scholarly journals Case Report: Identification of Germline Chimerism in Monochorionic Dizygotic Twins

2021 ◽  
Vol 12 ◽  
Author(s):  
Juan Chen ◽  
Jian Xu ◽  
Zhi-Heng Chen ◽  
Min-Na Yin ◽  
Xin-Yu Guo ◽  
...  
Keyword(s):  
Snp Array ◽  
Digital Pcr ◽  
Childhood Development ◽  
Monochorionic Twins ◽  
Preimplantation Genetic Testing ◽  
Dizygotic Twins ◽  
Opposite Sex ◽  
Twin Pregnancies

Monochorionic twins are generally considered to be monozygotic, as monochorionic dizygotic (MCDZ) twins are extremely rare in natural pregnancies. Several studies have reported this rare occurrence, and most of these pregnancies have been conceived by assisted reproductive technology (ART). These reports mostly focused on MCDZ twin pregnancies and the childhood development of the twins; a follow-up into adulthood and the effect on their reproduction has not been reported. In this case study, we report a case of chimerism in opposite-sex MCDZ twins who were naturally conceived and have reached reproductive maturity. We collected oral mucosal, endometrial, and germ cells from the twins and evaluated their chimerism using single-nucleotide polymorphism (SNP) array and droplet digital PCR (ddPCR). The SNP array showed that they had 4,049 non-allele shared loci, and they inherited nearly 50% informative SNP loci from each parent, confirming that they are dizygotic twins. We found that the female twin had a 46, XX (2)/46, XY (78) karyotype in her peripheral blood. The SNP array confirmed that the female twin and male twin had the same blood haplotype. The ddPCR result showed 92.84 (± 1.80%) chimerism in her blood. In case of chimerism in her germline, the female twin chose preimplantation genetic testing for aneuploidy for her blastocysts. Fortunately, the patient only had blood chimerism. A healthy boy was born at 39 weeks of gestation.

Intensive Stuttering Therapy With Telepractice Follow-up: A Case Study

2011 ◽  
Vol 21 (1) ◽  
pp. 11-21 ◽  
Author(s):  
Farzan Irani ◽  
Rodney Gabel
Keyword(s):  
Case Report ◽  
Therapeutic Intervention ◽  
Intensive Therapy ◽  
Positive Outcome ◽  
Eclectic Approach

This case report describes the positive outcome of a therapeutic intervention that integrated an intensive, residential component with follow-up telepractice for a 21 year old male who stutters. This therapy utilized an eclectic approach to intensive therapy in conjunction with a 12-month follow-up via video telepractice. The results indicated that the client benefited from the program as demonstrated by a reduction in percent stuttered syllables, a reduction in stuttering severity, and a change in attitudes and feelings related to stuttering and speaking.

Efektivitas Layanan Darurat Jakarta Siaga 112 dalam Penanganan Kebakaran oleh UPT. Pusat Data & Informasi Kebencanaan BPBD Provinsi DKI Jakarta

2020 ◽  
Vol 16 (1) ◽  
Author(s):  
Musa Musa
Keyword(s):  
Emergency Service ◽  
Fire Management ◽  
Emergency Services ◽  
The Public ◽  
Information Center ◽  
Disaster Data ◽  
In Fire ◽  
Document Review

This research was conducted to determine the Effectiveness of Jakarta Siaga 112 Emergency Services in Fire Management by UPT. Disaster Data & Information Center of BPBD DKI Jakarta Province by paying attention to aspects contained in the Effectiveness of the Jakarta Siaga Emergency Service Program 112. The research method was carried out with a case study method with data collection techniques using interview methods and document review. Interviews were conducted on 10 (ten) key informants, document review focused on documents related to the Jakarta Emergency Alert Service 112 Effectiveness research in Fire Management. The results showed that the Effectiveness of Jakarta Siaga 112 Emergency Services in Fire Management by UPT. The Center for Disaster Data & Information BPBD DKI Jakarta Province Its effectiveness is still low, due to the Implementation of Emergency Services Jakarta Standby 112 in Fire Management implemented by UPT. Disaster Data & Information Center of BPBD DKI Jakarta Province in terms of the Target Group Understanding of the Program, the Achievement of the Program Objectives aspects, and the Program Follow-up aspects. It is recommended to continue to disseminate this Emergency Service to the public, it is necessary to increase the firm commitment of the Head of 8 SKPD related to fire management so that all units play a role in accordance with the Standard Operating Procedures (SOPs) for Fire Management and the evaluation and follow-up of program services that are held periodically 3 once a month.Keywords: Effectiveness, Emergency Services, Fire Handling

