraphic pattern of small bowel bleeding

International Nuclear Information System (INIS)

Anshu Rajnish Sharma; Charan, S.; Silva, I.

2004-01-01

Introduction: Small intestine is the longest part of gastrointestinal tract. Intra-luminal haemorrhage occurring anywhere in its long and tortuous course is difficult to trace. It is relatively inaccessible to endoscopic evaluation. Upper GI endoscopy can see only up to distal duodenum, whereas colonoscope can view maximum of 30 centimeters of terminal ileum after negotiating the scope through ileo-caecal valve. Hence, localization of bleeding source from small bowel remains a difficult clinical problem. This group of patients can be evaluated with scintigraphy for localizing the site of bleeding before undergoing either angiography or surgery. To our best of knowledge, there is no study, which has utilized scintigraphy for evaluation of small bowel bleed exclusively. The present study has been designed to know the efficacy of 99mTc-RBC scintigraphy in detecting small bowel bleed and to know whether it can differentiate between jejunal and ileal bleeding ? Materials and methods: Thirteen patients presenting with lower gastrointestinal bleeding (malena) were enrolled for the study. In all cases, upper GI endoscopy (UGIE) was unremarkable. Colonoscopic examination was either negative or suspected bleeding occurring proximal to ileo-caecal valve. Thus, in these patients, it is presumed clinically that bleeding is originating from small bowel. Barium meal follow through (BMFT) studies, however, could not delineate any etiological lesion in these patients. There were 8 men and 5 women (mean age 48 years). All patients were anemic (Hb- 6 gm%) and mean 3 units of blood were transfused.These patients were subjected to Tc-99m labeled red blood cells scintigraphy (15 mci, in-vivo method) for localization of source of bleeding. The scintiscan was acquired in two phases. A first pass phase acquired at a rate of 2 seconds per frame for 60 seconds followed by acquisition of static abdominal images (500 K, 256 x 256 matrix) at 5 minutes intervals up to 90 minutes on LFOV gamma

Positive effects of voluntary running on metabolic syndrome-related disorders in non-obese hereditary hypertriacylglycerolemic rats.

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Vojt ch Škop

Full Text Available While metabolic syndrome is often associated with obesity, 25% of humans suffering from it are not obese and the effect of physical activity remains unclear in such cases. Therefore, we used hereditary hypertriaclyglycerolemic (HHTg rats as a unique model for studying the effect of spontaneous physical activity [voluntary running (VR] on metabolic syndrome-related disorders, such as dyslipidemia, in non-obese subjects. Adult HHTg males were fed standard (CD or high-sucrose (HSD diets ad libitum for four weeks. Within both dietary groups, some of the rats had free access to a running wheel (CD+VR, HSD+VR, whereas the controls (CD, HSD had no possibility of extra physical activity. At the end of the four weeks, we measured the effects of VR on various metabolic syndrome-associated parameters: (i biochemical parameters, (ii the content and composition of triacylglycerols (TAG, diacylglycerols (DAG, ceramides and membrane phospholipids, and (iii substrate utilization in brown adipose tissue. In both dietary groups, VR led to various positive effects: reduced epididymal and perirenal fat depots; increased epididymal adipose tissue lipolysis; decreased amounts of serum TAG, non-esterified fatty acids and insulin; a higher insulin sensitivity index. While tissue ceramide content was not affected, decreased TAG accumulation resulted in reduced and modified liver, heart and skeletal muscle DAG. VR also had a beneficial effect on muscle membrane phospholipid composition. In addition, compared with the CD group, the CD+VR rats exhibited increased fatty acid oxidation and protein content in brown adipose tissue. Our results confirm that physical activity in a non-obese model of severe dyslipidemia has many beneficial effects and can even counteract the negative effects of sucrose consumption. Furthermore, they suggest that the mechanism by which these effects are modulated involves a combination of several positive changes in lipid metabolism.

Effect of Gastric Acid Suppressant Prophylaxis on Incidence of Gastrointestinal Bleeding in Pediatric Intensive Care Unit

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Tahoora Abdollahi

2016-11-01

Full Text Available Background: Critically ill children admitted to pediatric intensive care unit (PICU are at increased risk of gastrointestinal bleeding due to stress related mucosal injury. Reducing gastric acid by acid suppressant medication is the accepted prophylaxis treatment, but there is not any definitive guideline for using prophylaxis in PICU patients. The present study aimed to assess the effect of Proton Pump Inhibitor (PPI and H2 Blocker (H2B prophylaxis on gastrointestinal bleeding in admitted patients of PICU, Mashhad- Iran.Materials and Methods: In this study, 100 patients admitted in PICU divided into two equal groups on the first day of admission. They received ranitidine or pantoprazole as prophylaxis of stress ulcer. Those patients who had history of gastrointestinal bleeding or coagulation disorder were excluded. 100 PICU patients who had not received prophylaxis during last 6 months retrospectively evaluated as control of the study. Data were collected as demographic characteristics, admission reason, definitive diagnosis, receiving corticosteroid and mechanical ventilation in each patient. Gastrointestinal bleeding (hematemesis, coffee ground aspirate, and melena and clinically significant gastrointestinal bleeding were daily monitored. Data analyzed through descriptive statistical tests, Chi-square, logistic regression, t-test and using SPSS-16 software.Results: Among 204 patients (control group=105 and case group=99, incidence of gastrointestinal bleeding (GB was 13.2% in which 6.9% of cases presented with clinically significant gastrointestinal bleeding (CSGB. Loss of consciousness and respiratory distress were the main reason of admission. There was no significant differences between the incidence of (GB and (CSGB in experimental and control groups (P>0.05 as well as ranitidine and pantoprazole prophylaxis (P>0.05. Significant risk factors of (GB were mechanical ventilation and loss of consciousness and corticosteroid therapy

Hereditary noetherian prime rings and idealizers

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Levy, Lawrence S

2011-01-01

The direct sum behaviour of its projective modules is a fundamental property of any ring. Hereditary Noetherian prime rings are perhaps the only noncommutative Noetherian rings for which this direct sum behaviour (for both finitely and infinitely generated projective modules) is well-understood, yet highly nontrivial. This book surveys material previously available only in the research literature. It provides a re-worked and simplified account, with improved clarity, fresh insights and many original results about finite length modules, injective modules and projective modules. It culminates in the authors' surprisingly complete structure theorem for projective modules which involves two independent additive invariants: genus and Steinitz class. Several applications demonstrate its utility. The theory, extending the well-known module theory of commutative Dedekind domains and of hereditary orders, develops via a detailed study of simple modules. This relies upon the substantial account of idealizer subrings wh...

Hereditary Ovarian Cancer: Not Only BRCA 1 and 2 Genes

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Angela Toss

2015-01-01

Full Text Available More than one-fifth of ovarian tumors have hereditary susceptibility and, in about 65–85% of these cases, the genetic abnormality is a germline mutation in BRCA genes. Nevertheless, several other suppressor genes and oncogenes have been associated with hereditary ovarian cancers, including the mismatch repair (MMR genes in Lynch syndrome, the tumor suppressor gene, TP53, in the Li-Fraumeni syndrome, and several other genes involved in the double-strand breaks repair system, such as CHEK2, RAD51, BRIP1, and PALB2. The study of genetic discriminators and deregulated pathways involved in hereditary ovarian syndromes is relevant for the future development of molecular diagnostic strategies and targeted therapeutic approaches. The recent development and implementation of next-generation sequencing technologies have provided the opportunity to simultaneously analyze multiple cancer susceptibility genes, reduce the delay and costs, and optimize the molecular diagnosis of hereditary tumors. Particularly, the identification of mutations in ovarian cancer susceptibility genes in healthy women may result in a more personalized cancer risk management with tailored clinical and radiological surveillance, chemopreventive approaches, and/or prophylactic surgeries. On the other hand, for ovarian cancer patients, the identification of mutations may provide potential targets for biologic agents and guide treatment decision-making.

