scholarly journals Defining the molecular pathology and consequent phenotypes in Egyptian HB patients

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Ghada Y. El-Kamah ◽  
Rehab M. Mosaad ◽  
Mohamed B. Taher ◽  
Khalda S. Amr
Keyword(s):  
Genetic Counseling ◽  
Molecular Analysis ◽  
Clinical Data ◽  
Molecular Pathology ◽  
Hemophilia B ◽  
Nonsense Mutations ◽  
Carrier Mother ◽  
Egyptian Patients ◽  
History Of ◽  
Decision Taking

Abstract Background Hemophilia B (HB) (also known as Christmas disease) is a rare X-linked recessive disorder characterized by spontaneous or prolonged hemorrhages caused by mutations in Factor 9 (F9) gene leading to deficient or defective coagulation F9. Our study aimed at identifying the causative mutations within a sample of HB Egyptian patients. The present study comprised clinical data of eleven HB patients descending from six unrelated families and a seventh family including a carrier mother with a history of deceased HB sibling. Sequencing of F9 gene was performed. Results The study revealed four mutations; two missense NM_000133.3:c.676C>G, (P.Arg226Gly) and NM_000133.3:c.1305T>G, (p.Cys435Trp), and two nonsense mutations NM_000133.3:c.880C>T, (p.Arg294*) and NM_000133.3:c.1150C>T, (p.Arg384*), identified mutations spanned exons 6 and 8 of which a total of three mutations are located in hotspot exon 8 of F9 gene. Conclusions Reviewing the literature, this is the first molecular analysis of F9 gene in HB Egyptian patients. Consistent genotype/phenotypic severity correlation could be concluded, helping proper genetic counseling and prenatal decision taking.

scholarly journals Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations

2012 ◽  
Vol 33 (9) ◽  
pp. 1373-1376 ◽  
Author(s):  
Mirko Pinotti ◽  
Pierpaolo Caruso ◽  
Alessandro Canella ◽  
Matteo Campioni ◽  
Giuseppe Tagariello ◽  
...  
Keyword(s):  
Factor Ix ◽  
Full Length ◽  
Hemophilia B ◽  
Nonsense Mutations

Hemophilia B (Christmas Disease) in a Female

PEDIATRICS ◽  
1969 ◽  
Vol 44 (2) ◽  
pp. 268-271
Author(s):  
Herbert S. Strauss ◽  
Sandra L. Olson
Keyword(s):  
Hemophilia B ◽  
Carrier Mother

A case of hemophilia B in a girl, who is the product of a marriage between a hemophilic father and a probable carrier mother, who are first cousins, is described.

Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants

2021 ◽  
Author(s):  
Neha Agrawal ◽  
Ravi Kumar ◽  
Suzena Masih ◽  
Priyanka Srivastava ◽  
Parshw Singh ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Hemophilia B ◽  
Severe Hemophilia ◽  
Novel Variants

A case report of sudden epileptic death linked to thermal water after mud therapy

2020 ◽  
Vol 88 (1) ◽  
pp. 44-47
Author(s):  
Sanavio Matteo ◽  
Saladini Marina ◽  
Favretto Donata ◽  
Snenghi Rossella
Keyword(s):  
Case Report ◽  
Clinical Data ◽  
Thermal Water ◽  
Toxicological Analysis ◽  
Antiepileptic Therapy ◽  
History Of ◽  
Mud Therapy ◽  
History Of Epilepsy ◽  
Medical Indications ◽  
Patients With Epilepsy

We present the case of a 60-year-old male, with a long history of epilepsy, who was discovered submerged and unconscious in a small thermal whirlpool bath. The circumstances were forensically reviewed to include examination of clinical data and an autopsy with toxicological analysis. The conclusion was that “warm” hydro-therapy had contributed more than “hot” mud-therapy to the onset of epilepsy which led to accidental drowning, notwithstanding the deceased’s treatment with the long-lasting, poly-drug antiepileptic therapy. Further, we analysed the Italian medical indications of wellness centres for patients with epilepsy or other diseases.

scholarly journals Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A

2020 ◽  
Vol 45 (6) ◽  
pp. 789-792
Author(s):  
M. S. Abd Elmaksoud ◽  
N. S. Gomaa ◽  
H. G. Azouz ◽  
C. N. V. On ◽  
C. T. Ho ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Syndrome Type ◽  
Nonsense Mutations ◽  
Egyptian Patients ◽  
Griscelli Syndrome

Rates and profile of victimization in a sample of Egyptian patients with major mental illness

2019 ◽  
Vol 65 (3) ◽  
pp. 183-193 ◽  
Author(s):  
Ahmed El Missiry ◽  
Marwa Abd El Meguid ◽  
Ahmed Abourayah ◽  
Marwa El Missiry ◽  
Mohamed Hossam ◽  
...  
Keyword(s):  
Mental Illness ◽  
Rural Areas ◽  
Global Assessment Of Functioning ◽  
Personal Issue ◽  
Demographic Questionnaire ◽  
Increased Risk ◽  
Egyptian Patients ◽  
History Of ◽  
Study Population ◽  
Axis I

