Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0728731 (prematurity)
 7,134 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Gram-negative bacterial infections were documented in 6 neonatal New World camelids (5 Ilamas and 1 alpaca). The organisms isolated from blood before death or from multiple organs after death were Escherichia coli (n = 3), Actinobacillus sp (n = 1), and Klebsiella pneumoniae (n = 1). Only 2 crias survived, and 1 became blind secondary to retinal detachment and ocular inflammation, which developed after treatment for bacterial infection. Abnormal events during the perinatal period (prematurity, dystocia, cesarean section, weak at birth) were reported in all 6 crias. Signs of depression, convulsions, and/or coma were observed in all animals. Diarrhea and respiratory distress were also noticed in the 3 crias that died shortly after admission. Serum immunoglobulins were assessed, but without the benefit of a stall-side test specific for Ilama immunoglobulins. All crias were suspected to have poor transfer of maternal immunoglobulins. Hemograms and serum biochemical values prior to the initiation of treatment were obtained on 5 of the 6 crias. Total nucleated cells ranged from 1,400 to 23,100 cells/microliter. Four of the 5 crias has a left shift, and 2 crias had toxic neutrophils. Serum glucose concentrations, measured in 5 of 6 crias, ranged from 83 to 293 mg/dl. Serum creatinine values were high in 2 of 5 crias, 1 of which had acute tubular necrosis. Three crias with high serum electrolyte (sodium, chloride, or potassium) values subsequently died. Arterial blood gas values were assessed in 3 crias, 1 of which had respiratory alkalosis and mild hypoxemia.
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PMID:Gram-negative bacterial infection in neonatal New World camelids: six cases (1985-1991). 142 94

A premature, 6-year-old child lost his owing to the persistence of the foetal vascular system and to retina detachment with divergent strabismus, at the left eye. The absence of ocular inflammatory signs, of intravascular hypertension, as well as the echographic examination permit to establish the diagnosis. The role of prematurity in the persistence of the foetal vascular system is shown, as this congenital malformation has neither a genetic, nor a foetal inflammatory determination.
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PMID:[The persistence of the fetal vascular system and retinal detachment in a child born of a difficult labor]. 181 47

Retinal detachment occurring in late stages of retinopathy of prematurity may appear spontaneous when a short oxygen therapy in low birthweight infant has been failed to recognized. As it is initially a tractional detachment the understanding of underlying pathogenic mechanisms is still important to choose adequate treatment which will determine the success of the surgery. Six patients with R.D. were recognised as having late complication of R.P. on the aspect of pathological posterior retinal vasculature and typical history of prematurity and oxygen therapy. All cases were treated successfully by different procedures varying with the severity of the disease. Use of vitrectomy can be advised in some cases but, is still a dangerous procedure, especially in this peculiar condition.
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PMID:[Retinal detachment caused by late-stage retinopathy of prematurity]. 381 31

More and more authors point out the existence of the retinal folds at the prematures with retrolental fibroplasia. This form is considered to be achieved. The survey has been done during 3 years on 27 children, divided in 2 groups: the former was the group of the prematures with retinal fold present in retrolental fibroplasia, and the later was the group of children with congenital retinal fold, but born at time. Clinically, the difference between the two types of folds is not so obvious, but from the morphoscopical aspect they differ. The therapy of the diagnosed children was the usual one done in complications: strabismus, cataract, retinal detachment. The conclusions is that, besides the malformative retinal fold of the child born at time, another similar lesion provoked by the prematurity and abusive oxygenation is possible.
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PMID:[The retinal fold in premature infants]. 776 80

