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Journal articles on the topic 'Neonatal Eye Defects'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

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1

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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3

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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5

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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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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Vadakedom, Suresh S., Deepa K. Krishnan, Darly Saramma Mammen, Bindhu K. P., and Jiji Mary Antony. "Medical problems in children with Down syndrome." International Journal of Advances in Medicine 5, no. 5 (2018): 1290. http://dx.doi.org/10.18203/2349-3933.ijam20183910.

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Background: Down syndrome (DS) is a major cause of mental retardation of prenatal origin and has several associated co-morbidities involving cardiovascular system, respiratory, endocrine system, hematological, gastrointestinal, musculoskeletal, eye and ear defects, immunological changes and neurological system. This study was conducted to identify the common medical problems in children with Down syndrome and the morbidity associated with these conditions. The objective of the present study was to find out the occurrence of different medical problems in children with DS.Methods: 42 children wi

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12

Rodrigues, Carina, Paula Jorge, José Pires Soares, et al. "Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism." European Journal of Endocrinology 152, no. 2 (2005): 193–98. http://dx.doi.org/10.1530/eje.1.01826.

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Objective: Defects in the human thyroid peroxidase (TPO) gene are reported to be one of the causes of congenital hypothyroidism (CH) due to a total iodide organification defect. The aim of the present study was to determine the nature and frequency of TPO gene mutations in patients with CH, characterised by elevated TSH levels and orthotopic thyroid gland, identified in the Portuguese National Neonatal Screening Programme. Subjects and methods: The sample comprised 55 patients, from 53 unrelated families, with follow-up in the endocrinology clinics of the treatment centres of Porto and Lisbon.

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13

Fernández-Rebollo, Eduardo, Beatriz Lecumberri, Intza Garin, et al. "New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism." European Journal of Endocrinology 163, no. 6 (2010): 953–62. http://dx.doi.org/10.1530/eje-10-0435.

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PurposeType I pseudohypoparathyroidism (PHP-I) can be subclassified into Ia and Ib, depending on the presence or absence of Albright's hereditary osteodystrophy's phenotype, diminished α-subunit of the stimulatory G protein (Gsα) activity and multihormonal resistance. Whereas PHP-Ia is mainly associated with heterozygous inactivating mutations in Gsα-coding exons ofGNAS, PHP-Ib is caused by imprinting defects ofGNAS. To date, just one patient with PHP and complete paternal uniparental disomy (UPD) has been described.We sought to identify the underlining molecular defect in twenty patients with

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14

Maamouri, Rym, Molka Ferchichi, Amel Ben Chehida, and Monia Cheour. "A Case of Infantile Cataract and Neonatal Hypoglycemia." Journal of Current Ophthalmology 35, no. 3 (2023): 291–93. http://dx.doi.org/10.4103/joco.joco_353_22.

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Purpose: To describe a case of lamellar cataract in a child with a history of neonatal hypoglycemia and illustrate the importance of meticulous history-taking in children with cataracts, especially before planning surgery. Methods: A single case report. Results: A 7-year-old girl with a history of neonatal hypoglycemia and ketoacidosis with high suspicion of a primary defect in ketone body utilization who presented with bilateral progressive blurred vision. Her best-corrected visual acuity (BCVA) was 20/200 in her right eye (OD) and 20/400 in her left eye (OS). Slit-lamp examination showed the

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Maruo, Yoshihiro, Keisuke Nagasaki, Katsuyuki Matsui, et al. "Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty." European Journal of Endocrinology 174, no. 4 (2016): 453–63. http://dx.doi.org/10.1530/eje-15-0959.

