Unique Female Patient with de novo 6q22.31q27 Duplication and Xq28 Deletion: Case Report and Brief Literature Review
Abstract
Volume 8,Issue 3
Unique Female Patient with de novo 6q22.31q27 Duplication and Xq28 Deletion: Case Report and Brief Literature Reviewby
Lamiae Afif
,
Zhour El Amrani
,
Aziza Sbiti
,
Ilham Ratbi
,
Imane Cherkaoui Jaouad
,
Youssef El Kadiri
,
Thomas Liehr
,
Abdelaziz Sefiani
and
Abdelhafid Natiq
Abstract 6q22.31q27 duplication and Xq28 deletion lead to two specific different rare chromosomal disorders. Partial trisomy 6q22.31q27 is a recognizable syndrome with a distinctive phenotype, and the most common finding in girls with Xqter deletions has been premature ovarian failure (POF) and secondary amenorrhea. To our knowledge, neither abnormality in one patient has yet been reported. A 10-year-old girl with de novo 6q22.31q27 duplication and Xq28 deletion was diagnosed by chromosomal m [...] |
Case Studies in the Ethics of Assisted Reproduction, by Louise P. King & Isabelle C. Band, Switzerland: Springer Cham, 152 Pages, Ebook, 978-3-031-41215-8Abstract "Case Studies in the Ethics of Assisted Reproduction" explores the moral and ethical implications of assisted reproductive technologies (ART), such as in vitro fertilization (IVF), surrogacy, and genetic screening. These findings outline ethical dilemmas, including the importance of informed consent, and highlight a multidisciplinary approach involving law, bioethics, reproductive endocrinology, and reproductive biology. Using case studies, the findings address ethical challenges in AR [...] |
A Child Carrying a Large Deletion in the 10p.15.3-p12.31 RegionAbstract Partial deletion of 10p is a rare disorder. Common features of this disorder include intellectual disability, developmental delay, dysmorphic features, hypoparathyroidism, deafness, and renal anomalies, but the phenotypes can vary between patients. We report an infant girl presented with global developmental delay, distinctive facial features with cleft lip, congenital exotropia, laryngomalacia, atrial septal defect, and sensorineural hearing loss. 46, XX, del (10p→ter) was observed on the G-ban [...] |
Phenylketonuria—Past, Present, and Future Directionsby
Nicole A. Bailey
and
Laura Mackay
Abstract Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism with an incidence that varies throughout the world. PKU is caused by loss of function variants in the phenylalanine hydroxylase gene. This loss of function leads to the accumulation of an amino acid, phenylalanine (Phe), that can reach toxic levels in the blood. PKU is managed with a medical diet and sometimes with medication. If diagnosed early and with strict dietary control, neurocognitive deficits can be p [...] |
Miscarriages after Natural Conception & IVF: Comparative Study of Genetic Analysis of Products of Conceptionby
Elena V. Kudryavtseva
,
Sergey N. Fedenev
,
Ilia V. Kanivets
,
Anastasiya N. Troitskaya
and
Vladislav V. Kovalev
Abstract Assisted reproductive technologies (ART), including in vitro fertilization (IVF), are modern medical technologies widely used in developed countries. A frequent complication of pregnancy resulting from ART is miscarriage. The leading cause of miscarriage, both sporadic and recurrent, is chromosomal abnormalities (CA) of the embryo. To compare the frequency and structure of chromosomal abnormalities (CA) of the embryo during miscarriages after IVF and natural [...] |
Exploring Multitargets Treatment for Diabetesby
Bolanle Adenike Akinsanola
,
Matthew Iyobhebhe
,
Tobiloba Christianah Maduakolam-Aniobi
,
Tomilola Debby Olaolu
,
Damilare Emmanuel Rotimi
and
Oluwafemi Adeleke Ojo
Abstract Diabetes Mellitus (DM) is a degenerative disease that modifies the body’s glucose metabolism. Although glucose is a vital energy source for body cells, individuals with diabetes can either not use insulin efficiently or do not create enough of this hormone, which controls blood sugar. This review aimed to explore the multi-target treatment for diabetes.
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Blinatumomab vs Chemotherapy for Pediatric and Adult Acute Lymphoblastic LeukemiaAbstract Several therapeutic methods are used to cure acute lymphoblastic leukemia (ALL). Relapsed/refractory B-cell ALL (R/R B-ALL) remains the primary cause of death worldwide due to the limitation of cure. Blinatumomab is a bispecific T-cell engaging antibody used to treat R/R B-ALL. The use of blinatumomab for treating R/R B-ALL has shown to be very efficient, especially as a bridg [...] |
Potential Use of Human Mesenchymal Stem Cells (hMSCs) in Pancreatic Damage/CancerAbstract Pancreatic damage and pancreatic cancer pose significant challenges due to their complex pathogenesis, limited treatment options, and poor prognosis. In recent years, the potential use of human Mesenchymal Stem Cells (hMSCs) has been explored to address these complex pancreatic conditions and develop novel therapeutics. hMSCs, known for their regenerative and immunomodulatory properties, offer a novel therapeutic avenue for repairing damaged tissues and possibly inhibiting cancer progression. Th [...] |
A Narrative Review on the Use of Eye-Tracking in Rett Syndrome: Implications for Diagnosis and TreatmentAbstract Rett syndrome (RTT) is a rare neurodevelopmental disorder primarily affecting females, characterized by a spectrum of debilitating symptoms that impact neurological, cognitive, and motor functions. Eye-tracking technology (ETT) has emerged as a prominent tool in Augmentative and Alternative Communication (AAC) systems, particularly for neurological patients with motor and verbal impairments. This narrative review aimed to evaluate stu [...] |
Causes of Chromosome Breakage and Mis-segregation Affecting Pregnancy and Newborn Health: An Insight into Developing Reproductive Health Preventive Strategiesby
Oyovwi Mega Obukohwo
,
Peggy Ejiro Ohwin
,
Rotu Arientare Rume
,
Olowe Gideon Temitope
,
Oyelere Abosede Oreoluwa
and
Adelowo Joy Motunrayo
Abstract Chromosome abnormalities are a leading cause of pregnancy loss, developmental delays, and birth defects. These abnormalities arise from errors in chromosome structure (breakage) or number (missegregation) during cell division. Understanding the causes of these errors is crucial for developing effective preventive strategies to improve reproductive health. This paper aims to review the known causes of chromosome breakage and mis-segregation, emphasizing their impact on pregnancy and n [...] |
Hormonal and Physiological Manipulation Methods to Induce Polycystic Ovary in Rodents: A Review of the New FindingsAbstract Polycystic ovary syndrome (PCOS) is the most common endocrinopathy causing non-ovulation infertility in women. Women with PCOS have higher levels of luteinizing hormone (LH), testosterone, cholesterol and triglycerides but, in contrast, lower levels of follicular stimulating hormone (FSH) and sex hormone-binding globulin (SHBG) compared with healthy counterparts. Because of the limitations of human studies, animal models of PCOS have been developed to identify appropriate therapeutics and to exp [...] |
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