Paranasal Sinus Mucocele Clinical, imagistic and biochemical aspects

2018 ◽  
Vol 69 (8) ◽  
Author(s):  
Doina Vesa ◽  
Cristian Martu ◽  
Razvan Leata ◽  
Ludmila Lozneanu ◽  
luminita Radulescu ◽  
...  
Keyword(s):  
Facial Asymmetry ◽  
Retrospective Case ◽  
Mri Scans ◽  
The One ◽  
Ethmoid Sinuses ◽  
Retrospective Case Study ◽  
Cellular Components ◽  
Ct And Mri

Paranasal mucoceles are a type of cysts that evolve slowly and are asymptomatic; this poses a difficulty in diagnosing the patient because the symptoms can go unnoticed. The mucocele evolves unpredictably. On the one hand, it can become infected turning into pyoceles and on the other hand, it can invade important regions such as the orbital, cranial or genian regions, creating facial asymmetry. This is a retrospective case study of 37 patients diagnosed with sinus mucoceles, followed up by clinical examination and paraclinical tests such as CT and MRI scans. The biochemical components of the liquid from within the mucocele were analyzed and the following criteria were recorded: NaCl-, Cl-, Na+ and cholesterine as well as cellular components such as mastocytes, macrophages, hematocytes and leucocytes. In all cases, the treatment option was surgery with favorable post-operative and follow-up evaluation. The mucoceles that appeared post-operatively (maxillary and ethmoid sinuses) evolved more rapidly than the mucoceles that were induced byan external injury. Longer follow-up of operated patients permitted a more timely diagnosis of recurrences.

Obesity management through Ayurveda - A Case Study

2017 ◽  
Vol 2 (4) ◽  
Author(s):  
Dheeraj Kumar Tyagi ◽  
Shivakumar .
Keyword(s):  
Clinical Findings ◽  
Dietary Habit ◽  
Unhealthy Lifestyle ◽  
Lifestyle Management ◽  
Before And After ◽  
Effect Of Treatment ◽  
And Control

Lifestyle disorders are one of the biggest threats for the population living unhealthy lifestyle. Sthoulya (Obesity) is one such disorder which creates lot of physical as well as mental disorder to the sufferer. Due to changing lifestyle, comforts and dietary habit lots of individuals changed their life totally. Obesity is a growing disease in developed and developing countries. Prevalence is drastically hike in past few years. Ayurveda, the science of life with which we can manage and control lots of lifestyle disorders. Focusing on dietary and lifestyle management along with treatment, we can overcome the hazards of obesity which is growing in a uncontrolled manner. The available data is based on the clinical findings only. Aim and objective: To assess the effect of “Guru Cha Atarpanam Chikitsa” in the management of Sthoulya. Setting: Swastharakshana evam Yoga, OPD and IPD, SDMCAH, Hassan. Method: Udwarthana, Parisheka, Shamana Aushadhis, Ahara, and Vihara was followed within the treatment duration and effect of treatment was assessed before and after treatment, advised for follow up. Results: The treatment adopted is effective in the management of Sthoulya and to improve the quality of life.