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AimWe previously reported that biallelic mutations in dual oxidase 2 (DUOX2) cause transient hypothyroidism. Since then, many cases with DUOX2 mutations have been reported. However, the clinical features and prognosis of individuals with DUOX2 defects have not been clarified.ObjectiveWe investigated the prognosis of patients with congenital hypothyroidism (CH) due to DUOX2 mutations.PatientsTwenty-five patients were identified by a neonatal screening program and included seven familial cases. Their serum TSH values ranged from 18.9 to 734.6 mU/l. Twenty-two of the patients had low serum free t

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Carmona, Suzanne Marie G., Mary Ann R. Abacan, and Maria Melanie Liberty B. Alcausin. "Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing." International Journal of Neonatal Screening 9, no. 1 (2023): 4. http://dx.doi.org/10.3390/ijns9010004.

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Carnitine-acylcarnitine translocase deficiency (CACTD), a fatty acid oxidation defect (FAOD), can present in the neonatal period with non-specific findings and hypoglycemia. A high index of suspicion is needed to recognize the disorder. The case is of a 24-year-old G2P2(2000) mother who sought consultation for recurrent neonatal deaths. The neonates, born two years apart, were apparently well at birth but had a fair cry and no spontaneous eye opening within the first 24 h of life and died before the 72nd hour of life. Newborn screening of both babies revealed elevated long chain acylcarnitines

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Persani, Luca, and Davide Calebiro. "Consequences of the Use of Low Blood-spot Thyroid-stimulating Hormone Cut-offs for the Neonatal Screening of Congenital Hypothyroidism." European Endocrinology 05 (2009): 64. http://dx.doi.org/10.17925/ee.2009.05.00.64.

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The consequences of using low blood-spot thyroid-stimulating hormone (b-TSH) cut-off values for newborn screening of congenital hypothyroidism (CH) are largely unknown. Therefore, the impact on CH epidemiology and classification generated by the introduction in our Italian region of a low b-TSH cut-off during 1999–2005 was retrospectively examined. This work was recently performed in collaboration with the Laboratory for Neonatal Screening and the Principal Follow-up Centre of the Lombardy region. The incidence of CH in this Italian population was 1:1,446 live births, with a predominance of fu

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Peters, C., A. S. P. van Trotsenburg, and N. Schoenmakers. "DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives." European Journal of Endocrinology 179, no. 6 (2018): R297—R317. http://dx.doi.org/10.1530/eje-18-0383.

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Congenital hypothyroidism (CH) may be primary, due to a defect affecting the thyroid gland itself, or central, due to impaired thyroid-stimulating hormone (TSH)-mediated stimulation of the thyroid gland as a result of hypothalamic or pituitary pathology. Primary CH is the most common neonatal endocrine disorder, traditionally subdivided into thyroid dysgenesis (TD), referring to a spectrum of thyroid developmental abnormalities, and dyshormonogenesis, where a defective molecular pathway for thyroid hormonogenesis results in failure of hormone production by a structurally intact gland. Delayed

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Bornman, R., T. de Jager, and Z. Worku. "Indoor Residual Spraying (IRS) of DDT Is Associated With Urogenital Birth Defects in Neonates." Epidemiology 18, Suppl (2007): S78. http://dx.doi.org/10.1097/01.ede.0000288992.25499.c3.

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Shabaan, Asmaa, Samir Nouh, Mahmoud Kammar, and Howaida Ahmed. "Surgical Studies on Disorders of Eyes, Mouth and Nose in domestic dogs: A Retrospective Clinical Study." Alexandria Journal of Veterinary Sciences 77, no. 1 (2023): 144. http://dx.doi.org/10.5455/ajvs.89028.

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This study was aimed to describe the most frequently recorded disorders in dogs in Alexandria Government and provides a prevalence baseline against which to measure progress in canine health. The surgical conditions affecting the eyes, mouth and nose and its surrounding structures are numerous. These conditions affect adversely the general health condition of the animal as it is causing disruption of the important biological processes in the body. In the present study, a total number of 422 pet animals suffering from different surgical conditions were recorded. The surgical conditions of the e

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Mayr, Bernhard, Dirk Schnabel, Helmuth-Günther Dörr, and Christof Schöfl. "GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts." European Journal of Endocrinology 174, no. 5 (2016): R189—R208. http://dx.doi.org/10.1530/eje-15-1028.

