scholarly journals Apert syndrome: prenatal diagnosis challenge

2019 ◽  
Vol 12 (12) ◽  
pp. e231982 ◽  
Author(s):  
Catarina Vieira ◽  
Neusa Teixeira ◽  
Alexandra Cadilhe ◽  
Isabel Reis
Keyword(s):  
Genetic Disorder ◽  
Growth Factor Receptor ◽  
Apert Syndrome ◽  
Cranial Morphology ◽  
Family Counselling ◽  
Medical Termination ◽  
Fgfr2 Gene ◽  
Prenatal Management ◽  
Almost All ◽  
The Impact

Apert syndrome is a rare genetic disorder that manifests as craniosynostosis, craniofacial and limb dysmorphic features. Mutations in fibroblast growth factor receptor 2 (FGFR2) gene account for almost all cases. Given the impact it can have throughout life, prenatal management becomes a challenge. A healthy 33-year-old woman, gravida 4, para 0, was referred to routine ultrasound at 22 weeks of gestation. Atypical cranial morphology with prominent forehead, ocular proptosis, hypertelorism and mitten hands were detected. Genetic investigation revealed an FGFR2 gene mutation (c.755C>G(p.Ser252Trp)), confirming the diagnosis. Magnetic resonance showed brachycephaly, turricephaly and cortical malformation. Following counselling, parents requested medical termination of pregnancy. Macroscopic features were consistent with ultrasound findings. This case emphasises the importance of early diagnosis to provide the best family counselling and prenatal management. A multidisciplinary team, consisting of an obstetrician with ultrasonography experience, a medical geneticist and a fetal pathologist, should conduct these cases.

scholarly journals Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation

2021 ◽  
Author(s):  
Chandra Bhan Singh ◽  
Biswajit Mishra ◽  
Rashmi Patel ◽  
Ashok Kumar ◽  
Akhtar Ali
Keyword(s):  
Autosomal Dominant ◽  
Growth Factor Receptor ◽  
Sporadic Case ◽  
Apert Syndrome ◽  
Nasal Bridge ◽  
Craniofacial Dysmorphism ◽  
Fgfr2 Gene ◽  
Craniofacial Features ◽  
Ocular Hypertelorism ◽  
Hands And Feet

AbstractApert syndrome is a rare acrocephalosyndactyly (craniosynostosis) syndrome characterized by craniofacial dysmorphism and syndactyly of the hands and feet. It is caused by FGFR2 mutations and inherited in an autosomal dominant manner. This article describes a novel clinical variant of Apert syndrome having bilateral symmetrical tripod-shaped syndactyly in hands with milder craniofacial features in a sporadic case, along with a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The patient had shown craniosynostosis, dysmorphic face, ocular hypertelorism, marked depression of the nasal bridge, long philtrum, and low set ears. Direct resequencing of the FGFR2 gene through Sanger’s method identified a heterozygous missense mutation; FGFR2c.758C>G (FGFR2p.P253R) in the exon-7 of the gene.

scholarly journals Crouzon syndrome: a case report

2017 ◽  
Vol 5 (1) ◽  
pp. 260
Author(s):  
Gursharn Singh ◽  
Supriya Malik ◽  
Jaskeen Kaur
Keyword(s):  
Fibroblast Growth Factor Receptor ◽  
Genetic Disorder ◽  
Growth Factor Receptor ◽  
Multidisciplinary Management ◽  
Fibroblast Growth ◽  
Crouzon Syndrome ◽  
Radiological Features ◽  
Fgfr2 Gene ◽  
Cranial Deformity ◽  
Clinical Characteristic

Crouzon syndrome is an example of syndromes caused by premature obliteration and ossification of two or more sutures, most commonly coronal and sagittal. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon syndrome is caused by mutation in the Fibroblast Growth Factor Receptor 2 (FGFR2) gene. This disorder is characterized by distinctive malformations of skull and face (craniofacial region). Premature cranial suture closure is the most common skull abnormality. The case of an 8-month-old boy with Crouzon syndrome which is one of syndromes associated with synostosis, is presented. He presented in OPD with a cranial deformity, maxillary hypoplasia and exophthalmos. The clinical, characteristic radiological features and investigations carried out, along with treatment of this patient are discussed as part of multidisciplinary management.

