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1.
medRxiv ; 2024 Apr 10.
Article in English | MEDLINE | ID: mdl-38645225

ABSTRACT

Pyruvate dehydrogenase complex deficiency (PDCD) is a disorder of mitochondrial metabolism that is caused by pathogenic variants in multiple genes, including PDHA1. Typical neonatal brain imaging findings in PDCD have been described, with a focus on malformative features and chronic encephaloclastic changes. However, fetal brain MRI imaging in confirmed PDCD has not been comprehensively described. We sought to demonstrate the prenatal neurological and systemic manifestations of PDCD determined by comprehensive fetal imaging and genomic sequencing. All fetuses with a diagnosis of genetic PDCD who had undergone fetal MRI were included in the study. Medical records, imaging data, and genetic testing results were reviewed and reported descriptively. Ten patients with diagnosis of PDCD were included. Most patients had corpus callosum dysgenesis, abnormal gyration pattern, reduced brain volumes, and periventricular cystic lesions. One patient had associated intraventricular hemorrhages. One patient had a midbrain malformation with aqueductal stenosis and severe hydrocephalus. Fetuses imaged in the second trimester were found to have enlargement of the ganglionic eminences with cystic cavitations, while those imaged in the third trimester had germinolytic cysts. Fetuses with PDCD have similar brain MRI findings to neonates described in the literature, although some of these findings may be subtle early in pregnancy. Additional features, such as cystic cavitations of the ganglionic eminences, are noted in the second trimester in fetuses with PDCD, and these may represent a novel early diagnostic marker for PDCD. Using fetal MRI to identify these radiological hallmarks to inform prenatal diagnosis of PDCD may guide genetic counseling, pregnancy decision-making, and neonatal care planning.

2.
Front Pediatr ; 12: 1373918, 2024.
Article in English | MEDLINE | ID: mdl-38450297

ABSTRACT

With advances in prenatal imaging, genetic testing, and medical treatment of premature neonates, new bioethical challenges have arisen. Many Muslims turn to their faith and religious leaders to help navigate these novel challenges. This article briefly discusses the factors that are involved in religious leaders issuing a fatwa, or religious opinion. Using clinical scenarios, this article reviews the current discourse amongst Islamic scholars and laws in Muslim-majority countries regarding challenging bioethical topics surrounding preconception counseling, antenatal testing and termination of pregnancy, as well as Islamic scholars' attempts to determine a minimum gestational age of viability using primary religious texts, the Quran and hadith. Challenges and shortcomings in the Islamic perspective on these issues are also addressed to highlight areas in which further research should be pursued. A deeper understanding of Islamic religious perspectives on these topics can help clinicians in providing care that is informed by patients' cultural and religious values.

3.
Sci Rep ; 14(1): 2499, 2024 01 30.
Article in English | MEDLINE | ID: mdl-38291095

ABSTRACT

Diabetes is a serious health issue that can be a great risk factor related to numerous physical problems. A class of drugs "Gliflozin" especially Sodium Glucose Co. Transporter 2 was inhibited by a novel drug, which is known as "empagliflozin". While ZnO nanoparticles (NPs) had considerable promise for combating diabetes, it was employed in the treatment and management of type-2 diabetes mellitus. The new drug empagliflozin was initially incorporated into Zinc Oxide NPs in this study using the surface physio-sorption technique, and the degree of drug adsorption was assessed using the HPLC method. The tailored product was characterized by using the FTIR, EDX, Ultraviolet-Visible, XRD and SEM techniques. With an average particle size of 17 nm, SEM revealed mono-dispersion of NPs and sphere-like form. The Freundlich isotherm model best fits and explains the data for the physio-sorption investigation, which examined adsorption capabilities using adsorption isotherms. The enzymes α-amylase and α-glucosidase, which are involved in the human metabolism of carbohydrates, were used in the in-vitro anti-diabetic assays. It was discovered that the composite showed the highest levels of 81.72 and 92.77% inhibition of -α-amylase and -glucosidase at an absolute concentration of 1000 µg per ml with IC50 values of 30.6 µg per ml and 72 µg per ml.


