Relevant bibliographies by topics / Neonatal Eye Defects

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Academic literature on the topic 'Neonatal Eye Defects'

Author: Grafiati
Published: 3 June 2025
Last updated: 31 July 2025

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Journal articles on the topic "Neonatal Eye Defects"

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Marczak, Elżbieta, Maria Szarras-Czapnik, Małgorzata Wójcik, et al. "Hypopituitarism—A rare manifestation in Joubert syndrome: about 4 cases." AIMS Medical Science 11, no. 3 (2024): 318–29. http://dx.doi.org/10.3934/medsci.2024022.

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<p>Joubert syndrome (JS) is a complex medical condition characterized by a pathognomonic midbrain-hindbrain malformation visible on brain imaging, which is known as the “molar tooth sign” (MTS). The presence of the MTS in the brain is the defining diagnostic criterion for JS. Individuals with JS commonly exhibit a developmental delay, hypotonia, and abnormal eye movements. In addition, neonatal breathing dysregulation is observed in about half of the cases. Midline brain defects associated with JS can lead to pituitary hormone abnormalities, thereby manifesting as multiple pituitary insu
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Uberos, J., L. Moreno, and A. Muñoz-Hoyos. "Hypertension and Biliary Ductopenia in a Patient with Duplication of Exon 6 of the JAG1 Gene." Clinical Medicine Insights: Pediatrics 6 (January 2012): CMPed.S9621. http://dx.doi.org/10.4137/cmped.s9621.

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We describe a neonatal patient with biliary ductopenia featuring duplication of exon 6 of the JAG1 gene. Facial alterations were observed, consisting of a prominent forehead, sunken eyes, upward slanting palpebral fissures, hypertelorism, flat nasal root and prominent chin. From birth, these were accompanied by the development of haematuria and renal failure and by renal Doppler findings indicative of peripheral renal artery stenosis. JAG1 gene mutations on chromosome 20 have been associated with various anomalies, including biliary cholestasis, vertebral abnormalities, eye disorders, heart de
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Tomazzoli, L., G. Renzi, and C. Mansoldo. "Ophthalmologic Follow-Up of Premature Twins and Triplets." European Journal of Ophthalmology 13, no. 5 (2003): 439–44. http://dx.doi.org/10.1177/112067210301300504.

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Purpose To assess the influence of multiple gestation on the visual apparatus and on the general state of health of premature infants and to investigate the condition of the twin or triplet with the lowest birth weight compared to multiple gestation siblings. Methods Seventy-seven premature twins or triplets (8 to 54 months of age) were monitored at the Verona University Ophthalmology Department from November 1995 to November 1999. In another 12 subjects (younger than 8 months), only the neonatal disease records were examined; these subjects were excluded from the ophthalmologic follow-up beca
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Sati, Leyla, Caroline Zeiss, Krishna Yekkala, Ramazan Demir та James McGrath. "Expression of theCTCFLGene during Mouse Embryogenesis Causes Growth Retardation, Postnatal Lethality, and Dysregulation of the Transforming Growth Factor β Pathway". Molecular and Cellular Biology 35, № 19 (2015): 3436–45. http://dx.doi.org/10.1128/mcb.00381-15.

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CTCFL, a paralog ofCTCF, also known asBORIS(brother of regulator of imprinted sites), is a testis-expressed gene whose function is largely unknown. Its product is a cancer testis antigen (CTA), and it is often expressed in tumor cells and also seen in two benign human vascular malformations, juvenile angiofibromas and infantile hemangiomas. To understand the function ofCtcfl, we created tetracycline-inducibleCtcfltransgenic mice. We show thatCtcflexpression during embryogenesis results in growth retardation, eye malformations, multiorgan pathologies, vascular defects, and neonatal death. This
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Islam, Md Saiful, Manisha Banerjee, Tafazzal Hossain Khan, et al. "Pattern of Birth Defects, Association And Their Outcomes Among Neonates In A Tertiary Care Hospital In Bangladesh." Journal of Dhaka Medical College 32, no. 1 (2024): 43–50. http://dx.doi.org/10.3329/jdmc.v32i1.76423.

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Introduction: Birth defects are one of the major cause of stillbirths and neonatal mortality in developed and developing countries. The prevalence of birth defects varies in different parts of the world. In many cases, the causes are unknown; however, several factors known to be associated are genetic factors, maternal age, health, dietary factors, maternal infections, geographical factors, drugs, smoking and irradiation. Objectives: To identify the pattern of birth defects, association and their outcomes among neonates Methodology: This observational cross-sectional study was conducted in the
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Putri Humaira, Tabina, Queen Choirunisa Tansa Tresna Tresna, Tsabita Aurelia Nugrohoputri, Luisa Ziesta Dian Apsari, Syifa Annisa Fatoni, and Tunjung Wibowo. "Multidisciplinary Approach of Neonatal Intensive Care in Bam Syndrome: A Rare Case Report." Proceedings Book of International Conference and Exhibition on The Indonesian Medical Education Research Institute 8, no. - (2025): 110–16. https://doi.org/10.69951/proceedingsbookoficeonimeri.v8i-.253.

