scholarly journals A case study on various disorders and defects present in congenital myasthenia syndrome

2020 ◽  
Vol 11 (SPL4) ◽  
pp. 599-602
Author(s):  
Sravani G ◽  
Ramana S V ◽  
Natarajan B ◽  
Iysverya G T
Keyword(s):  
Early Childhood ◽  
Family History ◽  
Muscle Fatigue ◽  
Female Patient ◽  
Genetic Diagnosis ◽  
History Of ◽  
Congenital Myasthenia ◽  
Respiratory Emergencies ◽  
Left Eyelid

The Congenital Myasthenia Syndromes (CMS) are a different gathering of problems that have a hidden deformity in the transmission of signs from nerve cells to muscles. These problems are described by muscle shortcoming, which is declined upon effort. The time of beginning, seriousness of introducing indications and dissemination of muscle shortcoming can shift starting with one patient then onto the next. The synapse, acetylcholine, or ACh for short that goes about as a compound 'courier' with guidelines for the muscles to contract. A three years old child female patient was brought to our department with the complaints of drooping of the left eyelid after one week she developed drooping of right eye. With scientific and laboratory discoveries, she is identified by congenital myasthenia and treatment was started. Evidence from case notes, history, review and accept. Muscle fatigue habits included limb, trunk, bulbar, respiratory, nasal, extraocular muscles and patients reacted with anticholinesterase and 3,4-diaminopyridine. Quick channel syndrome compared with AChR in serious respiratory emergencies in infancy or early childhood. Two children's fatalities, also in care and family history of sibling deaths, highlight the need for effective genetic diagnosis.

scholarly journals Bilateral maxillary palatal talon cusps in deciduous central incisors

2019 ◽  
Vol 12 (2) ◽  
pp. e227596
Author(s):  
Jehan AlHumaid
Keyword(s):  
Family History ◽  
Female Patient ◽  
Saudi Arabian ◽  
Consanguineous Marriage ◽  
Deciduous Dentition ◽  
Pulp Tissue ◽  
History Of

‘Talon cusp’ is a developmental dental disturbance characterised by a cuspal projection in the cingulum area or cementoenamel junction, with normal enamel and dentin containing varying degrees of pulp tissue. The prevalence of talon cusp varies with race, age and the criteria used for diagnosis. It has been reported in the maxillary and mandibular arches of both the deciduous and permanent dentitions. The prevalence of the talon cusp in the deciduous dentition is reported to be 2.1% in Saudi Arabian subjects. The purpose of this paper is to report the rare bilateral presence of talon cusps on the deciduous maxillary central incisors of a 4-year-old female patient with a family history of consanguineous marriage.

scholarly journals Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG)

Gut ◽  
2019 ◽  
Vol 69 (3) ◽  
pp. 411-444 ◽  
Author(s):  
Kevin J Monahan ◽  
Nicola Bradshaw ◽  
Sunil Dolwani ◽  
Bianca Desouza ◽  
Malcolm G Dunlop ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Great Britain ◽  
Family History ◽  
Cancer Genetics ◽  
Genetic Diagnosis ◽  
Lifetime Risk ◽  
British Society ◽  
Screening And Surveillance ◽  
History Of ◽  
The Uk