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The calcium-sensing receptor (CASR) is the main calcium sensor in the maintenance of calcium metabolism. Mutations of theCASR, the G protein alpha 11 (GNA11) and the adaptor-related protein complex 2 sigma 1 subunit (AP2S1) genes can shift the set point for calcium sensing causing hyper- or hypo-calcemic disorders. Therapeutic concepts for these rare diseases range from general therapies of hyper- and hypo-calcemic conditions to more pathophysiology oriented approaches such as parathyroid hormone (PTH) substitution and allosteric CASR modulators. Cinacalcet is a calcimimetic that enhances rece

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Breuer, Oded, Maha Abdulhadi-Atwan, Sharon Zeligson, et al. "A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia." European Journal of Endocrinology 167, no. 2 (2012): 209–16. http://dx.doi.org/10.1530/eje-12-0127.

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BackgroundKisspeptin 1 receptor (KISS1R) gene mutations are rare but have recently become an important etiology of normosmic isolated hypogonadotropic hypogonadism (IHH).ObjectivesTo characterize the genetic defect, the phenotype, and response to therapy of three IHH siblings with a novel severe KISS1R mutation.Patients and methodsThree siblings (16- and 22-year-old sisters and their 20-year-old brother) born to consanguineous parents with normal neonatal external genitalia presented with no pubertal development, normosmia, and a low response to GNRH stimulation. Homozygosity mapping, KISS1R g

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Medda, Emanuela, Antonella Olivieri, Maria Antonietta Stazi, et al. "Risk factors for congenital hypothyroidism: results of a population case-control study (1997–2003)." European Journal of Endocrinology 153, no. 6 (2005): 765–73. http://dx.doi.org/10.1530/eje.1.02048.

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Objective: To identify risk factors for permanent and transient congenital hypothyroidism (CH). Design: A population-based case-control study was carried out by using the network created in Italy for the National Register of Infants with CH. Methods: Four controls were enrolled for each new CH infant; 173 cases and 690 controls were enrolled in 4 years. In order to distinguish among risk factors for permanent and transient CH, diagnosis was re-evaluated 3 years after enrolment when there was a suspicion of transient CH being present. Familial, maternal, neonatal and environmental influences we

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Riepe, Felix G., Wiebke Ahrens, Nils Krone, et al. "Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene." European Journal of Endocrinology 152, no. 4 (2005): 515–19. http://dx.doi.org/10.1530/eje.1.01879.

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Objective: To clarify the molecular defect for the clinical finding of congenital hypothyroidism combined with the manifestation of calcinosis cutis in infancy. Case report: The male patient presented with moderately elevated blood thyrotropin levels at neonatal screening combined with slightly decreased plasma thyroxine and tri-iodothyronine concentrations, necessitating thyroid hormone substitution 2 weeks after birth. At the age of 7 months calcinosis cutis was seen and the patient underwent further investigation. Typical features of Albright’s hereditary osteodystrophy (AHO), including rou

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Rey, Rodolfo, and Nathalie Josso. "Regulation of testicular anti-Müllerian hormone secretion." European Journal of Endocrinology 135, no. 2 (1996): 144–52. http://dx.doi.org/10.1530/eje.0.1350144.

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Rey R, Josso N. Regulation of testicular anti-Müllerian hormone secretion. Eur J Endocrinol 1996; 135:144–52. ISSN 0804–4643 Anti-Müllerian hormone (AMH) is a glycoprotein secreted by Sertoli cells from the time of testicular differentiation and is responsible for the regression of Müllerian ducts in the male fetus. The chronology of AMH expression is very important because Müllerian ducts lose their responsiveness a few days after AMH secretion begins, which suggests that the AMH gene is under precise transcriptional control. Steroidogenic factor 1 (SF-1) is the only transcriptional regulator

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Hossain, Md Mofazzol, Showkat Hayat, Mohammad Bokhtier Howlader, and Nazmul Hamid. "Hearing and Visual Impairment in Children with Cerebral Palsy, A Study in Tertiary Level Hospital in Bangladesh." Annals of International Medical and Dental Research 9, no. 2 (2023): 172–79. http://dx.doi.org/10.53339/aimdr.2023.9.26.