Mortality in high-risk patients with bleeding Mallory-Weiss syndrome is similar to that of peptic ulcer bleeding. Results of a prospective database study.

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Ljubičić, Neven; Budimir, Ivan; Pavić, Tajana; Bišćanin, Alen; Puljiz, Zeljko; Bratanić, Andre; Troskot, Branko; Zekanović, Dražen

2014-04-01

The aim of this study was to identify the predictive factors influencing mortality in patients with bleeding Mallory-Weiss syndrome in comparison with peptic ulcer bleeding. Between January 2005 and December 2009, 281 patients with endoscopically confirmed Mallory-Weiss syndrome and 1530 patients with peptic ulcer bleeding were consecutively evaluated. The 30-day mortality and clinical outcome were related to the patients' demographic data, endoscopic, and clinical characteristics. The one-year cumulative incidence for bleeding Mallory-Weiss syndrome was 7.3 cases/100,000 people and for peptic ulcer bleeding 40.4 cases/100,000 people. The age-standardized incidence for both bleeding Mallory-Weiss syndrome and peptic ulcer bleeding remained unchanged during the observational five-year period. The majority of patients with bleeding Mallory-Weiss syndrome were male patients with significant overall comorbidities (ASA class 3-4). Overall 30-day mortality rate was 5.3% for patients with bleeding Mallory-Weiss syndrome and 4.6% for patients with peptic ulcer bleeding (p = 0.578). In both patients with bleeding Mallory-Weiss syndrome and peptic ulcer bleeding, mortality was significantly higher in patients over 65 years of age and those with significant overall comorbidities (ASA class 3-4). The incidence of bleeding Mallory-Weiss syndrome and peptic ulcer bleeding has not changed over a five-year observational period. The overall 30-day mortality was almost equal for both bleeding Mallory-Weiss syndrome and peptic ulcer bleeding and was positively correlated to older age and underlying comorbid illnesses.

Management of upper airway edema caused by hereditary angioedema

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Farkas Henriette

2010-07-01

Full Text Available Abstract Hereditary angioedema is a rare disorder with a genetic background involving mutations in the genes encoding C1-INH and of factor XII. Its etiology is unknown in a proportion of cases. Recurrent edema formation may involve the subcutis and the submucosa - the latter can produce obstruction in the upper airways and thereby lead to life-threatening asphyxia. This is the reason for the high, 30-to 50-per-cent mortality of undiagnosed or improperly managed cases. Airway obstruction can be prevented through early diagnosis, meaningful patient information, timely recognition of initial symptoms, state-of-the-art emergency therapy, and close monitoring of the patient. Prophylaxis can substantially mitigate the risk of upper airway edema and also improve the patients' quality of life. Notwithstanding the foregoing, any form of upper airway edema should be regarded as a potentially life-threatening condition. None of the currently available prophylactic modalities is capable of preventing UAE with absolute certainty.

[Related factors to re-bleeding and mortality in cirrhotic patients with acute variceal bleeding at Hipolito Unanue Hospital, Lima, Peru].

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Parra Pérez, Víctor Felipe; Raymundo Cajo, Roxana Magali; Gutiérrez de Aranguren, Constantino Fernando

2013-01-01

To determine related factors to 5 days re-bleeding and 6 week-mortality of an episode of variceal bleeding in cirrhotic patients. Observational, descriptive, co relational, retrospective study. In this study were included the cirrhotic patients who entered to Hipolito Unanue Hospital, Lima, Peru, between January 2006 and February 2012 with suspicion of variceal bleeding. Were excluded patients who bled from nonvariceal origin, or that did not have the data in clinical history to calculate the Child Pugh score, the Model for terminal diseases of the liver (MELD), or the endoscopic report detailing the bleeding source and the presence of esophageal and/or gastric varices. We include 63 patients, 35 (55.6%) were men. The median of age was of 64 years. 26 of them (41.3%) were Child Pugh C, where as the median of MELD score was 9. The multivariate analysis found that the Child Pugh score was related to 6 weeks-mortality (p=0,003), where as the presence of active bleeding during endoscopy (p=0.012) and the value of creatinine (p=0.012) were related to 5 days re-bleeding. The Child Pugh score was related to 6 weeks-mortality in cirrhotic patients with variceal bleeding. Active bleeding during endoscopy and the value of creatinine were related to 5 days re-bleeding.

Angiographic diagnosis and treatment of gastrointestinal bleeding

International Nuclear Information System (INIS)

Park, Jae Hyung; Sung, Kyu Bo; Koo, Kyung Hoi; Bae, Tae Young; Chung, Eun Chul; Han, Man Chung

1986-01-01

Diagnostic angiographic evaluations were done in 33 patients with gastrointestinal bleeding for recent 5 years at Department of Radiology, Seoul National University Hospital. On 11 patients of them, therapeutic interventional procedures were made and the results were analysed. 1. In a total of 33 cases, there were 18 cases of upper GI bleeding and 15 cases of lower GI bleeding. The most frequent causes were peptic ulcer in the former and intestinal typhoid fever in the latter. 2. Bleeding sites were localized angiographically in 28 cases, so the detection rate was 85%. Four of the five angiographically negative cases were lower GI bleeding cases. 3. The most frequent bleeding site was left gastric artery (7/33). The next was ileocecal branch of superior mesenteric artery (6/33). 4. Among the 11 interventional procedures, Gelfoam embolization was done in 7 cases and Vasopressin infusion was tried in 4 cases. They were successful in 4 and 3 cases, suggesting 57% and 47% success rates respectively.

Angiographic diagnosis and treatment of gastrointestinal bleeding

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Park, Jae Hyung; Sung, Kyu Bo; Koo, Kyung Hoi; Bae, Tae Young; Chung, Eun Chul; Han, Man Chung [Seoul National University College of Medicine, Seoul (Korea, Republic of)

1986-02-15

Diagnostic angiographic evaluations were done in 33 patients with gastrointestinal bleeding for recent 5 years at Department of Radiology, Seoul National University Hospital. On 11 patients of them, therapeutic interventional procedures were made and the results were analysed. 1. In a total of 33 cases, there were 18 cases of upper GI bleeding and 15 cases of lower GI bleeding. The most frequent causes were peptic ulcer in the former and intestinal typhoid fever in the latter. 2. Bleeding sites were localized angiographically in 28 cases, so the detection rate was 85%. Four of the five angiographically negative cases were lower GI bleeding cases. 3. The most frequent bleeding site was left gastric artery (7/33). The next was ileocecal branch of superior mesenteric artery (6/33). 4. Among the 11 interventional procedures, Gelfoam embolization was done in 7 cases and Vasopressin infusion was tried in 4 cases. They were successful in 4 and 3 cases, suggesting 57% and 47% success rates respectively.

Radiological diagnosis of gastrointestinal bleeding

International Nuclear Information System (INIS)

Neufang, K.F.R.; Gross-Fengels, W.; Lorenz, R.

