scholarly journals Premarital genetic investigations: effect of genetic counselling

2000 ◽  
Vol 6 (4) ◽  
pp. 652-660
Author(s):  
N. Abdel Meguid ◽  
M. S. Zaki ◽  
S. A. Hammad
Keyword(s):  
Genetic Counselling ◽  
Chromosomal Abnormalities ◽  
Genetic Disorders ◽  
Consanguineous Marriage ◽  
Research Centre ◽  
Essential Step ◽  
History Of ◽  
Normal Offspring ◽  
Changing Attitudes

Over a period of 2 years, 86 couples (172 cases) were referred to the genetics clinic of the National Research Centre for premarital genetic counselling. About 73.25% had a family history of different genetic disorders. Consanguinity was found in 86.04%. Genetic investigations revealed chromosomal abnormalities in 26 cases [15.11%]; 23 cases (13.37%) had other abnormal results. After genetic counselling, postconceptional follow-up was carried out for 30 couples; 10 of them required amniocentesis that showed abnormal fetuses in 2 mothers. Other couples had normal offspring. We conclude that premarital genetic counselling is of great use in the detection of genetic disorders and is an essential step in changing attitudes towards premarital testing and reducing consanguineous marriage

scholarly journals Predictors of cerebrovascular event reoccurrence in patients with depression: a retrospective cohort study

BMJ Open ◽  
2020 ◽  
Vol 10 (1) ◽  
pp. e031927 ◽  
Author(s):  
Wa Cai ◽  
Christoph Mueller ◽  
Hitesh Shetty ◽  
Gayan Perera ◽  
Robert Stewart
Keyword(s):  
Mental Health ◽  
Physical Health ◽  
Cox Regression ◽  
Previous History ◽  
Research Centre ◽  
Cerebrovascular Event ◽  
Case Register ◽  
Physical Health Problems ◽  
History Of

ObjectivesTo identify predictors of recurrent cerebrovascular morbidity in a cohort of patients with depression and a cerebrovascular disease (CBVD) history.MethodsWe used the Maudsley Biomedical Research Centre Case Register to identify patients aged 50 years or older with a diagnosis of depressive disorder between 2008 and 2017 and a previous history of hospitalised CBVD. Using depression diagnosis as the index date we followed patients until first hospitalised CBVD recurrence or death due to CBVD. Sociodemographic data, symptom and functioning scores of Health of the Nation Outcome Scales, medications and comorbidities were extracted and modelled in multivariate survival analyses to identify predictors of CBVD reoccurrence.ResultsOf 1292 patients with depression and CBVD (mean age 75.6 years; 56.6% female), 264 (20.4%) experienced fatal/non-fatal CBVD recurrence during a median follow-up duration of 1.66 years. In multivariate Cox regression models, a higher risk of CBVD recurrence was predicted by older age (HR, 1.02; 95% CI, 1.01 to 1.04) (p=0.002), physical health problems (moderate to severe HR, 2.47; 95% CI, 1.45 to 4.19) (p=0.001), anticoagulant (HR, 1.40; 95% CI, 1.01 to 1.93) (p=0.041) and antipsychotic medication (HR, 0.66; 95% CI 0.44 to 0.99) (p=0.047). Neither depression severity, mental health symptoms, functional status, nor antidepressant prescribing were significantly associated with CBVD recurrence.ConclusionsApproximately one in five patients with depression and CBVD experienced a CBVD recurrence over a median follow-up time of 20 months. Risk of CBVD recurrence was largely dependent on age and physical health rather than on severity of depressive symptoms, co-morbid mental health or functional problems, or psychotropic prescribing.

scholarly journals Advanced forms of MPNs are accompanied by chromosomal abnormalities that lead to dysregulation of TP53