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Background: Cerebral palsy (CP) is a diagnostic term used to describe a group of motor syndromes resulting from disorders of early brain development. CP remains unexplained in most cases and is typically diagnosed outside the neonatal period. Visual impairment decreases the quality of life and hearing impairment hampers linguistic development. This study aimed to observe the visual and hearing impairment of children with cerebral palsy associated with developmental disabilities. Material Methods: This is a cross-sectional observational descriptive study carried out in the department of Paediat

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Spencer, T. E. "003.Uterine and placental factors regulating conceptus growth: insights from the ewe." Reproduction, Fertility and Development 16, no. 9 (2004): 3. http://dx.doi.org/10.1071/srb04abs003.

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Uterine adenogenesis is the process whereby endometrial glands differentiate and develop and is primarily a postnatal event in all mammals. In domestic animals and humans, adenogenesis involves initial differentiation and budding of glandular epithelium followed by invagination and extensive tubular coiling and branching morphogenesis through the endometrial stroma to the myometrium. Transient exposure of the neonatal ewe to a progestin from birth to postnatal Day 56 resulted in a uterine gland knock out (UGKO) phenotype in the adult. UGKO ewes exhibit a peri-implantation defect in conceptus (

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Garcete Mañotti, Lidia. "El desafío de la fibrosis quística en Paraguay: una visión del camino recorrido." Pediatría (Asunción) 46, no. 1 (2019): 3–5. http://dx.doi.org/10.31698/ped.46012019001.

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La fibrosis quística (FQ) constituye un trastorno hereditario complejo multisistémico, de evolución crónica y de gran heterogenicidad clínica. Afecta a la mayoría de los órganos, siendo el páncreas y los pulmones los más comprometidos, determinando la morbimortalidad. Desde sus primeras descripciones se ha recorrido un largo camino, en el que, gracias a técnicas de biología y genética molecular, se ha identificado el defecto básico y se comienza a vislumbrar la posibilidad de curación. Ella refleja la evolución de la medicina de las últimas décadas, pues en poco más de 60 años se ha pasado de

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Davydova, Yu V. "Preconception preparation for pregnancy." Infusion & Chemotherapy, no. 3.2 (December 15, 2020): 72–74. http://dx.doi.org/10.32902/2663-0338-2020-3.2-72-74.

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Background. Experience in high-risk obstetrics shows that a significant part of the determining factors affects the woman and the fetus before the first visit to the doctor. Improving a woman’s health before conception can improve her reproductive performance and reduce financial costs spent on obstetric medical aid. Objective. Describe the key concepts of preconception training. Materials and methods. Analysis of literature sources on this topic; own study involving 42 pregnant women (22 women with systemic lupus erythematosus (SLE), 20 women with congenital heart disease (CHD) an

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Uribe Ardila, Alfredo. "Enfermedades huérfanas en Colombia: una panorámica a través de los errores innatos del metabolismo." Revista Med 26, no. 2 (2019): 5–6. http://dx.doi.org/10.18359/rmed.4432.

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Cuando se habla de enfermedades huérfanas en Colombia, generalmente las ideas giran en torno a las leyes que fueron promulgadas durante 2010 y 2011, Ley 1392 de 2010 (1) y Ley 1438 de 2011 (2), después de la fuerte presión de grupos científicos, médicos y sociedades de pacientes. Fundamentalmente se hace referencia a aquellas enfermedades crónicas y debilitantes, de naturaleza grave hasta el punto de que amenazan la vida y cuya prevalencia bordea 1 de cada 5000 personas. Pero en la más profunda reflexión, esta definición solo fue una formalidad, para darles un estatus legal a unas enferm

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CSCI, _. "CSCI Young Investigators Forum Abstracts." Clinical & Investigative Medicine 32, no. 4 (2009): 1. http://dx.doi.org/10.25011/cim.v32i4.6623.