1990-01-01

In the diagnosis of acute gastrointestinal bleeding, endoscopy holds the first place today. Radiological investigations are indispensable whenever endoscopy cannot precisely localise the bleeding site, whenever a tumour is present or suspected, in all cases of lower gastrointestinal bleeding, and in haemobilia. A tailored radiological approach is recommended. The radiological basis programme should be at least a complete abdominal ultrasound study and plain abdominal radiograms. CT and ERCP scans may become necessary in selected cases. As a rule, angiographical localisation of the bleeding site will be successful only in the acute stage; selective visceral arteriograms have to be obtained, which may be executed in the digital subtraction technique in patients who are cooperating and clinically stable. Angiodysplasias and aneurysms, however, may be demonstrated angiographically in the interval as well. Upper and/or lower G.I. tract studies with barium or water-soluble contrast media may be indicated in the interval in order to demonstrate tumours, metastatic lesions, diverticula and gut malformations. (orig.) [de

Management of tooth extraction in a patient with a rare bleeding disorder associated with Hermansky-Pudlak syndrome: a case report.

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Minkin, Patton; Bertetti, Richard; Lindsey, Sean; Bovino, Brian

2015-02-01

This report describes the case of a 27-year-old man who had been diagnosed with Hermansky-Pudlak syndrome shortly after birth. Because the patient had a major bleeding disorder associated with his syndrome, local and systemic hemostatic protection recommendations had to be considered before tooth extraction. Synthetic vasopressin (1-deamino-8-d-arginine vasopressin [DDAVP]) was transfused intravenously before surgery. During surgery the patient was transfused with 1 U of human leukocyte antigen (HLA)-matched apheresis platelets. A hemostatic packing of Avitene and Gelfoam was adapted to the extraction site. Treatment with DDAVP, HLA-matched platelets, and local application of a packing with Avitene and Gelfoam resulted in sustained hemostasis and an excellent healing response. Surgical and routine extractions appear to be safe procedures in patients with Hermansky-Pudlak syndrome when appropriate local and systemic hemostatic measures are used. Copyright © 2015 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

Photocoagulation in the treatment of bleeding peptic ulcer

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Otto, Wlodzimierz; Paczkowski, Pawel M.

1996-03-01

The authors present their experience in the endoscopic laser photocoagulation of bleeding peptic ulcer. From 1991 to June 1995, 203 patients admitted for UGI bleeding from peptic ulcer have been treated by this method. The source of bleeding was confirmed by endoscopy. The patients were divided into two groups: actively bleeding peptic ulcer (group IA and IB according to Forrest's classification) and ulcer with stigmata of recent bleeding (group IIA/IIB). The former group consisted of 106 patients, among whom over 40 percent (45 patients) presented signs of hypovolemic shock on admission. Nd:YAG laser (Surgical Laser Technologies) was used in a continuous mode with a contact (8 - 20 watts) or non-contact (over 50 watts) method of coagulation. In actively bleeding patients photocoagulation resulted in stopping the hemorrhage in 95 (90%). Recurrent bleeding occurred in 16 cases; in 9 of them it was stopped by repeated photocoagulation. In this group 18 patients required surgical intervention. The mortality was of 10.3% (11 patients). In 97 patients with recent bleeding stigmata photocoagulation provoked heavy hemorrhage in 3 (in 2 cases stopped by prolonged coagulation). In 9 of the remaining 94 patients recurrent bleeding occurred. Nine patients required surgical intervention. Mortality in this group was of 6%.

[Psychogenic purpura with hematuria and sexual pain disorder: a case report].

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Ozyildirim, Ilker; Yücel, Başak; Aktan, Melih

2010-01-01

Psychogenic purpura (Gardner-Diamond syndrome) is the occurrence and spontaneous recurrence of painful ecchymosis following emotional stress and minor trauma. Although the exact mechanism of this syndrome remains unknown, apart from skin lesions, different types of hemorrhaging have been reported, such as epistaxis, gastrointestinal bleeding, and bleeding from the ear canals and eyes. We report a psychogenic purpura case that presented with hematuria in addition to skin lesions. Based on the psychiatric evaluation she was diagnosed with major depressive disorder, generalized anxiety disorder, and obsessive-compulsive disorder. Additionally, sexual pain disorder accompanied these disorders. With the help of antidepressant and supportive psychotherapy, the patient's ecchymosis and bleeding disappeared. During 8 months of follow-up the symptoms did not return. Vaginismus has not been reported in patients with psychogenic purpura. The presence of vaginismus, which is seen more frequently in eastern cultures and is thought to be related to sociocultural determinants, suggests that some cultural factors may be common to both psychogenic purpura and vaginismus. The aim of this case report was to call attention to a syndrome that is rarely seen and diagnosed, and to discuss its relationship to psychosocial factors. This syndrome should be considered in the differential diagnosis of not only ecchymotic lesions, but also various types of bleeding, including hematuria. Despite the fact that its etiology and treatment are not clearly understood, it should be noted that psychological factors play a role in this disease and therefore, psychopharmacological and psychotherapeutic approaches can be effective.

MRI in Leber's hereditary optic neuropathy

DEFF Research Database (Denmark)

Matthews, Lucy; Enzinger, Christian; Fazekas, Franz

2015-01-01

BACKGROUND: Leber's hereditary optic neuropathy (LHON) and a multiple sclerosis (MS)-like illness appear to coexist 50 times more frequently than would be expected by chance. This association of LHON and MS (LMS) raises an important question about whether there could be a common pathophysiological...

Descriptive Epidemiology, Molecular Biology and Genetics of Hereditary Prostate Cancer in Denmark

DEFF Research Database (Denmark)

Bentzon, Diem Nguyen

2012-01-01

A search for markers that can differentiate indolent prostate cancers from more aggressive forms. Assessment of clinical differences between hereditary and sporadicc prostate cancer.......A search for markers that can differentiate indolent prostate cancers from more aggressive forms. Assessment of clinical differences between hereditary and sporadicc prostate cancer....

Leber hereditary optic neuropathy: current perspectives

Science.gov (United States)

Meyerson, Cherise; Van Stavern, Greg; McClelland, Collin

2015-01-01

Leber hereditary optic neuropathy (LHON) is one of the most common inherited optic neuropathies causing bilateral central vision loss. The disorder results from point mutations in mitochondrial DNA and subsequent mitochondrial dysfunction. The primary cell type that is lost in LHON is the retinal ganglion cell, which is highly susceptible to disrupted ATP production and oxidative stress. Inheritance of LHON follows that of mitochondrial genetics, and it has a highly variable clinical phenotype, as other genetic and environmental factors also play a role. Although LHON usually presents with isolated vision loss, some patients suffer other neurological sequelae. For ill-defined reasons, male LHON mutation carriers are more affected than females. Most LHON patients remain legally blind, but a small proportion can experience spontaneous partial recovery, often within the first year of symptom onset. Unfortunately, at this time there are no established curative interventions and treatment is largely supportive. Patients should be offered low vision services and counseled on mitigating risk factors for additional vision loss, such as smoking and consuming alcohol. Encouraging treatments currently undergoing investigation includes ubiquinone analogs, such as idebenone, as well as gene therapy and stem cells to restore ATP synthesis and provide neuroprotection to surviving retinal ganglion cells. PMID:26170609

Genetics 101 --The Hereditary Material of Life

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... of this page please turn Javascript on. Feature: Genetics 101 Genetics 101 — The Hereditary Material of Life Past Issues / Summer 2013 Table of Contents Genetics is the study of heredity, the process in ...