2018 ◽  
Vol 2 (24) ◽  
pp. 3581-3589 ◽  
Author(s):  
Bridget K. Marcellino ◽  
Ronald Hoffman ◽  
Joseph Tripodi ◽  
Min Lu ◽  
Heidi Kosiorek ◽  
...  
Keyword(s):  
Disease Progression ◽  
Chromosomal Abnormalities ◽  
Myeloproliferative Neoplasms ◽  
Philadelphia Chromosome ◽  
Primary Myelofibrosis ◽  
Chromosome 17 ◽  
Transcript Levels ◽  
History Of ◽  
Tumor Protein P53

Abstract The Philadelphia chromosome–negative myeloproliferative neoplasms (MPNs), including polycythemia vera (PV), essential thrombocythemia (ET), and the prefibrotic form of primary myelofibrosis (PMF), frequently progress to more overt forms of MF and a type of acute leukemia termed MPN-accelerated phase/blast phase (MPN-AP/BP). Recent evidence indicates that dysregulation of the tumor suppressor tumor protein p53 (TP53) commonly occurs in the MPNs. The proteins MDM2 and MDM4 alter the cellular levels of TP53. We investigated in 1,294 patients whether abnormalities involving chromosomes 1 and 12, which harbor the genes for MDM4 and MDM2, respectively, and chromosome 17, where the gene for TP53 is located, are associated with MPN disease progression. Gain of 1q occurred not only in individuals with MPN-BP but also in patients with PV and ET, who, with further follow-up, eventually evolve to either MF and/or MPN-BP. These gains of 1q were most prevalent in patients with a history of PV and those who possessed the JAK2V617F driver mutation. The gains of 1q were accompanied by increased transcript levels of MDM4. In contrast, 12q chromosomal abnormalities were exclusively detected in patients who presented with MF or MPN-BP, but were not accompanied by further increases in MDM2/MDM4 transcript levels. Furthermore, all patients with a loss of 17p13, which leads to a deletion of TP53, had either MF or MPN-AP/BP. These findings suggest that gain of 1q, as well as deletions of 17p, are associated with perturbations of the TP53 pathway, which contribute to MPN disease progression.

IS CONSANGUINEOUS MARRIAGE RELIGIOUSLY ENCOURAGED? ISLAMIC AND IRANIAN CONSIDERATIONS

2006 ◽  
Vol 39 (2) ◽  
pp. 313-316 ◽  
Author(s):  
SEYED MOHAMMAD AKRAMI ◽  
ZAHRA OSATI
Keyword(s):  
Mass Media ◽  
Genetic Counselling ◽  
Public Awareness ◽  
Genetic Disorders ◽  
Causative Factor ◽  
Consanguineous Marriage ◽  
High Rate ◽  
Medical Professionals ◽  
Cousin Marriage ◽  
Muslim Population

Summary.Consanguineous marriage has had considerable attention as a causative factor in the prevalence of genetic disorders. Iran, with its majority Muslim population, has a high rate of consanguineous marriage. In Iranian tradition, first cousin marriage is an acceptable and appreciated custom. However, there seems to be no encouragement of consanguineous marriage in the Islamic context; it is merely mentioned as a traditional and common custom. This paper may help medical professionals providing premarital genetic counselling, who are regularly asked about consanguineous marriage, especially in Islamic communities. Increased public awareness via the mass media would seem to be a priority.

scholarly journals Iniencephaly

2021 ◽  
Vol 10 (4) ◽  
pp. 239-241
Author(s):  
Feriha Fatima Khidri ◽  
Hina Riaz ◽  
Faiza Kamran Ali
Keyword(s):  
Risk Factors ◽  
Lower Abdominal Pain ◽  
Consanguineous Marriage ◽  
Prior History ◽  
Second Trimester ◽  
Baby Girl ◽  
Cardiac Deceleration ◽  
Pathological Evaluation ◽  
History Of