What Matters to South African Bank Customers? A Case Study of four Main South African Banks

2015 ◽  
Vol 6 (1and2) ◽  
Author(s):  
Kingstone Mutsonziwa
Keyword(s):  
Customer Satisfaction ◽  
South African ◽  
Language Usage ◽  
Face To Face ◽  
Bank Resolution ◽  
African Context ◽  
Key Drivers ◽  
Investment Advice

This paper is a follow-up article based on the first article titled Customers speak for themselves: A case of Customer Satisfaction in the four Main South African Banks. Customer satisfaction within the banking industry is very important in the South African context. Although banks are trying their best to give their customers the best service, it is important to continuously measure customer satisfaction and identify service attributes that contribute to overall customer satisfaction for the banks. The data used in the analysis is based on a quantitative survey of 500 randomly selected customers in Pretoria, Johannesburg, Durban and Cape Town were interviewed using a face to face methodology. The key drivers of overall customer satisfaction based on regression analysis for the different banks were helpfulness and innovativeness (ABSA), helpfulness, innovativeness of the bank, resolution of problems and investment advice (FNB), language usage and friendliness of service consultants (Nedbank), innovativeness of the bank, investment advice and use of language (Standard bank). These attributes were important to the overall customer satisfaction and need to be closely monitored by the management of these banks.

scholarly journals Circulating tumor DNA is detectable in canine histiocytic sarcoma, oral malignant melanoma, and multicentric lymphoma

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Anaïs Prouteau ◽  
Jérôme Alexandre Denis ◽  
Pauline De Fornel ◽  
Edouard Cadieu ◽  
Thomas Derrien ◽  
...  
Keyword(s):  
Residual Disease ◽  
Specific Antigen ◽  
Point Mutations ◽  
Antigen Receptor ◽  
Digital Pcr ◽  
Circulating Tumor Dna ◽  
Histiocytic Sarcoma ◽  
Oncology Research ◽  
Tumor Dna

AbstractCirculating tumor DNA (ctDNA) has become an attractive biomarker in human oncology, and its use may be informative in canine cancer. Thus, we used droplet digital PCR or PCR for antigen receptor rearrangement, to explore tumor-specific point mutations, copy number alterations, and chromosomal rearrangements in the plasma of cancer-affected dogs. We detected ctDNA in 21/23 (91.3%) of histiocytic sarcoma (HS), 2/8 (25%) of oral melanoma, and 12/13 (92.3%) of lymphoma cases. The utility of ctDNA in diagnosing HS was explored in 133 dogs, including 49 with HS, and the screening of recurrent PTPN11 mutations in plasma had a specificity of 98.8% and a sensitivity between 42.8 and 77% according to the clinical presentation of HS. Sensitivity was greater in visceral forms and especially related to pulmonary location. Follow-up of four dogs by targeting lymphoma-specific antigen receptor rearrangement in plasma showed that minimal residual disease detection was concordant with clinical evaluation and treatment response. Thus, our study shows that ctDNA is detectable in the plasma of cancer-affected dogs and is a promising biomarker for diagnosis and clinical follow-up. ctDNA detection appears to be useful in comparative oncology research due to growing interest in the study of natural canine tumors and exploration of new therapies.

scholarly journals Quality Assessment of the Services Delivered by a Court, Based on the Perceptions of Users, Magistrates, and Court Officials

2021 ◽  
Vol 13 (2) ◽  
pp. 504
Author(s):  
Patrícia Moura e Sá ◽  
Maria João Rosa ◽  
Gonçalo Santinha ◽  
Cátia Valente
Keyword(s):  
Service Quality ◽  
Service Providers ◽  
Service Performance ◽  
Technological Equipment ◽  
Perceived Service Quality ◽  
Positive View ◽  
Depth Interview

This paper aims to measure the quality of the services delivered by a court by assessing the satisfaction of court users and service providers, i.e., magistrates and court officials. For that purpose, a case study was carried out and data were collected by means of a questionnaire based on the SERVPERF instrument, in which perceived service quality is measured, considering court users, magistrates, and court officials’ perceptions of post-service performance. One hundred and fifty-eight questionnaires were successfully returned. An in-depth interview was later conducted to the court administrator to gain a richer understanding of the results achieved and ask follow-up questions. Overall, findings revealed that court users, magistrates, and court officials clearly have a positive view of the services provided, although improvement is needed, particularly in the court’s facilities and technological equipment. The current research sheds some light on the potentialities and difficulties of assessing service quality in the judiciary and contributes to the validation of the SERVPERF instrument in this context.