The analysis of the causes of uterine bleeding occurred after cesarean section and the evaluation of interventional therapy for bleeding

International Nuclear Information System (INIS)

Hu Peng; Li Yuwei; Li Yunhui; Luo Bin; Wen Wen; Yang Bo

2011-01-01

Objective: to analyze the causes of uterine hemorrhage occurred after cesarean section and to investigate the value of angiography and transcatheter artery embolization (TAE) in the diagnosis and treatment of postpartum hemorrhage after cesarean section. Methods: During the period from Jan. 2001 to Dec. 2011, a total of 65 cases suffering from uterine bleeding after cesarean section had underwent uterine arteriography to clarify the diagnosis, which was followed by transcatheter uterine artery embolization (TUAE). The clinical data, the causes of bleeding and the angiographic features were retrospectively analyzed. Results: The causes of uterine bleeding after cesarean section included uterine artery pseudoaneurysm (n=26), uterine atony (n=18), placental factors (n=11), gestational hypertension (n=8), coexisting uterine fibroids (n=1) and uterine bleeding of unknown reason (n=1). Uterine artery angiography revealed contrast extravasation in all patients except one patient. The angiographic findings confirmed the diagnosis of uterine artery bleeding after cesarean section. The bleeding stopped after TUAE, and the patients were in stable condition. No serious complications occurred. Conclusion: Pseudoaneurysm is the primary cause of postpartum uterine hemorrhage after cesarean section. Transcatheter uterine artery angiography can promptly and reliably determine the causes of bleeding, and, at the same time, embolization therapy can be carried out to effectively stop the bleeding. (authors)

THROMBIN GENERATION AND BLEEDING IN HEMOPHILIA A

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Brummel-Ziedins, Kathleen E.; Whelihan, Matthew F.; Gissel, Matthew; Mann, Kenneth G.; Rivard, Georges E.

2012-01-01

Introduction Hemophilia A displays phenotypic heterogeneity with respect to clinical severity. Aim To determine if tissue factor (TF)-initiated thrombin generation profiles in whole blood in the presence of corn trypsin inhibitor (CTI) are predictive of bleeding risk in hemophilia A. Methods We studied factor(F) VIII deficient individuals (11 mild, 4 moderate and 12 severe) with a well-characterized five-year bleeding history that included hemarthrosis, soft tissue hematoma and annual FVIII concentrate usage. This clinical information was used to generate a bleeding score. The bleeding scores (range 0–32) were separated into three groups (bleeding score groupings: 0, 0 and ≤9.6, >9.6), with the higher bleeding tendency having a higher score. Whole blood collected by phlebotomy and contact pathway suppressed by 100μg/mL CTI was stimulated to react by the addition of 5pM TF. Reactions were quenched at 20min by inhibitors. Thrombin generation, determined by ELISA for thrombin – antithrombin was evaluated in terms of clot time (CT), maximum level (MaxL) and maximum rate (MaxR) and compared to the bleeding score. Results Data are shown as the mean±SD. MaxL was significantly different (phemophilia A. PMID:19563500

Monitoring and treatment of acute gastrointestinal bleeding.

Science.gov (United States)

Lenjani, Basri; Zeka, Sadik; Krasniqi, Salih; Bunjaku, Ilaz; Jakupi, Arianit; Elshani, Besni; Xhafa, Agim

2012-01-01

Acute gastrointestinal bleeding-massive acute bleeding from gastrointestinal section is one of the most frequent forms of acute abdomen. The mortality degree in emergency surgery is about 10%. It's very difficult to identify the place of bleeding and etiology. The important purpose of this research is to present the cases of acute gastrointestinal bleeding from the patients which were monitored and treated at The University Clinical Center of Kosova-Emergency Center in Pristina. These inquests included 137 patients with acute gastrointestinal bleeding who were treated in emergency center of The University Clinical Center in Pristina for the period from January 2005 until December 2006. From 137 patients with acute gastrointestinal bleeding 41% or 29% was female and 96% or 70.1% male. Following the sex we gained a high significant difference of statistics (p < 0.01). The gastrointestinal bleeding was two times more frequent in male than in female. Also in the age-group we had a high significant difference of statistics (p < 0.01) 63.5% of patients were over 55 years old. The mean age of patients with an acute gastrointestinal bleeding was 58.4 years SD 15.8 age. The mean age for female patients was 56.4 age SD 18.5 age. The patients with arterial systolic pressure under 100 mmHg have been classified as patients with hypovolemic shock. They participate with 17.5% in all prevalence of acute gastrointestinal bleeding. From the number of prevalence 2 {1.5%} patients have been diagnosed with peptic ulcer, 1 {0.7%} as gastric perforation and 1 {0.7%} with intestine ischemia. Abdominal Surgery and Intensive Care 2 or 1.5% died, 1 at intensive care unit and 1 at nephrology. As we know the severe condition of the patients with gastrointestinal bleeding and etiology it is very difficult to establish, we need to improve for the better conditions in our emergency center for treatment and initiation base of clinic criteria.

Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis

NARCIS (Netherlands)

Vasen, H. F.; Wijnen, J. T.; Menko, F. H.; Kleibeuker, J. H.; Taal, B. G.; Griffioen, G.; Nagengast, F. M.; Meijers-Heijboer, E. H.; Bertario, L.; Varesco, L.; Bisgaard, M. L.; Mohr, J.; Fodde, R.; Khan, P. M.

1996-01-01

Hereditary nonpolyposis colorectal cancer is characterized by early-onset colorectal cancer and the occurrence of various other cancers. The recent isolation of four mismatch repair genes responsible for hereditary nonpolyposis colorectal cancer allows for the identification of carriers within

Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis

NARCIS (Netherlands)

Vasen, HFA; Wijnen, JT; Menko, FH; Kleibeuker, JH; Taal, BG; Griffioen, G; Nagengast, FM; MeijersHeijboer, EH; Bertario, L; Varesco, L; Bisgaard, ML; Mohr, J; Fodde, R; Khan, PM

Background & Aims: Hereditary nonpolyposis colorectal cancer is characterized by early-onset colorectal cancer and the occurrence of various other cancers, The recent isolation of four mismatch repair genes responsible for hereditary nonpolyposis colorectal cancer allows for the identification of

Management of acute attacks of hereditary angioedema: potential role of icatibant

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Hilary J Longhurst

2010-09-01

Full Text Available Hilary J LonghurstDepartment of Immunology, Barts and The London NHS Trust, London, UKAbstract: Icatibant (Firazyr® is a novel subcutaneous treatment recently licensed in the European Union for acute hereditary angioedema. Hereditary angioedema, resulting from inherited partial C1 inhibitor deficiency, is a disabling condition characterized by intermittent episodes of bradykinin-mediated angioedema. Icatibant blocks bradykinin B2 receptors, attenutating the episode. Randomized double-blind, placebo-controlled trials of icatibant, showed significant superiority over oral tranexamic acid in 74 European patients and a trend to improvement in a similar US trial comparing icatibant with placebo in 55 patients. Outcomes for several endpoints did not reach significance in the US trial, perhaps because of low participant numbers and confounding factors: a further trial is planned. Open label studies have shown benefit in multiple treatments for attacks at all sites. Approximately 10% of patients require a second dose for re-emergent symptoms, usually 10 to 27 hours after the initial treatment. Its subcutaneous route of administration, good tolerability and novel mode of action make icatibant a promising addition to the limited repertoire of treatments for hereditary angioedema.Keywords: hereditary angioedema, bradykinin, icatibant, C1 inhibitor deficiency