Contemporary Qur'anic Studies in Iran and its Relationship with Qur'anic Studies in the West

2012 ◽  
Vol 14 (1) ◽  
pp. 45-72
Author(s):  
Morteza Karimi-Nia
Keyword(s):  
Islamic Law ◽  
Human Sciences ◽  
The West ◽  
Communications Technologies ◽  
Religious Learning ◽  
The Status ◽  
Islamic Republic Of Iran ◽  
Almost All ◽  
The Impact ◽  
The Relationship

The status of tafsīr and Qur'anic studies in the Islamic Republic of Iran has changed significantly during recent decades. The essay provides an overview of the state of Qur'anic studies in Iran today, aiming to examine the extent of the impact of studies by Western scholars on Iranian academic circles during the last three decades and the relationship between them. As in most Islamic countries, the major bulk of academic activity in Iran in this field used to be undertaken by the traditional ʿulamāʾ; however, since the beginning of the twentieth century and the establishment of universities and other academic institutions in the Islamic world, there has been increasing diversity and development. After the Islamic Revolution, many gradual changes in the structure and approach of centres of religious learning and universities have occurred. Contemporary advancements in modern sciences and communications technologies have gradually brought the institutions engaged in the study of human sciences to confront the new context. As a result, the traditional Shīʿī centres of learning, which until 50 years ago devoted themselves exclusively to the study of Islamic law and jurisprudence, today pay attention to the teaching of foreign languages, Qur'anic sciences and exegesis, including Western studies about the Qur'an, to a certain extent, and recognise the importance of almost all of the human sciences of the West.

IFRS IMPLEMENTATION AS ONE OF THE FACTORS FOR IMPROVING THE INVESTMENT CLIMATE IN UKRAINE

2017 ◽  
Author(s):  
Kateryna Sova ◽  
◽  
Natalia Yatsenko ◽  
Denys Zagirniak ◽  
◽  
...  
Keyword(s):  
Financial Reporting ◽  
Direct Investment ◽  
Financial Statements ◽  
International Standards ◽  
Investment Climate ◽  
The European Union ◽  
Economic Activities ◽  
Financial Reporting Standards ◽  
Almost All ◽  
The Impact

The article is devoted to the study of the impact of the introduction of International Financial Reporting Standards (IFRS) on changes in the investment climate in Ukraine. The relevance of the topic is that improving the practice of applying IFRS as a tool for exchanging financial information is one of the key conditions for improving the investment climate in Ukraine. The authors have created the generalized scheme that illustrates the chronological list of enterprises that are required by law to prepare financial statements in accordance with IFRS. It was noted that in 2018, in accordance with Part 2 of Article 12 of the law on accounting and financial reporting in Ukraine and resolution of the Cabinet of Ministers of Ukraine No. 547 from 11.07.2018, the criteria of enterprises that are required to prepare financial statements in accordance with IFRS were updated. This step significantly increased the level of application of international standards due to the adoption of such a decision at the legislative level. The dynamics of the number of IFRS enterprises in Ukraine was analyzed. The analysis showed that over the past three years, the number of almost all enterprises that must apply international standards has been growing. The advantages of using IFRS for different users of financial statements were determined. It was determined that the priority users of IFRS financial statements are investors. At the same time, it was noted that the main advantage for other users of financial statements prepared in accordance with international standards is the improvement of the investment climate. The dynamics of the Investment Attractiveness Index of Ukraine based on the Likert scale in the period from 2016 to 2020 was analyzed. The direct investment receipts to Ukraine from the European Union countries were studied. The dynamics of direct investment in the Ukrainian economy was analyzed for two types of economic activities that should form financial statements in accordance with IFRS, namely, the extractive industry and quarrying, as well as financial and insurance activities.

The Impact of Entrepreneurial Behavior on Sales Volume

2017 ◽  
Vol 1 (1) ◽  
pp. 1-6
Author(s):  
Adjeng Tiara Eltari ◽  
Hendrati Dwi Mulyaningsih
Keyword(s):  
Quantitative Research ◽  
Coefficient Of Determination ◽  
Sales Volume ◽  
Entrepreneurial Behavior ◽  
Street Vendors ◽  
Quantitative Research Methods ◽  
Entrepreneurial Behaviour ◽  
Full Calculation ◽  
Almost All ◽  
The Impact

This research was conducted at the Culinary Hawkers that located on Highway Sukapura, Dayeuhkolot, Bandung. This study examines the Entrepreneurial behaviour which resulted in increased sales volumes. Almost all Culinary Hawkers on Highway Sukapura doesn’t yet have the entrepreneurial behavior in accordance with the characteristics - traits mentioned by Suryana, Confident, Own initiative, Have achievement motive, Having leadership, and Dare to take risks with the full calculation. The purpose of this study was to investigate the influence of entrepreneurial behavior to the merchant's sales volume culinary pavement on Highway Sukapura, Dayeuhkolot, Bandung.Researchers used quantitative research methods. The population in this study was 63 Merchants Culinary Street on Highway Sukapura. Samples are 63 street vendors in JalanSukapura. Data were analyzed using simple regression analysis.The results showed that entrepreneurial behavior affect the sales volume of culinary street traders in Highway Sukapura. Based on the calculation coefficient of determination (R2) can be seen the effect of entrepreneurial behavior variables (X) on sales volume (Y) is approximately 94%. While the remaining 6% are influenced by other factors such as competence, performance, and motivation.