scholarly journals Longitudinal Circulating Levels of miR-23b-3p, miR-126-3p and lncRNA GAS5 in HCC Patients Treated with Sorafenib

Biomedicines ◽  
2021 ◽  
Vol 9 (7) ◽  
pp. 813
Author(s):  
Michele Manganelli ◽  
Ilaria Grossi ◽  
Manuela Ferracin ◽  
Paola Guerriero ◽  
Massimo Negrini ◽  
...  
Keyword(s):  
Digital Pcr ◽  
Droplet Digital Pcr ◽  
Healthy Individuals ◽  
Roc Curve Analysis ◽  
Multikinase Inhibitor ◽  
Sorafenib Treatment ◽  
The Third ◽  
Circulating Levels ◽  
Systemic Drug

Human hepatocellular carcinoma (HCC) is the most frequent primary tumor of the liver and the third cause of cancer-related deaths. The multikinase inhibitor sorafenib is a systemic drug for unresectable HCC. The identification of molecular biomarkers for the early diagnosis of HCC and responsiveness to treatment are needed. In this work, we performed an exploratory study to investigate the longitudinal levels of cell-free long ncRNA GAS5 and microRNAs miR-126-3p and -23b-3p in a cohort of 7 patients during the period of treatment with sorafenib. We used qPCR to measure the amounts of GAS5 and miR-126-3p and droplet digital PCR (ddPCR) to measure the levels of miR-23b-3p. Patients treated with sorafenib displayed variable levels of GAS5, miR-126-3p and miR-23b-3p at different time-points of follow-up. miR-23b-3p was further measured by ddPCR in 37 healthy individuals and 25 untreated HCC patients. The amount of miR-23b-3p in the plasma of untreated HCC patients was significantly downregulated if compared to healthy individuals. The ROC curve analysis underlined its diagnostic relevance. In conclusion, our results highlight a potential clinical significance of circulating miR-23b-3p and an exploratory observation on the longitudinal plasmatic levels of GAS5, miR-126-3p and miR-23b-3p during sorafenib treatment.

Vascular anastomoses in intrauterine growth in monochorionic twins

2020 ◽  
Vol 48 (6) ◽  
pp. 539-543
Author(s):  
Michał Lipa ◽  
Przemysław Kosinski ◽  
Paweł Stanirowski ◽  
Mirosław Wielgos ◽  
Dorota Bomba-Opon
Keyword(s):  
Injection Technique ◽  
Digital Analysis ◽  
Monochorionic Twins ◽  
Intrauterine Growth ◽  
Blood Exchange ◽  
Sharing Patterns ◽  
A Prospective Study ◽  
The Impact ◽  
Umbilical Cords

AbstractObjectivesTo evaluate the impact of placental anastomoses on the intrauterine growth of monochorionic (MC) twins.MethodsA prospective study was conducted in a group of 53 MC twins. Intrapartally umbilical cords were clamped to identify placental sides corresponding to each twin. The postnatal dye injection technique was administered to evaluate vascular anastomoses, their number and type and visualize placental territory sharing patterns. Data from digital analysis were correlated with obstetrical follow-up.ResultsVascular anastomoses were revealed in 88.7% of cases. Arteriovenous (AV) anastomoses occurred in 75.4% and arterioarterial (AA) in 71.1% while venovenous (VV) in 26.4%. In the subgroup of MC twins without placental anastomoses, significantly higher birthweight difference and discordance were revealed when compared to MC twins without anastomoses (382.0 vs. 22 g; P = 0.03 and 49.14% vs. 16.02%; P = 0.03). On the other hand, in subgroups of MC twins with at least one AA anastomosis, twins’ birthweights were similar (p = ns) despite significantly higher placental territory sharing discordance (30.44% vs. 15.81%; P = 0.31).ConclusionsVascular anastomoses have a major impact on the intrauterine growth of MC twins. In certain cases, they may cause specific complications; however, in general, they regulate intertwin blood exchange and may compensate unequal placental territory.

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