Gastrointestinal Bleeding in Cirrhotic Patients with Portal Hypertension

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Biecker, Erwin

2013-01-01

Gastrointestinal bleeding related to portal hypertension is a serious complication in patients with liver cirrhosis. Most patients bleed from esophageal or gastric varices, but bleeding from ectopic varices or portal hypertensive gastropathy is also possible. The management of acute bleeding has changed over the last years. Patients are managed with a combination of endoscopic and pharmacologic treatment. The endoscopic treatment of choice for esophageal variceal bleeding is variceal band ligation. Bleeding from gastric varices is treated by injection with cyanoacrylate. Treatment with vasoactive drugs as well as antibiotic treatment is started before or at the time point of endoscopy. The first-line treatment for primary prophylaxis of esophageal variceal bleeding is nonselective beta blockers. Pharmacologic therapy is recommended for most patients; band ligation is an alternative in patients with contraindications for or intolerability of beta blockers. Treatment options for secondary prophylaxis include variceal band ligation, beta blockers, a combination of nitrates and beta blockers, and combination of band ligation and pharmacologic treatment. A clear superiority of one treatment over the other has not been shown. Bleeding from portal hypertensive gastropathy or ectopic varices is less common. Treatment options include beta blocker therapy, injection therapy, and interventional radiology. PMID:27335828

[The causes of recurrent ulcerative gastroduodenal bleeding].

Science.gov (United States)

Lipnitsky, E M; Alekberzade, A V; Gasanov, M R

To explore microcirculatory changes within the first 48 hours after admission, to compare them with clinical manifestations of bleeding and to define the dependence of recurrent bleeding from the therapy. The study included 108 patients with ulcerative gastroduodenal bleeding who were treated at the Clinical Hospital #71 for the period 2012-2014. There were 80 (74.1%) men and 28 (25.9%) women. Age ranged 20-87 years (mean 54.4±16.8 years). Patients younger than 45 years were predominant (33.4%). J. Forrest classification (1974) was used in endoscopic characterization of bleeding. Roccal Prognostic Scale for gastroduodenal bleeding was applied in all patients at admission to assess the risk of possible recurrence. Patients were divided into 2 groups. Group 1 included 53 (49.1%) patients without recurrent bleeding; group 2-55 (50.1%) patients who had recurrent bleeding within the first two days of treatment. Investigation of microcirculation showed the role of vegetative component including blood circulation centralization, blood flow slowing, blood cells redistribution providing sufficient blood oxygenation. By the end of the first day we observed pronounced hemodilution, decreased blood oxygenation, blood flow restructuring with its acceleration above 1 ml/s, violation of tissue oxygenation, signs of hypovolemia. These changes were significantly different from group 2 and associated with circulatory decentralization with possible pulmonary microcirculation disturbances and interstitial edema. This processes contribute to disruption of tissue oxygenation. We assume that recurrent bleeding in group 2 was caused by fluid therapy in larger volumes than it was necessary in this clinical situation. Infusion therapy should be significantly reduced for the debut of gastroduodenal ulcerative bleeding. Sedative therapy is advisable to reduce the influence of central nervous system.

Surveillance for hereditary nonpolyposis colorectal cancer: a long-term study on 114 families.

NARCIS (Netherlands)

Vos tot Nederveen Cappel, W.H. de; Nagengast, F.M.; Griffioen, G.; Menko, F.H.; Taal, B.G.; Kleibeuker, J.H.; Vasen, H.F.

2002-01-01

PURPOSE: Hereditary nonpolyposis colorectal cancer is caused by germline mutations in DNA mismatch repair genes. Mutation carriers have a 60 to 85 percent risk of developing colorectal cancer. In the Netherlands hereditary nonpolyposis colorectal cancer families are monitored in an intensive

Surveillance for hereditary nonpolyposis colorectal cancer - A long-term study on 114 families

NARCIS (Netherlands)

Cappel, WHDTN; Nagengast, FM; Griffioen, G; Menko, FH; Taal, BG; Kleibeuker, JH; Vasen, HF

2002-01-01

PURPOSE: Hereditary nonpolyposis colorectal cancer is caused by germline mutations in DNA mismatch repair genes. Mutation carriers have a 60 to 85 percent risk of developing colorectal cancer. In the Netherlands hereditary nonpolyposis colorectal cancer families are monitored in an intensive

A familial disorder with low bone density and renal phosphate wasting.

NARCIS (Netherlands)

Grondel, I.M.; Deure, J. van der; Zanen, A.L.; Dogger, M.; Heuvel, L.P.W.J. van den

2009-01-01

Hereditary forms of renal phosphate wasting have been studied thoroughly in the past years. X-linked Hypophosphatemic rickets (XLH), autosomal dominant hypophosphatemic rickets/osteomalacia (ADHR) and autosomal recessive hypophosphatemic rickets (ARHR) are known genetic disorders in which a

Male gender, school attendance and sports participation are positively associated with health-related quality of life in children and adolescents with congenital bleeding disorders.

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Limperg, P F; Joosten, M M H; Fijnvandraat, K; Peters, M; Grootenhuis, M A; Haverman, L

2018-02-08

This study assesses health-related quality of life (HRQOL), and variables associated with HRQOL, in children and adolescents with haemophilia and congenital bleeding disorders (CBD) in the Netherlands. Patients Differences and effect sizes in HRQOL compared to healthy peers, and between hemophilia severity groups, were tested using Mann Whitney U-tests. Multivariate regression analyses were performed to assess variables associated with HRQOL. Data of 145 patients (81%) were analyzed (N = 32 with severe haemophilia). Children (0-12 years) show no significant impairments in HRQOL compared to healthy peers. Adolescent boys (13-18 years) with CBD report a slightly higher HRQOL on the total and emotional functioning scales than healthy peers (small-moderate effect sizes). In contrast, adolescent girls experience lower HRQOL on total, social functioning and psychosocial health scales compared to healthy peers (moderate effect sizes). No differences between severity groups were found in HRQOL, but more problem behaviour was found in young boys (0-5 years) with severe haemophilia. Male gender, participation in sports and school attendance are positively associated with HRQOL. Parental country of birth, type of treatment and number of bleeds are not associated with HRQOL. Continuing monitoring HRQOL in daily clinical practice for children with CBD is important, since possible influencing psychosocial factors can change over time, with special focus on adolescent girls, sports participation and school absence. © 2018 John Wiley & Sons Ltd.

Bleeding prevalence and transfusion requirement in patients with thrombocytopenia in the emergency department.

Science.gov (United States)

Turvani, Fabrizio; Pigozzi, Luca; Barutta, Letizia; Pivetta, Emanuele; Pizzolato, Elisa; Morello, Fulvio; Battista, Stefania; Moiraghi, Corrado; Montrucchio, Giuseppe; Lupia, Enrico

2014-10-01

Thrombocytopenia is the most common coagulation disorder in critically ill patients. No studies have investigated the epidemiology and clinical impact of this condition in emergency department (ED) patients. We aimed to investigate epidemiological features, incidence of bleeding, and diagnostic and therapeutic requirements of patients with thrombocytopenia admitted to the ED. We performed a retrospective observational study enrolling all patients admitted to the medical-surgical ED of the "Città della Salute e della Scienza di Torino" Hospital with a platelet count <150×10(9) PLTs/L, during four non-consecutive months. There were no exclusion criteria. The study included 1218 patients. The percentage of patients with severe (<50×10(9) PLTs/L) or very severe (<20×10(9) PLTs/L) thrombocytopenia was about 12%. Thrombocytopenia associated with liver cirrhosis was the most represented etiology. On the contrary, the most frequent cause in patients with newly recognized low platelet count was disseminated intravascular coagulation/sepsis. The incidence of bleeding and hypovolemia, as well as the need of transfusional support and mechanical, surgical or endoscopic hemostasis progressively increased with the severity of thrombocytopenia. Our results suggest that the detection of a platelet count lower than 50×10(9) PLTs/L may help to identify patients with higher bleeding risk in the ED setting. Additional studies are required to evaluate whether, in this setting, thrombocytopenia may represent an independent risk factor for bleeding episodes and increased mortality.