Iniencephaly is an uncommon form of neural tube defects which is characterized by retroflexion of the head and absence of neck as a consequence of defective closure of the vertebral body and arch. Multiple identified risk factors for its causation include environmental, genetic and drugs.  We report a case of 38-year-old woman with prior history of still birth and abortions who presented at 35 weeks of gestation with lower abdominal pain and high blood pressure. Mother had consanguineous marriage. Her hypothyroidism was untreated in the first and second trimester. She delivered an iniencephalic baby girl via emergency c-section with multiple malformations at 38 weeks gestation secondary to fetal cardiac deceleration. Baby survived for less than 18 hours. In this case, proper antenatal care and follow up visits were needed along with postnatal genetic and pathological evaluation including assessment of risk factors. Appropriate management is important to prevent complications and recurrence in subsequent pregnancies.   

scholarly journals Prevalence of chromosomal abnormalities identified by copy number variation sequencing in high-risk pregnancies, spontaneous abortions, and suspected genetic disorders

2019 ◽  
Vol 47 (3) ◽  
pp. 1169-1178 ◽  
Author(s):  
Rui Zhang ◽  
Xiangbin Chen ◽  
Dong Wang ◽  
Xuan Chen ◽  
Chao Wang ◽  
...  
Keyword(s):  
High Risk ◽  
Copy Number ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Genetic Disorders ◽  
Advanced Maternal Age ◽  
Spontaneous Abortions ◽  
Congenital Disease ◽  
Number Variation ◽  
History Of

Objective High-throughput sequencing based on copy number variation (CNV-seq) is commonly used to detect chromosomal abnormalities including aneuploidy. This study provides evidence for the prevalence of chromosomal abnormalities in target populations. Methods A total of 160 samples, including 83 high-risk pregnancies, 37 spontaneous abortions, and 40 suspected genetic disorders, were analyzed by CNV-seq. Relationships between the incidence of these chromosomal abnormalities and risk factors (e.g. advanced maternal age, abnormal pregnancy history, and family history of congenital disease) were further analyzed by subgroup. Results A total of 37 (44.6%) high-risk pregnancies, 25 (67.6%) spontaneous abortions, and 22 (55%) suspected genetic disorders had chromosomal abnormalities including aneuploidy and CNVs. There was an increased risk association between the prevalence of aneuploidy and pathogenic-relevant CNV in the fetus or abortive tissue and advanced maternal age. Moreover, a family history of congenital disease was also positively correlated with fetal chromosomal abnormalities in high-risk pregnancies. Conclusion A relatively high prevalence of chromosomal abnormalities was detected in high-risk pregnancies, spontaneous abortions, and suspected genetic disorders, indicating the importance of CNV detection in such populations.

Identification of SDHA germline mutations in sporadic SDHA mutant gastrointestinal stromal tumors (GIST): The need of a genetic counselling.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 11537-11537 ◽  
Author(s):  
Margherita Nannini ◽  
Milena Urbini ◽  
Valentina Indio ◽  
Angela Schipani ◽  
Bruno Vincenzi ◽  
...  
Keyword(s):  
Genetic Counselling ◽  
Germline Mutations ◽  
Gastric Gist ◽  
Missense Mutations ◽  
Mutation Carriers ◽  
Age Of Diagnosis ◽  
History Of ◽  
Sporadic Cases ◽  
Paraganglioma Syndrome