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ASSESSMENT OF PARALLEL SIGNALING PATHWAYS IN UTERINE MYOCYTES STIMULATED WITH VARIOUS SMOOTH MUSCLE AGONISTS H.N. Aguilar, B.F. Mitchell 1 TRACTOGRAPHY: A NOVEL TECHNIQUE TO IMAGE FIBER TRACTS OF THE SPINAL CORD Fahad Alkherayf, Eve Tsai, Arturo Cardenas-Blanco, Alain Berthiaume, Brien Benoit, John Sinclair 1 MODULATION OF OSTEOCLASTOGENESIS IN INFLAMMATORY JOINT DISEASES H. Allard-Chamard, M. Durant, A.J. de Brum-Fernandes, G. Boire, S.V. Komarova, S.J. Dixon, S.M. Sims, R. Harison, M.F. Manolson 2 “THE RIGHT THING TO DO? A CRITICAL ANALYSIS OF PUBLIC HEALTH ETHICS, RIGHTS DISCOURSE, AND THE

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RK, Upadhyay. "Neonatal Eye Defects and Stem Cell Therapeutics." International Journal of Stem Cell Research and Transplantation, August 26, 2016, 195–215. http://dx.doi.org/10.19070/2328-3548-1600032.

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Upadhyay, RK. "Neonatal Eye Defects and Stem Cell Therapeutics." August 26, 2016. https://doi.org/10.19070/2328-3548-1600032.

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Present review aims to describe various neonatal eye defects and its stem cell therapeutics. This article attempts to highlight common causes of visual impairment in infants and present the recent approaches used for restoration of normal vision in patients. The article highlights the need for setting microenvironment or stem cell micro niche for regeneration of opticneural complexes. Till date no proven drug based treatment existed for inherited eye defects. By adopting different therapeutic measures causal effects can be improved. The article advocates cell based therapeutics for wound heali

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Paudel, Prajwal, Avinash K. Sunny, Rejina Gurung, et al. "Burden and consequence of birth defects in Nepal-evidence from prospective cohort study." BMC Pediatrics 21, no. 1 (2021). http://dx.doi.org/10.1186/s12887-021-02525-2.

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Abstract Background Every year an estimated 7.9 million babies are born with birth defect. Of these babies, more than 3 million die and 3.2 million have disability. Improving nationwide information on prevalence of birth defect, risk factor and consequence is required for better resource allocation for prevention, management and rehabilitation. In this study, we assess the prevalence of birth defect, associated risk factors and consequences in Nepal. Method This is a prospective cohort study conducted in 12 hospitals of Nepal for 18 months. All the women who delivered in the hospitals during t

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Doddato, Gabriella, Alessandra Fabbiani, Chiara Fallerini, et al. "Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype." Frontiers in Genetics 12 (December 3, 2021). http://dx.doi.org/10.3389/fgene.2021.761264.

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Spondyloocular syndrome (SOS) is a skeletal disorder caused by pathogenic variants in XYLT2 gene encoding a xylotransferase involved in the biosynthesis of proteoglycans. This condition, with autosomal recessive inheritance, has a high phenotypic variability. It is characterized by bone abnormalities (osteoporosis, fractures), eye and cardiac defects, hearing impairment, and varying degrees of developmental delay. Until now only 20 mutated individuals have been reported worldwide. Here, we describe two siblings from consanguineous healthy parents in which a novel homozygous frameshift variant

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Zhao, Minglei, Tingfang Mei, Bizhi Shang, et al. "Defect of LSS Disrupts Lens Development in Cataractogenesis." Frontiers in Cell and Developmental Biology 9 (December 2, 2021). http://dx.doi.org/10.3389/fcell.2021.788422.