Transcatheter arterial embolization for traumatic bleeding control

International Nuclear Information System (INIS)

Ryu, Choon Wook; Lee, Sang Kwon; Suh, Kyung Jin; Kim, Tae Heon; Kim, Yong Joo; Kang, Duck Sik

1989-01-01

Angiography is essential for the detection of bleeding vessels in traumatic vascular injury. Immediately after the diagnosis, transcatheter embolization can be performed for the control of bleeding effectively and easily with proper use of embolic materials. Transcatheter embolization is believed to be the treatment of choice when emergency control is needed, where surgical approach is difficult and in those who are poor candidate for surgery. We have tried bleeding control in 18 cases of trauma over recent 4 years. The results were as follows; 1. Causes of bleeding(cases): Blunt or penetrating trauma (10), latrogenic trauma (8), (Postoperative (5), Needle biopsy (2), Percutaneous hepatic procedure (1)) 2. Embolized vessels: Renal artery branches (8), Hepatic artery branches (2), Arteries supplying chest wall (2), External carotid artery branches (3), Internal carotid artery (1), Circumflex humeral artery (1), Internal iliac artery branches (1). 3. Embolic agents: Gelfoam cubes (16), Stainless steel coils (3), Detachable latex balloon (1). 4. Successful bleeding control was achieved in 17 cases and reduction of the amount of bleeding in one case without significant complications

Transcatheter emboilization therapy of massive colonic bleeding

International Nuclear Information System (INIS)

Shin, G. H.; Oh, J. H.; Yoon, Y.

1996-01-01

To evaulate the efficacy and safety of emergent superselective transcatheter embolization for controlling massive colonic bleeding. Six of the seven patients who had symptom of massive gastrointestinal bleeding underwent emergent transcatheter embolization for control of the bleeding. Gastrointestinal bleeding in these patients was originated from various colonic diseases: rectal cancer(n=1), proctitis(n=1), benign ulcer(n=1), mucosal injury by ventriculoperitoneal shunt(n=1), and unknown(n=2). All patients except one with rectal cancer were critically ill. Superselective embolization were done by using Gelfoam particles and/or coils. The vessels embolized were ileocolic artery(n=1). superior rectal artery(n=2), inferior rectal artery (n=1), and middle and inferior rectal arteries(n=1). Hemostasis was successful immediately in all patients. Two underwnet surgery due to recurrent bleeding developed 3 days after the procedure(n=1) or in associalion with underlying rectal cancer(n=1). On surgical specimen of two cases, there was no mucosal ischemic change. Transcatheter embolization is a safe and effective treatment of method for the control of massive colonic bleeding

ENDOSCOPIC DIAGNOSIS AND TREATMENT OF UPPER GASTROINTESTINAL BLEEDING

Directory of Open Access Journals (Sweden)

Daniela Benedeto-Stojanov

2015-06-01

Full Text Available Upper gastrointestinal bleeding (UGB is a common medical emergency problem with significant morbidity and mortality. The aim of this paper is to establish the incidence of upper gastrointestinal bleeding in relation to sex and age, determine the prevalence of bleeding lesions and perform analysis of bleeding peptic ulcer in relation to the location, age, gender, Forrest classification and the need for endoscopic hemostasis. Thе prospective study included 70 patients with UGB, 42 men and 28 women, mean age 68.64±13.66 years. The diagnosis of bleeding lesions was made exclusively by means of esophagogastroduodenoscopy. Forrest classification was used in the evaluation of the activity of bleeding ulcers of the stomach and duodenum. The largest number of bleeding patients was of male sex (60%. Bleeding most commonly occurred in patients older than 60 years (84.29%. Statistically, female patients were significantly older than patients of male gender (p=0.001. The most common cause of bleeding was peptic ulcer (65.71%. The average age of patients with gastric ulcer was 70.57±15.68 years, with a duodenal ulcer 63.78±16.70 years. In the duodenum, Forrest Ib, IIa and IIb ulcers were usually confirmed, whereas Forrest IIc ulcers were identified in the stomach. Endoscopic hemostasis was required in 55.56% of patients with duodenal and in 23.81% of patients with gastric ulcer. The incidence of UGB is higher in men and it increases with age. The most common cause of bleeding is ulcer disease. Patients with gastric ulcer are older than patients with duodenal ulcer, while both gastric and duodenal ulcers are found in the oldest patients. Duodenal ulcers cause serious bleeding and more often require endoscopic hemostasis.

The tumour spectrum in hereditary non-polyposis colorectal cancer: a study of 24 kindreds in the Netherlands

NARCIS (Netherlands)

Vasen, H. F.; Offerhaus, G. J.; den Hartog Jager, F. C.; Menko, F. H.; Nagengast, F. M.; Griffioen, G.; van Hogezand, R. B.; Heintz, A. P.

1990-01-01

The hereditary colonic cancer syndrome without polyposis, hereditary non-polyposis colorectal cancer (HNPCC), is usually divided into 2 main categories: hereditary site-specific colorectal cancer (Lynch syndrome I) and colorectal cancer in association with other forms of cancer (Lynch syndrome II).

Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies

Science.gov (United States)

2018-03-21

Congenital Fibrosis of Extraocular Muscles; Duane Retraction Syndrome; Duane Radial Ray Syndrome; Mobius Syndrome; Brown Syndrome; Marcus Gunn Syndrome; Strabismus Congenital; Horizontal Gaze Palsy; Horizontal Gaze Palsy With Progressive Scoliosis; Facial Palsy; Facial Paresis, Hereditary, Congenital; Third Nerve Palsy; Fourth Nerve Palsy; Sixth Nerve Palsy; Synkinesis; Ocular Motility Disorders; Levator-Medial Rectus Synkinesis; Athabaskan Brainstem Dysgenesis; Tongue Paralysis; Ninth Nerve Disorder; Fifth Nerve Palsy; Seventh Nerve Palsy; Eleventh Nerve Disorder; Twelfth Nerve Disorder; Vagus Nerve Paralysis; Moebius Sequence

[The progress and prospect of application of genetic testing technology-based gene detection technology in the diagnosis and treatment of hereditary cancer].

Science.gov (United States)

He, J X; Jiang, Y F

2017-08-06

Hereditary cancer is caused by specific pathogenic gene mutations. Early detection and early intervention are the most effective ways to prevent and control hereditary cancer. High-throughput sequencing based genetic testing technology (NGS) breaks through the restrictions of pedigree analysis, provide a convenient and efficient method to detect and diagnose hereditary cancer. Here, we introduce the mechanism of hereditary cancer, summarize, discuss and prospect the application of NGS and other genetic tests in the diagnosis of hereditary retinoblastoma, hereditary breast and ovarian cancer syndrome, hereditary colorectal cancer and other complex and rare hereditary tumors.

2010 International consensus algorithm for the diagnosis, therapy and management of hereditary angioedema

DEFF Research Database (Denmark)

Bowen, Tom; Cicardi, Marco; Farkas, Henriette

2010-01-01

ABSTRACT: BACKGROUND: We published the Canadian 2003 International Consensus Algorithm for the Diagnosis, Therapy, and Management of Hereditary Angioedema (HAE; C1 inhibitor [C1-INH] deficiency) and updated this as Hereditary angioedema: a current state-of-the-art review: Canadian Hungarian 2007 ...