Heritable factors account for approximately 35% of colorectal cancer (CRC) risk, and almost 30% of the population in the UK have a family history of CRC. The quantification of an individual’s lifetime risk of gastrointestinal cancer may incorporate clinical and molecular data, and depends on accurate phenotypic assessment and genetic diagnosis. In turn this may facilitate targeted risk-reducing interventions, including endoscopic surveillance, preventative surgery and chemoprophylaxis, which provide opportunities for cancer prevention. This guideline is an update from the 2010 British Society of Gastroenterology/Association of Coloproctology of Great Britain and Ireland (BSG/ACPGBI) guidelines for colorectal screening and surveillance in moderate and high-risk groups; however, this guideline is concerned specifically with people who have increased lifetime risk of CRC due to hereditary factors, including those with Lynch syndrome, polyposis or a family history of CRC. On this occasion we invited the UK Cancer Genetics Group (UKCGG), a subgroup within the British Society of Genetic Medicine (BSGM), as a partner to BSG and ACPGBI in the multidisciplinary guideline development process. We also invited external review through the Delphi process by members of the public as well as the steering committees of the European Hereditary Tumour Group (EHTG) and the European Society of Gastrointestinal Endoscopy (ESGE). A systematic review of 10 189 publications was undertaken to develop 67 evidence and expert opinion-based recommendations for the management of hereditary CRC risk. Ten research recommendations are also prioritised to inform clinical management of people at hereditary CRC risk.

From Cotton to Coca-Cola: A Family History Case Study on the Limitations of Higher Education to Close the Generational Wealth Gap

JCSCORE ◽  
2018 ◽  
Vol 2 (2) ◽  
pp. 40-62
Author(s):  
Jacqueline Jordan Irvine
Keyword(s):  
Higher Education ◽  
Family History ◽  
Black People ◽  
Black Families ◽  
Structural Factors ◽  
Government Programs ◽  
White Families ◽  
History Of ◽  
The Relationship

This article is a family history that supported the relationship between slavery and generational wealth. The research documented the history of two Moffett families who were probably not related biologically—a White one who owned a Black one with the same last name. However, the two family histories revealed a larger and more complicated narrative about the origins and intractable roots of American inequality that follows the trail of my slave ancestors to one of the most well- known and wealthiest international corporations in the world—from cotton to Coca-Cola. This is the account of a set of conditions that, while assisting Whites to acquire generational wealth, prevented Black people from doing the same. The piece discusses how generational wealth is accumulated and maintained and argues that higher education alone has provided limited opportunities for Black families to acquire and maintain generational wealth. Recommendations included attention to individual and institutional racism, particularly the structural factors that White families have used to leverage their income and wealth, notably government programs, political and social contacts, access to financial resources, and privileged information about economic opportunities.

Malignant Paraganglioma (Multiple, Multicentric, and Metastatic) in a Female Patient With Family History of Paraganglioma

2015 ◽  
Vol 93 (9) ◽  
pp. e127-e132
Author(s):  
Ernesto Cobos González ◽  
José Arturo Aragón López ◽  
Danny Rolando Soria Céspedes ◽  
Marco Antonio de la Rosa Abaroa ◽  
Andrea Martínez de la Vega Celorio ◽  
...  
Keyword(s):  
Family History ◽  
Female Patient ◽  
Malignant Paraganglioma ◽  
History Of

scholarly journals AYURVEDIC MANAGEMENT OF UBHYAGA AMLAPITTA: A CASE STUDY

2020 ◽  
Vol 11 (6) ◽  
pp. 1-3
Author(s):  
Tahir Hussain ◽  
Pankaj Kumar
Keyword(s):  
Gastric Mucosa ◽  
Female Patient ◽  
Epigastric Pain ◽  
Burning Sensation ◽  
World Population ◽  
Loss Of Consciousness ◽  
The World ◽  
History Of ◽  
The Given