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Congenital cataract is one of the leading causes of blindness in children worldwide. About one-third of congenital cataracts are caused by genetic defects. LSS, which encodes lanosterol synthase, is a causal gene for congenital cataracts. LSS is critical in preventing abnormal protein aggregation of various cataract-causing mutant crystallins; however, its roles in lens development remain largely unknown. In our study, we generated a mouse model harboring Lss G589S mutation, which is homologous to cataract-causing G588S mutation in human LSS. LssG589S/G589S mice exhibited neonatal lethality at

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Norwood, William. "Complex Heart Defects of the Neonate: A Personal View." Circulation 126, suppl_21 (2012). http://dx.doi.org/10.1161/circ.126.suppl_21.a605.

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I believe pediatric cardiologists and congenital heart surgeons must and do work hand-in-glove like no other medical/surgical specialists. Helen Brook Taussig and Alfred Blalock were an early testament to such a notion, albeit I understand Doctor Taussig didn't fully embrace the concept of reparative surgery for tetralogy of Fallot late in her career at Johns Hopkins University. One evening in the late 1970s I walked through the ICU and there in the corner was a normal looking baby swaddled in a blanket. “Who is this,” I asked. “She's a cardiology patient. She's going to die, nothing can be do

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Xia, Changqing, Dibyendu Kumar, Bei You, et al. "Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature." Journal of Pediatric Genetics, June 26, 2021. http://dx.doi.org/10.1055/s-0041-1729751.

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AbstractWolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion condition. The WHS core phenotype includes developmental delays, intellectual disabilities, seizures, and distinctive facial features. Various other comorbidities have also been reported, such as hearing loss, heart defects, as well as eye problems and kidney problems. In this report, we present a case of WHS accompanied by hyperparathyroidism and hypercalcemia, which has not been previously reported. A girl was born at 37 weeks of gestation by vaginal delivery. She was small for the gestational age (2,045 g) and admitted to

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Guzelkaya, Metehan, Ebru Onal, Emine Gelinci, Abdullah Kumral, and Gulcin Cakan-Akdogan. "A zebrafish model for studying the mechanisms of newborn hyperbilirubinemia and bilirubin-induced neurological damage." Frontiers in Cell and Developmental Biology 11 (November 14, 2023). http://dx.doi.org/10.3389/fcell.2023.1275414.

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Unresolved neonatal hyperbilirubinemia may lead to the accumulation of excess bilirubin in the body, and bilirubin in neural tissues may induce toxicity. Bilirubin-induced neurological damage (BIND) can result in acute or chronic bilirubin encephalopathy, causing temporary or lasting neurological dysfunction or severe damage resulting in infant death. Although serum bilirubin levels are used as an indication of severity, known and unknown individual differences affect the severity of the symptoms. The mechanisms of BIND are not yet fully understood. Here, a zebrafish newborn hyperbilirubinemia

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Serra, Linda, Anna Nordin, Mattias Jonasson, et al. "SOX2 and NR2F1 coordinate the gene expression program of the early postnatal visual thalamus." Biology Open, July 9, 2025. https://doi.org/10.1242/bio.062014.

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The thalamic dorsolateral geniculate nucleus (dLGN) receives visual input from the retina via the optic nerve, and projects to the cortical visual area, where eye-derived signals are elaborated. The transcription factors SOX2 and NR2F1 are directly involved in the differentiation of dLGN neurons, based on mouse work and patient mutations leading to vision defects. However, whether they regulate each other, or control common targets is still unclear. By RNA-seq analysis of neonatal dLGN from thalamo-specific Sox2 and Nr2f1 mouse mutants, we found a striking overlap of deregulated genes. Among t

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Chen, Si, Linrun Du, Yihui Lei, Yuanyuan Lin, Shangqin Chen, and Yanli Liu. "Two Novel HSD17B4 Heterozygous Mutations in Association With D-Bifunctional Protein Deficiency: A Case Report and Literature Review." Frontiers in Pediatrics 9 (July 23, 2021). http://dx.doi.org/10.3389/fped.2021.679597.