Estimation of EuroQol 5-Dimensions health status utility values in hereditary angioedema

DEFF Research Database (Denmark)

Aygören-Pürsün, Emel; Bygum, Anette; Beusterien, Kathleen

2016-01-01

OBJECTIVE: To estimate health status utility (preference) weights for hereditary angioedema (HAE) during an attack and between attacks using data from the Hereditary Angioedema Burden of Illness Study in Europe (HAE-BOIS-Europe) survey. Utility measures quantitatively describe the net impact of a...

Managing Chemotherapy Side Effects: Bleeding Problems

Science.gov (United States)

... C ancer I nstitute Managing Chemotherapy Side Effects Bleeding Problems “My nurse said that chemotherapy could make ... with a clean cloth. Keep pressing until the bleeding stops. If you bruise: Put ice on the ...

Molecular, Phenotypic Aspects and Therapeutic Horizons of Rare Genetic Bone Disorders

Directory of Open Access Journals (Sweden)

Taha Faruqi

2014-01-01

Full Text Available A rare disease afflicts less than 200,000 individuals, according to the National Organization for Rare Diseases (NORD of the United States. Over 6,000 rare disorders affect approximately 1 in 10 Americans. Rare genetic bone disorders remain the major causes of disability in US patients. These rare bone disorders also represent a therapeutic challenge for clinicians, due to lack of understanding of underlying mechanisms. This systematic review explored current literature on therapeutic directions for the following rare genetic bone disorders: fibrous dysplasia, Gorham-Stout syndrome, fibrodysplasia ossificans progressiva, melorheostosis, multiple hereditary exostosis, osteogenesis imperfecta, craniometaphyseal dysplasia, achondroplasia, and hypophosphatasia. The disease mechanisms of Gorham-Stout disease, melorheostosis, and multiple hereditary exostosis are not fully elucidated. Inhibitors of the ACVR1/ALK2 pathway may serve as possible therapeutic intervention for FOP. The use of bisphosphonates and IL-6 inhibitors has been explored to be useful in the treatment of fibrous dysplasia, but more research is warranted. Cell therapy, bisphosphonate polytherapy, and human growth hormone may avert the pathology in osteogenesis imperfecta, but further studies are needed. There are still no current effective treatments for these bone disorders; however, significant promising advances in therapeutic modalities were developed that will limit patient suffering and treat their skeletal disabilities.

Bleeding in cancer patients and its treatment: a review.

Science.gov (United States)

Johnstone, Candice; Rich, Shayna E

2017-12-18

Bleeding is a common problem in cancer patients, related to local tumor invasion, tumor angiogenesis, systemic effects of the cancer, or anti-cancer treatments. Existing bleeds can also be exacerbated by medications such as bevacizumab, nonsteroidal anti-inflammatory drugs (NSAIDs), and anticoagulants. Patients may develop acute catastrophic bleeding, episodic major bleeding, or low-volume oozing. Bleeding may present as bruising, petechiae, epistaxis, hemoptysis, hematemesis, hematochezia, melena, hematuria, or vaginal bleeding. Therapeutic intervention for bleeding should start by establishing goals of care, and treatment choice should be guided by life expectancy and quality of life. Careful thought should be given to discontinuation of medications and reversal of anticoagulation. Interventions to stop or slow bleeding may include systemic agents or transfusion of blood products. Noninvasive local treatment options include applied pressure, dressings, packing, and radiation therapy. Invasive local treatments include percutaneous embolization, endoscopic procedures, and surgical treatment.

Genetic disorders of thyroid metabolism and brain development

Science.gov (United States)

Kurian, Manju A; Jungbluth, Heinz

2014-01-01

Normal thyroid metabolism is essential for human development, including the formation and functioning of the central and peripheral nervous system. Disorders of thyroid metabolism are increasingly recognized within the spectrum of paediatric neurological disorders. Both hypothyroid and hyperthyroid disease states (resulting from genetic and acquired aetiologies) can lead to characteristic neurological syndromes, with cognitive delay, extrapyramidal movement disorders, neuropsychiatric symptoms, and neuromuscular manifestations. In this review, the neurological manifestations of genetic disorders of thyroid metabolism are outlined, with particular focus on Allan-Herndon-Dudley syndrome and benign hereditary chorea. We report in detail the clinical features, major neurological and neuropsychiatric manifestations, molecular genetic findings, disease mechanisms, and therapeutic strategies for these emerging genetic ‘brain-thyroid’ disorders. PMID:24665922

Hereditary motor and autonomic neuronopathy 1 maps to chromosome 20q13.2-13.3

Directory of Open Access Journals (Sweden)

W. Marques Jr.

2004-11-01

Full Text Available The spinal muscular atrophies (SMA or hereditary motor neuronopathies result from the continuous degeneration and death of spinal cord lower motor neurons, leading to progressive muscular weakness and atrophy. We describe a large Brazilian family exhibiting an extremely rare, late-onset, dominant, proximal, and progressive SMA accompanied by very unusual manifestations, such as an abnormal sweating pattern, and gastrointestinal and sexual dysfunctions, suggesting concomitant involvement of the autonomic nervous system. We propose a new disease category for this disorder, `hereditary motor and autonomic neuronopathy', and attribute the term, `survival of motor and autonomic neurons 1' (SMAN1 to the respective locus that was mapped to a 14.5 cM region on chromosome 20q13.2-13.3 by genetic linkage analysis and haplotype studies using microsatellite polymorphic markers. This locus lies between markers D20S120 and D20S173 showing a maximum LOD score of 4.6 at D20S171, defining a region with 33 known genes, including several potential candidates. Identifying the SMAN1 gene should not only improve our understanding of the molecular mechanisms underlying lower motor neuron diseases but also help to clarify the relationship between motor and autonomic neurons.

Hereditary cerebral hemorrhage with amyloidosis in patients of Dutch origin is related to Alzheimer disease

International Nuclear Information System (INIS)

van Duinen, S.G.; Castano, E.M.; Prelli, F.; Bots, G.T.A.B.; Luyendijk, W.; Frangione, B.

1987-01-01

Hereditary cerebral hemorrhage with amyloidosis in Dutch patients is an autosomal dominant form of vascular amyloidosis restricted to the leptomeninges and cerebral cortex. Clinically the disease is characterized by cerebral hemorrhages leading to an early death. Immunohistochemical studies of five patients revealed that the vascular amyloid deposits reacted intensely with an antiserum raised against a synthetic peptide homologous to the Alzheimer disease-related β-protein. Silver stain-positive, senile plaque-like structures were also labeled by the antiserum, yet these lesions lacked the dense amyloid cores present in typical plaques of Alzheimer disease. No neurofibrillary tangles were present. Amyloid fibrils were purified from the leptomeningeal vessels of one patient who clinically had no signs of dementia. The protein had a molecular weight of ∼ 4000 and its partial amino acid sequence to position 21 showed homology to the β-protein of Alzheimer disease and Down syndrome. These results suggest that hereditary cerebral hemorrhage with amyloidosis of Dutch origin is pathogenetically related to Alzheimer disease and support the concept that the initial amyloid deposition in this disorder occurs in the vessel walls before damaging the brain parenchyma. Thus, deposition of β-protein in brain tissue seems to be related to a spectrum of diseases involving vascular syndromes, progressive dementia, or both

Postpolypectomy lower GI bleeding: descriptive analysis

NARCIS (Netherlands)

Sorbi, D.; Norton, I.; Conio, M.; Balm, R.; Zinsmeister, A.; Gostout, C. J.