Amlapitta is a diseases caused due to increase in the amla guna of pitta dosha. Amlapitta is divided on the basis of gati i.e. Urdhwaga Amlapitta and Adhoga Amlapitta. Adhoga amlapitta shows symptoms like trisha, daha, murcha, bharma, moha, mandagni etc. and Urdhwaga Amlapitta shows symptoms like tikta-amlaudgara, kanthhridyakukshidaha, tikta-amalchardi etc. Due to resemblance of sign and symptom it is correlated with Gastritis. Gastritis is diseases that have symptoms like epigastric pain, nausea, vomiting, bloating, heart burn etc. Gastritis occurs due to inflammation of the gastric mucosa. Prevalence of Gastritis all over the world population is 50% and it increases with age. It affects about 8-20% of population in India. A 22 years old female patient from Sirsa, Haryana was having complain of burning sensation in stomach and oesophagus after intake of food, sour belching, dry and burnt tongue since four months. She was also having history of loss of consciousness 2 month back. Her aggravating factor is mainly intake of lunch meal wherever relieving factors consist of milk and amalaki juice consumption. On the basis of all sign and symptoms she was diagnosed with Ubhyaga Amlapitta. In this case the treatment planned was Sadhyo Vamana followed by classical Virechana. In this case the given treatment pacifies mainly pitta dosha along with kapha and vata dosha due to their Amlapitta is a diseases caused due to increase in the amla guna of pitta dosha. Amlapitta is divided on the basis of gati i.e. Urdhwaga Amlapitta and Adhoga Amlapitta. Adhoga amlapitta shows symptoms like trisha, daha, murcha, bharma, moha, mandagni etc. and Urdhwaga Amlapitta shows symptoms like tikta-amlaudgara, kanthhridyakukshidaha, tikta-amalchardi etc. Due to resemblance of sign and symptom it is correlated with Gastritis. Gastritis is diseases that have symptoms like epigastric pain, nausea, vomiting, bloating, heart burn etc. Gastritis occurs due to inflammation of the gastric mucosa. Prevalence of Gastritis all over the world population is 50% and it increases with age. It affects about 8-20% of population in India. A 22 years old female patient from Sirsa, Haryana was having complain of burning sensation in stomach and oesophagus after intake of food, sour belching, dry and burnt tongue since four months. She was also having history of loss of consciousness 2 month back. Her aggravating factor is mainly intake of lunch meal wherever relieving factors consist of milk and amalaki juice consumption. On the basis of all sign and symptoms she was diagnosed with Ubhyaga Amlapitta. In this case the treatment planned was Sadhyo Vamana followed by classical Virechana. In this case the given treatment pacifies mainly pitta dosha along with kapha and vata dosha due to their guna and karma.

scholarly journals Genetic counselling in a national referral centre for pulmonary hypertension

2015 ◽  
Vol 47 (2) ◽  
pp. 541-552 ◽  
Author(s):  
Barbara Girerd ◽  
David Montani ◽  
Xavier Jaïs ◽  
Mélanie Eyries ◽  
Azzedine Yaici ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Family History ◽  
Genetic Counselling ◽  
Screening Programme ◽  
Genetic Diagnosis ◽  
Referral Centre ◽  
Mutation Carriers ◽  
Predisposing Genes ◽  
History Of ◽  
Pulmonary Arterial

Genetic causes of pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease (PVOD) have been identified, leading to a growing need for genetic counselling.Between 2003 and 2014, genetic counselling was offered to 529 PAH and 100 PVOD patients at the French Referral Centre for Pulmonary Hypertension.Mutations in PAH-predisposing genes were identified in 72 patients presenting as sporadic PAH (17% of cases; 62 mutations in BMPR2, nine in ACVRL1 (ALK1) and one in ENG) and in 94 patients with a PAH family history (89% of cases; 89 mutations in BMPR2, three in ACVRL1 (ALK1) and two in KCNK3). Bi-allelic mutations in EIF2AK4 were identified in all patients with a family history of PVOD (n=19) and in seven patients (8.6%) presenting as sporadic PVOD. Pre-symptomatic genetic diagnosis was offered to 272 relatives of heritable PAH patients, identifying mutations in 36.4% of them. A screening programme is now offered to asymptomatic mutation carriers to detect PAH in an early phase and to identify predictors of outcomes in asymptomatic BMPR2 mutation carriers. BMPR2 screening allowed us to offer pre-implantation diagnosis to two couples with a BMPR2 mutation.Genetic counselling can be implemented in pulmonary hypertension centres.

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