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A comprehensive review of challenges and opportunities for stem cell research in India.
Perspect Clin Res
August 2024
Faculty of Biotechnology, Institute of Biosciences and Technology, Shri Ramswaroop Memorial University, Barabanki, UP, India.
Stem cell research is a major focus for scientific and medical communities worldwide due to the potential for stem cells to restore function lost due to disease, trauma, congenital abnormalities, and aging. Stem cells can repair, replace, or regenerate damaged cells, tissues, or organs, making them an important area of research in regenerative medicine. India is emerging as a prominent hub for the development of stem cell therapy (SCT), and it is important to assess the current state of stem cell research in India and the potential for advancement to promote stem cell-based therapy.
View Article and Find Full Text PDFOrofacial cleft research in Nigeria: a bibliometric analysis.
Sudan J Paediatr
January 2024
Faculty of Dentistry, University of Puthisastra, Phnom Penh, Cambodia.
Orofacial cleft (OC) is a group of heterogeneous congenital abnormalities affecting the orofacial region. All over the world, several studies have been conducted on OC. This study aims to analyze OC research outputs in Nigeria.
View Article and Find Full Text PDFNeonatal pseudo-hypoaldosteronism type 1 with a novel gene variant.
Sudan J Paediatr
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Department of Paediatrics, South West Acute Hospital, Enniskillen, UK.
Pseudohypoaldosteronism (PHA) is a rare disorder that mimics congenital adrenal hyperplasia (CAH). Renal type A1A of the disorder has a known gene mutation (NR3C2) and parents may be asymptomatic despite biochemical abnormalities. Meticulous interpretation of hormonal and biochemical data, and early liaison with endocrinology and renal teams are key in diagnosis.
View Article and Find Full Text PDFPhakomatosis pigmentovascularis type 2a: a rare case report.
AME Case Rep
December 2024
Department of Dermatology, King Fahad Medical City, Riyadh, Saudi Arabia.
Background: Phakomatosis pigmentovascularis (PPV) is a rare congenital cutaneous syndrome characterized by capillary malformation and extensive dermal melanosis. The complexity of PPV is reflected in its evolving classification systems. Systemic manifestations encompass ocular, neurological, vascular, musculoskeletal, and renal involvement.
View Article and Find Full Text PDFNeonatal Familiar Cleidocranial Dysplasia: A Case Report.
Am J Case Rep
January 2025
Department of Neonatology, The Fifth Affiliated Hospital of Zunyi Medical University, Zhuhai, Guangdong, China.
BACKGROUND Cleidocranial dysplasia (CCD) is a rare (1: 1 000 000) autosomal dominant congenital skeletal dysplasia characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. Only a minority of the cases are diagnosed early after birth. We present another case of proven CCD presenting with typical neonatal phenotype to promote awareness of this rare disorder.
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