2000-01-01

BACKGROUND: Postpolypectomy hemorrhage may warrant intensive care monitoring, transfusions, and surgery. We sought factors predicting significant bleeding requiring blood transfusion and the benefits of critical care monitoring. METHODS: Patients with postpolypectomy bleeding between April 1989 and

What to do when she's bleeding through: the recognition, evaluation, and management of abnormal uterine bleeding in adolescents.

Science.gov (United States)

Bennett, Alyssa R; Gray, Susan H

2014-08-01

This article reviews the current understanding and management of abnormal uterine bleeding (AUB) in adolescents. The readers will learn a practical approach to the evaluation and treatment of mild-to-severe uterine bleeding. In 2011, a new classification system was proposed to standardize the terminology used to describe AUB. This system is based on the pattern and etiology of bleeding and has been adopted by other organizations. The term dysfunctional uterine bleeding has been replaced by AUB. The negative effect of AUB on adolescents' quality of life is now well established. The levonorgestrel-releasing intrauterine system is considered a first-line treatment for heavy menstrual bleeding and should be considered, especially in those adolescents who may also need contraception. AUB is a common adolescent complaint that can vary from mild to life-threatening if not recognized and treated promptly. This article reviews the appropriate assessment and management of AUB and proposes a practical algorithm that can be used in an office or hospital setting.

Scintigraphic demonstration of acute gastrointestinal bleeding

Energy Technology Data Exchange (ETDEWEB)

Alavi, A.

1980-01-01

Acute gastrointestinal bleeding may be localized using noninvasive radionuclide methods. We have favored the use of technetium-99m sulfur colloid with sequential imaging because of the rapid clearance of background activity. Definition of the site of upper gastrointestinal bleeding, however, may be obscured by intense uptake of radioactivity by liver and spleen. The sensitivity of the method is such that the bleeding rates of 0.05-0.1 ml/min can be detected compared to a sensitivity of 0.5 ml/min for angiography.

Intragenic Duplication A Novel Mutational Mechanism in Hereditary Pancreatitis

DEFF Research Database (Denmark)

Joergensen, M. T.; Geisz, A.; Brusgaard, K.

2011-01-01

OBJECTIVES: In a hereditary pancreatitis family from Denmark, we identified a novel intragenic duplication of 9 nucleotides in exon-2 of the human cationic trypsinogen (PRSS1) gene (c.63_71dup) which at the amino-acid level resulted in the insertion of 3 amino acids within the activation peptide...... pancreatitis. The accelerated activation of p.K23_I24insIDK by cathepsin B is a unique biochemical property not found in any other pancreatitis-associated trypsinogen mutant. In contrast, the robust autoactivation of the novel mutant confirms the notion that increased autoactivation is a disease......-relevant mechanism in hereditary pancreatitis....

Dysphonia and vocal fold telangiectasia in hereditary hemorrhagic telangiectasia.

Science.gov (United States)

Chang, Joseph; Yung, Katherine C

2014-11-01

This case report is the first documentation of dysphonia and vocal fold telangiectasia as a complication of hereditary hemorrhagic telangiectasia (HHT). Case report of a 40-year-old man with HHT presenting with 2 years of worsening hoarseness. Hoarseness corresponded with a period of anticoagulation. Endoscopy revealed vocal fold scarring, vocal fold telangiectasias, and plica ventricular is suggestive of previous submucosal vocal fold hemorrhage and subsequent counterproductive compensation with ventricular phonation. Hereditary hemorrhagic telangiectasia may present as dysphonia with vocal fold telangiectasias and place patients at risk of vocal fold hemorrhage. © The Author(s) 2014.

Iron Deficiency without Anemia: A Common Yet Under-Recognized Diagnosis in Young Women with Heavy Menstrual Bleeding.

Science.gov (United States)

Johnson, Stephen; Lang, Abigail; Sturm, Mollie; O'Brien, Sarah H

2016-12-01

To assess the proportion of iron deficiency that is not detected with a screening hemoglobin or complete blood count (CBC) alone in young women with heavy menstrual bleeding. Retrospective review of electronic medical records. Nationwide Children's Hospital in Columbus, Ohio. One hundred fourteen young women aged 9-19 years consecutively referred to a young women's hematology clinic with a complaint of heavy menstrual bleeding. Fifty-eight (50.9%) of all patients had ferritin iron deficiency. Of the 58 patients with iron deficiency, only 24 (41.4%) were anemic and 25 (46.3%) were microcytic. The sensitivity of hemoglobin alone and CBC alone for identifying women with ferritin iron deficiency if they were overweight or obese (odds ratio, 2.81; 95% CI, 1.25-6.29) compared with patients with normal body mass index. Age at presentation for heavy menstrual bleeding, presence of an underlying bleeding disorder, and median household income were not significantly associated with iron deficiency. In adolescents with heavy menstrual bleeding, fewer than half of iron deficiency cases are detected when screening is performed with hemoglobin or blood count alone. Measuring ferritin levels in at-risk patients might allow for earlier implementation of iron therapy and improvement in symptoms. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Abnormal Uterine Bleeding: American College of Nurse-Midwives.

Science.gov (United States)

2016-07-01

Variations in uterine bleeding, termed abnormal uterine bleeding, occur commonly among women and often are physiologic in nature with no significant consequences. However, abnormal uterine bleeding can cause significant distress to women or may signify an underlying pathologic condition. Most women experience variations in menstrual and perimenstrual bleeding in their lifetimes; therefore, the ability of the midwife to differentiate between normal and abnormal bleeding is a key diagnostic skill. A comprehensive history and use of the PALM-COEIN classification system will provide clear guidelines for clinical management, evidence-based treatment, and an individualized plan of care. The purpose of this Clinical Bulletin is to define and describe classifications of abnormal uterine bleeding, review updated terminology, and identify methods of assessment and treatment using a woman-centered approach. © 2016 by the American College of Nurse-Midwives.

[Obsessive-compulsive disorder. A hidden disorder].

Science.gov (United States)

Haraldsson, Magnús

2015-02-01

Obsessive-compulsive disorder is a common and often chronic psychiatric illness that significantly interferes with the patient´s functioning and quality of life. The disorder is characterized by excessive intrusive and inappropriate anxiety evoking thoughts as well as time consuming compulsions that cause significant impairment and distress. The symptoms are often accompanied by shame and guilt and the knowledge of the general public and professional community about the disorder is limited. Hence it is frequently misdiagnosed or diagnosed late. There are indications that the disorder is hereditary and that neurobiological processes are involved in its pathophysiology. Several psychological theories about the causes of obsessive-compulsive disorder are supported by empirical evidence. Evidence based treatment is either with serotoninergic medications or cognitive behavioral therapy, particularly a form of behavioral therapy called exposure response prevention. Better treatment options are needed because almost a third of people with obsessive-compulsive disorder respond inadequatly to treatment. In this review article two cases of obsessive-compulsive disorder are presented. The former case is a young man with typical symptoms that respond well to treatment and the latter is a middle aged lady with severe treatment resistant symptoms. She underwent stereotactic implantation of electrodes and received deep brain stimulation, which is an experimental treatment for severe obsessive-compulsive disorder that does not respond to any conventional treatment. Landspitali University Hospital, Division of Psychiatry. Faculty of Medicine, University of Iceland.