ACOUSTIC PANEL CHICKEN FEATHER WASTE ENVIRONMENTALLY FRIENDLY

2020 ◽  
Author(s):  
Ansarullah ◽  
Ramli Rahim ◽  
Baharuddin Hamzah ◽  
Asniawaty Kusno ◽  
Muhammad Tayeb
Keyword(s):  
Animal Feed ◽  
Environmentally Friendly ◽  
Selling Price ◽  
Chicken Feather ◽  
Chicken Feathers ◽  
The Road ◽  
Feather Waste ◽  
Chicken Feather Waste ◽  
Almost All ◽  
The Impact

Chicken feathers are the result of waste from slaughterhouses and billions ofkilograms of waste produced by various kinds of poultry processing. This hal is a veryserious problem for the environment because it causes the impact of pollution. Hasmany utilization of chicken feather waste such as making komocen, accessories,upholstery materials, making brackets to the manufacture of animal feed but from theresults of this activity cannot reduce the production of chicken feathers that hiscontinuously increase every year. This is due to the fact that the selling price of chickenmeat has been reached by consumers with middle to upper economic levels. This caneasily be a chicken menu in almost all restaurants and restaurants to the food stalls onthe side of the road. An alternative way of utilizing chicken feathers is to makecomposite materials in the form of panels. Recent studies have shown that the pvacmaterial can be utilized as a mixing and adhesive material with mashed or groundfeathered composites to form a panel that can later be used as an acoustic material.The test results show that the absorption of chicken feathers and pvac glue into panelscan absorb sound well with an absorption coefficient of 0.59, light. This result is veryeconomical so it is worth to be recommended as an acoustic material. Apart from theresults of research methods carried out is one of the environmentally friendly activitiesin particular the handling of waste problems

Being Away from Purun: Women’s Experiences in Peatland Area of Hulu Sungai Utara, South Kalimantan

2020 ◽  
Vol 25 (1) ◽  
pp. 25
Author(s):  
Enik Maslahah
Keyword(s):  
Land Management ◽  
Environmental Sustainability ◽  
Environmental Damage ◽  
Environmental Destruction ◽  
Women’S Experiences ◽  
Women's Experiences ◽  
Almost All ◽  
The Impact ◽  
Area Management

<p>Purun is a typical plant that grow in peatland area that has important functions for people living in peatland area. The availability of purun is now decreasing due to changes in land management and environmental destruction. Almost all of the plantation commodities in the peatlands area, management of peatlands in the forestry, agriculture, plantation and fisheries sectors apply exploitative and pragmatic methods, while ignoring environmental sustainability. Furthermore, environmental damage also occurs due to disasters such as forest and land fires that often occur in peatland areas in Indonesia. One of the damages happen to peatland area is the damage and scarcity of purun. As users and beneficiaries of purun, women become the affected group that face  the impact of peatland destruction. This paper describes the experiences and efforts of women in peatland areas to restore land and restore the existence of purun in their villages.</p><p> </p>

The Impact of Translational Research in Breast Cancer Care: Can we Improve the Therapeutic Scenario?

2018 ◽  
Vol 18 (6) ◽  
pp. 832-836
Author(s):  
Giuseppe Buono ◽  
Francesco Schettini ◽  
Francesco Perri ◽  
Grazia Arpino ◽  
Roberto Bianco ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Translational Research ◽  
Cell Biology ◽  
Cancer Biology ◽  
Hormone Receptors ◽  
Treatment Strategies ◽  
Growth Factor Receptor ◽  
Molecular Heterogeneity ◽  
Therapeutic Implications ◽  
The Impact

Traditionally, breast cancer (BC) is divided into different subtypes defined by immunohistochemistry (IHC) according to the expression of hormone receptors and overexpression/amplification of human epidermal growth factor receptor 2 (HER2), with crucial therapeutic implications. In the last few years, the definition of different BC molecular subgroups within the IHC-defined subtypes and the identification of the important role that molecular heterogeneity can play in tumor progression and treatment resistance have inspired the search for personalized therapeutic approaches. In this scenario, translational research represents a key strategy to apply knowledge from cancer biology to the clinical setting, through the study of all the tumors “omics”, including genomics, transcriptomics, proteomics, epigenomics, and metabolomics. Importantly, the introduction of new high-throughput technologies, such as next generation sequencing (NGS) for the study of cancer genome and transcriptome, greatly amplifies the potential and the applications of translational research in the oncology field. Moreover, the introduction of new experimental approaches, such as liquid biopsy, as well as new-concept clinical trials, such as biomarker-driven adaptive studies, may represent a turning point for BC translational research. </P><P> It is likely that translational research will have in the near future a significant impact on BC care, especially by giving us the possibility to dissect the complexity of tumor cell biology and develop new personalized treatment strategies.

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