Subject(s)
Benzhydryl Compounds , Diabetes Mellitus, Type 2 , Glucosides , Metal Nanoparticles , Nanoparticles , Zinc Oxide , Humans , Zinc Oxide/pharmacology , Diabetes Mellitus, Type 2/drug therapy , Hypoglycemic Agents/pharmacology , alpha-Amylases , Anti-Bacterial Agents/pharmacology , Plant Extracts
5.
Front Pediatr ; 11: 1204941, 2023.
Article in English | MEDLINE | ID: mdl-37384311

ABSTRACT

Muslims comprise nearly a quarter of the worldwide population, with significant populations in the United States, Canada, and Europe. As clinicians, it is important to be familiar with Islamic religious and cultural perspectives on medical treatment, life-prolonging measures and comfort and palliative care, but historically, this has been a gap in the literature. Recently, there have been multiple papers discussing Islamic bioethics, particularly in regards to end of life care in adults; however, there has been a lack of literature discussing the Islamic perspective on issues related to neonatal and perinatal end of life care. This paper uses clinical scenarios to review key relevant principles of Islamic law, discussing the primary and secondary sources used in formulating fatawa, including the Quran, hadith, qiyas, and 'urf, and the importance of preservation of life and upholding of human dignity (karamah). Neonatal and perinatal scenarios are used to specifically explore the Islamic perspective on withholding and withdrawal of life-sustaining measures and determining what constitutes an acceptable quality of life. In some Islamic cultures the expertise of the patient's physician is given significant weight in making these judgments, and as such, families may appreciate frank assessment of the situation by the clinical team. Because of the various factors involved in issuing religious ruling, or fatwa, there is a wide spectrum of opinions on these rulings, and physicians should be aware of these differences, seek counsel and guidance from local Islamic leaders, and support families in their decision-making process.

6.
Front Pediatr ; 11: 1205543, 2023.
Article in English | MEDLINE | ID: mdl-37334218

ABSTRACT

Fetal neurology is a rapidly evolving and expanding field. Discussions about diagnosis, prognosis, treatment options, and goals of care often begin in the antenatal period. However, there are inherent challenges to fetal counseling of neurological diagnoses due to limitations of fetal imaging, prognostic uncertainty, and variability in neurodevelopmental outcomes. In the midst of uncertainty, families are challenged with preparing a care plan for their baby while simultaneously experiencing profound grief. The paradigms of perinatal palliative care can assist with the grieving process and help frame diagnostic testing and complex decision-making within the context of a family's spiritual, cultural, and social belief system. This ultimately leads to a shared decision-making process and value driven medical care. While perinatal palliative care programs have expanded, many families faced with such diagnoses never meet with a palliative care team prior to delivery. Moreover, there is significant variability in the availability of palliative care services throughout the country. Using an illustrative vignette of a patient with a prenatally diagnosed encephalocele, this review aims to provide a basic framework of perinatal palliative care for fetal neurology diagnoses that emphasizes 1) importance of clear, consistent, and transparent communication among all subspecialists and families, 2) creation of a palliative care birth plan, 3) importance of consistent care providers and longitudinal points of contact prenatally and post-delivery, 4) close communication between the prenatal and post-natal providers to allow for optimal continuity of care, and 5) recognize that information, care plans, and goals of care often evolve over time.

7.
ScientificWorldJournal ; 2013: 194897, 2013.
Article in English | MEDLINE | ID: mdl-24062629

ABSTRACT

Fixed point results for a self-map satisfying locally contractive conditions on a closed ball in an ordered 0-complete quasi-partial metric space have been established. Instead of monotone mapping, the notion of dominated mappings is applied. We have used weaker metric, weaker contractive conditions, and weaker restrictions to obtain unique fixed points. An example is given which shows that how this result can be used when the corresponding results cannot. Our results generalize, extend, and improve several well-known conventional results.


Subject(s)
Models, Theoretical , Nonlinear Dynamics , Algorithms , Mathematical Concepts , Metric System
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