Background: Patients with major mental illness have an increased risk of victimization. Nevertheless, this topic was not thoroughly studied in Egyptian patients with major mental illness. Objectives: The objectives of this study are to investigate the rates of victimization and understand its profile, psycho-demographic and clinical correlates among a sample of Egyptian patients with major mental illness. Participants and Methods: A total of 300 patients (100 patients with schizophrenia, 100 with bipolar and 100 with major depression) were recruited from the inpatient wards and outpatient clinics at Ain Shams University. They were subjected to a demographic questionnaire, the Structured Clinical Interview for DSM-IV Axis I Disorders (SCID-I), Global Assessment of Functioning (GAF), Clinical Global Impression (CGI) and a Victimization Questionnaire (VQ). Results: In our study population, 130 (43.3%) of patients were victimized, of them 52 (40%) were diagnosed with major depressive disorder, 48 (36.9%) with bipolar disorder and 30 (23.1%) with schizophrenia. Victimization was more in female, married, unemployed individuals and those living in rural areas. Patients exposed to domestic violence or abuse during childhood had higher rates of victimization. All victimized patients were subjected to emotional victimization, 64.6% were physically victimized and 53.8% were subjected to miscellaneous types of victimization. Patients were victimized mainly by acquaintance followed by family members. The majority of patients did not report their victimization and considered it as a personal issue or not important enough to be reported. Conclusion: Patients with major mental illness are susceptible to significant victimization. Clinicians should explore possible history of abuse or victimization in their patients, empower and support the victimized ones.

Genetic counseling and molecular analysis of muscular dystrophy families in Israel

1997 ◽  
Vol 7 (6-7) ◽  
pp. 434
Author(s):  
Cyril Legum ◽  
Avi Orr-Urtreger ◽  
Adi Ben Yehuda ◽  
Chedva Perek ◽  
Sigal Tsabari ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Muscular Dystrophy ◽  
Molecular Analysis

Inter-Generational Transmission of Incest

1982 ◽  
Vol 27 (3) ◽  
pp. 231-235 ◽  
Author(s):  
Ingrid Cooper ◽  
Bruno M. Cormier
Keyword(s):  
Clinical Data ◽  
Sexual Relations ◽  
Three Generations ◽  
Clinical Literature ◽  
Generational Transmission ◽  
History Of

The majority of reported incest cases involve sexual relations between one generation and another, the most common being father-daughter incest. The increased availability of clinical data on incest has revealed an aspect of the problem that has received little attention in clinical literature. Incest can involve three generations in a family rather than two. It is possible for incest to be “transmitted” from one generation to the next through several patterns. In some cases, the mother in a family of father-daughter incest has herself been a victim of incest with her own father. With a history of unresolved incest with their own fathers, these women are unable to prevent an incest relationship between their husbands and daughters. Another pattern involves situations where the father in the father-daughter incest relationship has been the victim of father-son incest in his youth. The psychodynamics of these patterns of inter-generational transmission of incest are described, with clinical examples from the authors’ work, as well as from the literature.

Advanced Genetic Counseling

2019 ◽  
Author(s):  
Barbara B. Biesecker ◽  
Kathryn F. Peters ◽  
Robert Resta
Keyword(s):  
Genetic Counseling ◽  
Clinical Skills ◽  
Counseling Students ◽  
Theory And Practice ◽  
Health Perceptions ◽  
Client Outcomes ◽  
Counseling Relationship ◽  
Counseling Theory ◽  
History Of ◽  
Client Needs

Advanced Genetic Counseling: Theory and Practice addresses educational objectives for second-year genetic counseling students. Building on mastery of genetics principles and baseline clinical skills, this comprehensive textbook begins with the history of the profession as it relates to current practice definitions and goals. Characteristics of clients and counselors that may affect the counseling relationship are presented to guide strategies for achieving positive client outcomes. Throughout the text, a psychotherapeutic counseling approach is advocated. Steps to establishing a therapeutic alliance are outlined and the elements of relational counseling emphasized. The psychological counseling theories presented will help counselors identify interventions to address client needs. Students are encouraged to pursue research to address gaps in evidence needed to guide practice. Health behavior and social psychology theories offer models to assess health perceptions and behaviors. The book concludes with a look toward the future of genetic counseling in the genomics era.

scholarly journals Use of a BamHI polymorphism in the factor IX gene for the determination of hemophilia B carrier status

Blood ◽  
1986 ◽  
Vol 67 (5) ◽  
pp. 1508-1511 ◽  
Author(s):  
CW Hay ◽  
KA Robertson ◽  
SL Yong ◽  
AR Thompson ◽  
GH Growe ◽  
...  
Keyword(s):  
Human Factor ◽  
Factor Ix ◽  
Hemophilia B ◽  
Carrier Status ◽  
X Chromosomes ◽  
Human Factor Ix ◽  
History Of

Abstract A BamHI polymorphism has been identified in the human factor IX gene. This polymorphism, which occurs in approximately 6% of X chromosomes, has been used to determine the carrier status of a female in a family with a history of hemophilia B. This family was uninformative for the previously reported TaqI and Xmnl polymorphisms in the factor IX gene.

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