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Bosma Arhinia Microphthalmia Syndrome (BAMS) is a very rare condition characterized by eye defects, a complete absence of nose, and hypogonadotropic hypogonadism, which is caused by a genetic mutation in the gene SMCHD1 located in chromosome 18p11. Fewer than 100 cases were reported globally over the previous century, and only a few clinical studies have discussed its occurrence and management in Indonesia. Therefore, there are no clear guidelines about the management of neonates with BAMS due to its rarity. This study reported a BAMS neonatal patient with atresia choana, microphthalmia, pectu
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Ogura, Hiromi, Shouichi Ohga, Takako Aoki, et al. "COL4A1 is a Novel Causative Gene Responsible for Congenital Hemolytic Anemia, Representing Characteristic Clinical Course in Infants." Blood 126, no. 23 (2015): 934. http://dx.doi.org/10.1182/blood.v126.23.934.934.

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Abstract We have been working on the differential diagnosis of congenital hemolytic anemia, but even with extensive analysis of hemoglobin, red cell membrane and enzymes, approximately 40% of patients remained to be diagnosed. In this study, we analyzed 17 undiagnosed hemolytic anemia subjects under the age of 1 by whole-exome sequencing, and identified COL4A1 gene mutations in 5 cases (29.4%). All patients were de novo cases without family histories and exhibited moderate to severe neonatal hemolytic anemia: Hgb, 5.2-9.3 g/dl; MCV, 90.0-126.9; MCHC, 29.9-32.7; and reticulocyte count, 9.2-33.0
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Pearce, B. L., J. A. Owens, M. Dziadek, et al. "162. THE EFFECT OF MATERNAL FOLIC ACID SUPPLEMENTATION THROUGHOUT PREGNANCY ON NEURODEVELOPMENT, MOTOR FUNCTION AND BEHAVIOUR OF PROGENY IN THE RAT." Reproduction, Fertility and Development 21, no. 9 (2009): 80. http://dx.doi.org/10.1071/srb09abs162.

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Background: Maternal folic acid supplementation (mFAS) during early pregnancy is recommended to reduce the incidence of neural tube defects and has recently been associated with improved neurodevelopment in children. However, the effect on neurodevelopment of mFAS from before conception and throughout pregnancy is unknown. We examined the effect of mFAS throughout the gestational period on postnatal growth, neurodevelopment and early adult motor function and behaviour in rat offspring. Methods: Female Wistar Rats were fed either a control (folic acid 2mg/kg, n=6) or moderate mFAS diet (folic a
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9

Gregory, Louise Cheryl, and Mehul Tulsidas Dattani. "The Molecular Basis of Congenital Hypopituitarism and Related Disorders." Journal of Clinical Endocrinology & Metabolism 105, no. 6 (2019): e2103-e2120. http://dx.doi.org/10.1210/clinem/dgz184.

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Abstract Context Congenital hypopituitarism (CH) is characterized by the presence of deficiencies in one or more of the 6 anterior pituitary (AP) hormones secreted from the 5 different specialized cell types of the AP. During human embryogenesis, hypothalamo–pituitary (HP) development is controlled by a complex spatio-temporal genetic cascade of transcription factors and signaling molecules within the hypothalamus and Rathke’s pouch, the primordium of the AP. Evidence Acquisition This mini-review discusses the genes and pathways involved in HP development and how mutations of these give rise t
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Finnegan, Paula, Nicholas Clarke, John Twomey, Orla Neylon, and Muriel Sadlier. "P02 A case of congenital panhypopituitarism unmasked by PHACE screening." British Journal of Dermatology 189, no. 3 (2023): e44-e44. http://dx.doi.org/10.1093/bjd/ljad259.012.

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Abstract PHACE syndrome is a rare neurocutaneous disorder referring to the association of segmental infantile haemangiomas (IH) with congenital brain, arterial, cardiac, eye and mid-line anomalies. Endocrinopathies have infrequently been reported with PHACE syndrome. We present a case of congenital panhypopituitarism detected during PHACE workup. A 7-week-old girl presented with a large 4 × 4 cm superficial partially segmental IH on the mid-neck and three small superficial IHs on the scalp and trunk. She was born at term following an uncomplicated pregnancy. She had a 10-day NICU admission for
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Book chapters on the topic "Neonatal Eye Defects"

1

Tartaglia, Marco, and Bruce D. Gelb. "RAS Signaling Defects and Noonan Syndrome." In Inborn Errors Of Development. Oxford University PressNew York, NY, 2008. http://dx.doi.org/10.1093/oso/9780195306910.003.0063.

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Abstract Moonan syndrome (OMIM 163950) is a pleomorphic disorder affecting the cardiovascular, craniofacial, skeletal, hematopoietic, lymphatic, and central nervous systems. It can result from mutations in the PTPN11 gene, which encodes the protein tyrosine phosphatase (PTP), Src homology 2 (SHP-2), or the KRAS gene, which encodes a RAS GTPase. The disorder is generally transmitted as an autosomal dominant trait, although many cases result from de novo mutations. Defects in the PTPN11 gene, which resides at chromosomal band 12q24.1, account for approximately 50% of cases. The more than 60 muta
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Juliani, Alisson, Giovanna Costa Moura Velho, Fernanda Rabelo Vieira, and Larissa da Silva. "Congenital diaphragmatic hernia: New evidence and current and future therapeutic options." In Eyes on Health Sciences V.02. Seven Editora, 2024. http://dx.doi.org/10.56238/sevened2024.001-042.

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Objectives: To compile the information available in the medical literature and to present the new forms of intervention possible for fetuses and neonates affected by congenital diaphragmatic hernia (CDH). Methodology: a non-systematic literature review of the medical literature was carried out, using the LILACS, SciELO and PubMed databases, with no established period, prioritizing higher levels of scientific evidence. Results: CDH consists of a defect in the embryological closure of the diaphragm, resulting in protrusion of abdominal contents into the thorax. Although rare, CDH imposes signifi
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