11537 Background: SDH- deficient GIST, as defined by the loss of expression of SDHB, account up to about 10% of all gastric GIST and generally affect younger population. Germline mutations in SDHB, SDHC, and SDHD occur in about 20–30% of SDH- deficient, that may be referred to a hereditary condition known as hereditary GIST-paraganglioma syndrome (Carney-Stratakis Syndrome), whereas germline SDHA mutations have been rarely described in apparently sporadic cases. Currently, even germline testing is recommended for SDH- deficient GIST, there are no clear guidelines for genetic counselling and follow-up of SDH x mutation carriers and relatives, especially for SDHA mutant GIST not yet linked to well-defined hereditary syndrome. The aim of this work was to study the SDHA gene in the normal DNA of patients with SDHA mutant GIST. Methods: Thirteen patients carrying SDHA-mutant GIST were studied (8F/5M). Median age of diagnosis was 45,9 years (range 25-74). All GIST were located in the stomach and 3 patients out 13 presented a metastatic disease. In all cases except one, the GIST was the only cancer presentation and no personal or familial history of cancer was revealed. All cases were negative for SDHB immunohistochemistry. Germline mutations were identified through Sanger sequencing of SDHA in the normal counterpart. Results: Germline mutations were identified in all patients for which normal counterpart was available: 4 cases harboured truncating mutations (S384X, R31X and W119X); 5 cases carried pathogenic missense mutations (G233V, R171H, R589Q, G257A and R600Q) and 2 cases had splice site alterations (c.457-3_457-1 delCAG and c.456+9 C > T). In 8 cases the tumor DNA showed the loss of the corresponding wild-type allele, while in the other 3 cases compound heterozygosity for an additional somatic mutation was detected (R589W, R451C,and R171C). In 2 patients, unfortunately, normal DNA was not available, however both tumours carried two mutational hits on SDHA (one with heterozygous G419R and E564K, and one with homozygous R585Q). Of note, 5 patients presented un-usaul SDHA related clinical characteristics as were not young adult ( > 50 years-old) or no multifocal GIST. Conclusions: We demonstrated that germline SDHA mutations are highly frequent in SDHA- deficient GIST. Therefore, although a clear syndrome has not been defined, genetic counselling and follow-up of SDHA mutation carriers and relatives should be clarified.

scholarly journals Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis

2021 ◽  
Author(s):  
Macarena Cabrera-Serrano ◽  
Laure Caccavelli ◽  
Marco Savarese ◽  
Anna Vihola ◽  
Manu Jokela ◽  
...  
Keyword(s):  
Genetic Disorders ◽  
Genetic Diagnosis ◽  
Allelic Loss ◽  
Loss Of Function ◽  
Gene Encoding ◽  
Lower Efficiency ◽  
Course Of Disease ◽  
Recurrent Rhabdomyolysis ◽  
History Of

Rhabdomyolysis is the acute breakdown of skeletal myofibres in response to an initiating factor, most commonly toxins and over exertion. A variety of genetic disorders predispose to rhabdomyolysis through different pathogenic mechanisms, particularly in patients with recurrent episodes. However, the majority of cases remain without a genetic diagnosis. Here we present six patients who presented with severe and recurrent rhabdomyolysis, usually with onset in the teenage years; other features included a history of myalgia and muscle cramps. We identified ten bi-allelic loss-of-function variants in the gene encoding obscurin (OBSCN) co-segregating with disease. We show reduced expression of OBSCN and loss of obscurin protein in patient muscle. Obscurin is proposed to be involved in SR function and Ca2+ handling. Patient cultured myoblasts appear more susceptible to starvation as evidenced by a greater decreased in SR Ca2+ content compared to control myoblasts. This likely reflects a lower efficiency when pumping Ca2+ back into the SR and/or a decrease in Ca2+ SR storage ability when metabolism is diminished. OSBCN variants have previously been associated with cardiomyopathies. None of the patients presented with a cardiomyopathy and cardiac examinations were normal in all cases in which cardiac function was assessed. There was also no history of cardiomyopathy in first degree relatives, in particular in any of the carrier parents. This cohort is relatively young, thus follow-up studies and the identification of additional cases with bi-allelic null OBSCN variants will further delineate OBSCN-related disease and the clinical course of disease.