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Background: D-Bifunctional protein deficiency (D-BPD) is an autosomal recessive disorder caused by peroxisomal β-oxidation defects. According to the different activities of 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase protein units, D-bifunctional protein defects can be divided into four types. The typical symptoms include hypotonia and seizures. The gene that encodes D-BP was HSD17B4, which is located in chromosome 5q23.1.Case Presentation: We report the first case of D-BPD in a Chinese patient with neonatal onset. Cosmetic malformations, severe hypotonia and seizures are promine

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Weina, L., M. Rui, P. Yangqin, L. Gang, and L. Ge. "O-017 Exploring the longitudinal legacy/contribution of the male body mass index from semen to neonates in ART treatment: A real-world observational cohort study in China." Human Reproduction 40, Supplement_1 (2025). https://doi.org/10.1093/humrep/deaf097.017.

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Abstract Study question Overweight and obesity in men can affect reproductive health. This aim was to investigate effects of male BMI on assisted reproductive outcomes and neonatal outcomes. Summary answer The paternal BMI does not affect assisted reproductive outcomes or neonatal outcomes. What is known already Some scholars have proposed the “Paternal Origins of Health and Disease” (POHaD) theory. The epigenome of developing sperm cells is influenced by paternal exposures, such as male BMI, subsequently affects male fertility and offspring health. In China, the prevalence of overweight is es

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Jiang, Hanxiao, Yuxue Feng, Guiqiong He, Yuanjie Liu та Xiaofeng Li. "Analysis of the expression and distribution of protein O-linked mannose β1,2-N-acetylglucosaminyltransferase 1 in the normal adult mouse brain". Frontiers in Neuroanatomy 16 (6 січня 2023). http://dx.doi.org/10.3389/fnana.2022.1043924.

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IntroductionProtein O-linked mannose β1,2-N-acetylglucosaminyltransferase 1 (POMGNT1) is crucial for the elongation of O-mannosyl glycans. Mutations in POMGNT1 cause muscle-eye-brain (MEB) disease, one of the main features of which is anatomical aberrations in the brain. A growing number of studies have shown that defects in POMGNT1 affect neuronal migration and distribution, disrupt basement membranes, and misalign Cajal-Retzius cells. Several studies have examined the distribution and expression of POMGNT1 in the fetal or neonatal brain for neurodevelopmental studies in the mouse or human br

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Peter, M., K. Bunger, SL Drop, and WG Sippell. "Molecular genetic study in two patients with congenital hypoaldosteronism (types I and II) in relation to previously published hormonal studies." European Journal of Endocrinology, July 1, 1998, 96–100. http://dx.doi.org/10.1530/eje.0.1390096.

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We performed a molecular genetic study in two patients with congenital hypoaldosteronism. An original study of these patients was published in this Journal in 1982. Both index cases, a girl (patient 1) and a boy (patient 2). presented with salt-wasting and failure to thrive in the neonatal period. Parents of patient 1 were not related, whereas the parents of patient 2 were cousins. Endocrine studies had shown a defect in 18-oxidation of 18-OH-corticosterone in patient 1 and a defect in the 18-hydroxylation of corticosterone in patient 2. Plasma aldosterone was decreased in both patients, where

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de Vijlder, JJ. "Primary congenital hypothyroidism: defects in iodine pathways." European Journal of Endocrinology, October 1, 2003, 247–56. http://dx.doi.org/10.1530/eje.0.1490247.