Natural history of helicobacter pylori infection from infancy to adulthood: A 21-year follow-up cohort study

2001 ◽  
Vol 120 (5) ◽  
pp. A128-A128 ◽  
Author(s):  
H MALATY ◽  
D GRAHAM ◽  
A ELKASABANY ◽  
S REDDY ◽  
S SRINIVASAN ◽  
...  
Keyword(s):  
Helicobacter Pylori ◽  
Cohort Study ◽  
Natural History ◽  
Helicobacter Pylori Infection ◽  
History Of

Treatment of varicose tributaries with sclerotherapy with polidocanol 0.5 % foam

VASA ◽  
2010 ◽  
Vol 39 (2) ◽  
pp. 169-174 ◽  
Author(s):  
Reich-Schupke ◽  
Weyer ◽  
Altmeyer ◽  
Stücker
Keyword(s):  
Scientific Evidence ◽  
Daily Practice ◽  
Severe Adverse Effect ◽  
Safe Procedure ◽  
Efficacy And Safety ◽  
Foam Sclerotherapy ◽  
History Of ◽  
One Year ◽  
Additional Therapy

Background: Although foam sclerotherapy of varicose tributaries is common in daily practice, scientific evidence for the optimal sclerosant-concentration and session-frequency is still low. This study aimed to increase the knowledge on foam sclerotherapy of varicose tributaries and to evaluate the efficacy and safety of foam sclerotherapy with 0.5 % polidocanol in tributaries with 3-6 mm in diameter. Patients and methods: Analysis of 110 legs in 76 patients. Injections were given every second or third day. A maximum of 1 injection / leg and a volume of 2ml / injection were administered per session. Controls were performed approximately 6 months and 12 months after the start of therapy. Results: 110 legs (CEAP C2-C4) were followed up for a period of 14.2 ± 4.2 months. Reflux was eliminated after 3.4 ± 2.7 injections per leg. Insufficient tributaries were detected in 23.2 % after 6.2 ± 0.9 months and in 48.2 % after 14.2 ± 4.2 months, respectively. Only 30.9 % (34 / 110) of the legs required additional therapy. In 6.4 % vein surgery was performed, in 24.5 % similar sclerotherapy was repeated. Significantly fewer sclerotherapy-sessions were required compared to the initial treatment (mean: 2.3 ± 1.4, p = 0.0054). During the whole study period thrombophlebitis (8.2 %), hyperpigmentation (14.5 %), induration in the treated region (9.1 %), pain in the treated leg (7.3 %) and migraine (0.9 %) occurred. One patient with a history of thrombosis developed thrombosis of a muscle vein (0.9 %). After one year there were just hyperpigmentation (8.2 %) and induration (1.8 %) left. No severe adverse effect occurred. Conclusions: Foam sclerotherapy with injections of 0.5 % polidocanol every 2nd or 3rd day, is a safe procedure for varicose tributaries. The evaluation of efficacy is difficult, as it can hardly be said whether the detected tributaries in the controls are recurrent veins or have recently developed in the follow-up period. The low number of retreated legs indicates a high efficacy and satisfaction of the patients.

Pneumomediastinum: A Rare Presentation of Inflicted Injuries in Infants

2020 ◽  
Author(s):  
Adam Lee ◽  
Adam Bajinting ◽  
Abby Lunneen ◽  
Colleen M. Fitzpatrick ◽  
Gustavo A. Villalona
Keyword(s):  
Literature Review ◽  
Retrospective Review ◽  
Review Of The Literature ◽  
Rare Presentation ◽  
Spontaneous Pneumomediastinum ◽  
Nonaccidental Trauma ◽  
Comprehensive Literature Review ◽  
Healthy Infants ◽  
History Of

AbstractReports of incidental pneumomediastinum in infants secondary to inflicted trauma are limited. A retrospective review of infants with pneumomediastinum and history of inflicted trauma was performed. A comprehensive literature review was performed. Three infants presented with pneumomediastinum associated with inflicted trauma. Mean age was 4.6 weeks. All patients underwent diagnostic studies, as well as a standardized evaluation for nonaccidental trauma. All patients with pneumomediastinum were resolved at follow-up. Review of the literature identified other cases with similar presentations with related oropharyngeal injuries. Spontaneous pneumomediastinum in previously healthy infants may be associated with inflicted injuries. Clinicians should be aware of the possibility of an oropharyngeal perforation related to this presentation.

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