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The thyroid gland is the only source of thyroid hormone production. Thyroid hormone is essential for growth and development, and is of special importance for the development of the central nervous system. It was for that reason that neonatal screening on congenital hypothyroidism was introduced and is now performed in many countries. Defects in thyroid hormone production are caused by several disorders in hormone synthesis and in the development of the thyroid gland (primary hypothyroidism) or of the pituitary gland and hypothalamus (central hypothyroidism).This paper describes defects in the

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Root, Emily, Kaitlyn Nunnelly, Clare Batty, et al. "Case Report: Trisomy 22 with 80% Mosaicism." North American Proceedings in Gynecology & Obstetrics, June 11, 2025. https://doi.org/10.54053/001c.140821.

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Background Trisomy 22 is a rare aneuploidy with only a handful of case reports published in the literature. There is a paucity of cases that report neonatal outcomes and even fewer reports of ultrasound findings. The case reports that describe ultrasound findings are few and most are limited to cases of fetal demise or termination. In this case report and review of the literature we describe our ultrasound, physical exam and autopsy findings of a live born 47,XY +22 infant. Case Presentation A 41-year-old Gravida 3 Para 2002 presented for a routine anatomy scan at 20 weeks. Several anomalies w

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Papa, B., D. Jodzio, S. Hinton, and K. Garrett. "Diagnosis and conservative management of a unilateral ureteral defect in a neonatal Thoroughbred filly." Equine Veterinary Education, April 28, 2025. https://doi.org/10.1111/eve.14165.

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SummaryAn 8‐day‐old Thoroughbred filly presented for suspected uroperitoneum. Physical examination, transabdominal ultrasound, biochemistry profile and abdominocentesis were consistent with a diagnosis of uroperitoneum. Exploratory laparotomy revealed a ruptured urachus, but the uroperitoneum recurred at 28 h post‐operatively. Computed tomography excretory urography was performed and confirmed the suspected diagnosis of a ruptured ureter. The filly was managed conservatively with urine removal via an abdominal drain. The abdominal drain was clamped after 2 days with no recurrence of uroperiton

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Metherell, LA, MO Savage, M. Dattani, et al. "TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency." European Journal of Endocrinology, October 1, 2004, 463–65. http://dx.doi.org/10.1530/eje.0.1510463.

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OBJECTIVE: Congenital isolated ACTH deficiency (IAD) is a rare inherited disorder that is clinically and genetically heterogeneous. Patients are characterised by low or absent cortisol production secondary to low plasma ACTH despite normal secretion of other pituitary hormones and the absence of structural pituitary defects. Onset may occur in the neonatal period, but may first be observed in later childhood. Recently, mutations in the TPIT gene, a T-box factor selectively expressed in developing corticotroph cells, have been found in cases of early-onset IAD. DESIGN: Here we report the screen

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Salerno, M., T. Lettiero, A. Esposito-Del Puente, et al. "Effect of long-term l-thyroxine treatment on bone mineral density in young adults with congenital hypothyroidism." European Journal of Endocrinology, December 1, 2004, 689–94. http://dx.doi.org/10.1530/eje.0.1510689.

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OBJECTIVE: To evaluate whether long-term l-thyroxine therapy in young adults with congenital hypothyroidism may affect bone mineral density (BMD). DESIGN: Thirty-seven subjects with congenital hypothyroidism, detected by neonatal screening and longitudinally followed from the time of diagnosis and treatment (26+/-4 days) up to the age of 17.8+/-1.0 years, were studied. METHODS: Spinal (L2-L4) BMD, measured by dual-energy X-ray densitometry, and bone quality, measured as amplitude-dependent speed of sound (Ad-SoS) by quantitative ultrasound, were evaluated. RESULTS: Z-score mean values (+/-s.d.

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G, Dalgin, Tryba AK, Cohen AP, et al. "Developmental defects and impaired network excitability in a cerebral organoid model of KCNJ11 p.V59M-related neonatal diabetes." Yearbook of Paediatric Endocrinology, September 12, 2022. http://dx.doi.org/10.1530/ey.19.2.12.

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