Retinopathy of prematurity (ROP) is a major problem in both highly developed countries and countries with emerging technology. The incidence of ROP has been stable over the last 2 decades despite improvements in neonatology. Threshold ROP occurs in about 5% of premature infants in the US with birthweights <1.25kg. Despite treatment, a sizable minority will become blind (up to 20 to 30%). The pathophysiology of ROP can be separated into 2 phases. Phase I is hyperoxia-vasocessation. Phase II is hypoxia-vasoproliferation. The former occurs immediately following premature birth. The provision of supplemental oxygen causes retinal hyperoxia, a down regulation of vascular endothelial growth factor (VEGF) and a consequent cessation of normal retinal vascularisation. Systemic factors and increasing retinal metabolic demands cause a shift to phase II when a relative retinal hypoxia develops. This hypoxia stimulates VEGF production, leading to renewed vascularisation. This can be the resumption of normal vascularisation or abnormal neovascularisation, depending on local retinal responses. The management of ROP begins with a reliable evidence-based screening protocol. All interested parties must cooperate in developing and implementing foolproof screening protocols. Hospital officials, nursery personnel, neonatologists and ophthalmologists all have areas of responsibility in ensuring adequate screening. ROP management involves prevention, interdiction and correction. Prevention includes: adequate prenatal care which minimises premature birth, and appropriate systemic intensive care which lessens the tissue hyperoxia/hypoxia swings. Pharmacological vitamin E supplementation has largely been abandoned and ambient light reduction has been shown to be ineffective. The value of inositol supplementation and angiogenesis inhibitors in preventing ROP is presently under investigation. Interdiction concentrates on ablation of the peripheral avascular retina, thus dramatically decreasing VEGF production. Both cryotherapy and laser photocoagulation are effective; however, unfortunately, poor outcomes persist despite treatment. Supplemental oxygen administration has so far proven ineffective in limiting ROP progression. Finally, correction focuses on vitrectomy/retinal detachment repair. While anatomically successful, this procedure is often unsuccessful in terms of restoration of vision (<5% success rate). In conclusion, despite improvements in neonatology, ROP, potentially leading to blindness, continues to be a common problem associated with prematurity. Future management success must concentrate on discovering new modes of treatment, especially prevention.
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PMID:The management of retinopathy of prematurity. 1135 98

In this report, we describe a brother and sister who presented at birth with short-limb skeletal dysplasia, polyhydramnios, prematurity, and generalized edema. Dysmorphic features included broad nose, thick ears, thin lips, micrognathia, inverted nipples, ulnar deviation at the wrists, spatulate fingers, fifth finger camptodactyly, nail hypoplasia, and talipes equinovarus. Other features included short stature, microcephaly, psychomotor retardation, B-cell lymphopenic hypogammaglobulinemia, sensorineural deafness, retinal detachment and blindness, intestinal malrotation with poor gastrointestinal motility, persistent hyponatremia, intermittent hypoglycemia, and thrombocytopenia. Cardiac anomalies included PDA, VSD, hypertrophic cardiomyopathy, and arrhythmias. The brother had a small penis with hypospadias, hypoplastic scrotum, and non-palpable testes. Skeletal findings included absent ossification of cervical vertebral bodies, pubic bones, knee epiphyses, and tali. Both sibs died before age 2 years, one of overwhelming sepsis and the other of cardiorespiratory failure associated with her cardiomyopathy. Metabolic studies showed a type 1 pattern of abnormal serum transferrin glycosylation. Fibroblasts synthesized truncated LLOs, primarily Man(7)GlcNAc(2), suggestive of CDG-Ig. Both sibs were compound heterozygotes for a novel 301 G > A (G101R) mutation and a previously described 437 G > A (R146Q) mutation in ALG12. Congenital disorders of glycosylation should be considered for children with undiagnosed multi-system disease including neurodevelopmental delay, skeletal dysplasia, immune deficiency, male genital hypoplasia, and cardiomyopathy.
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PMID:Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. 1750 7

Retinopathy of prematurity (ROP) is a complex disease of the developing retinal vasculature in premature infants. Clinical manifestations range from mild, usually transient changes of the peripheral retina to severe progressive vasoproliferation, and potentally blinding retinal detachment. With better standards in premature units and with increased survival rate of low gestational age and low birth weight infants the incidence of ROP also increased. The incidence of ROP has been decreasing in developed countries over the past decade, and ROP has become potentially confined to immature neonates with birth weights less than 1000 grams in these countries. Prematurity and retinal immaturity are the major risk factors. Oxygenation, respiratory distress, apnea, bradycardia, hearth disease, infection, hypercarbia, acidosis, anemia, and the need for transfusion are thought by some to be contributory factors. All of the preterm babies with a birth weight under 1500 grams and a gestational age under 32 weeks should be followed for ROP.
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PMID:[Retinopathy of prematurity]. 1940 50

Retinopathy of prematurity (ROP) is a vascular vitreoretinopathy that affects infants with short gestational age and low birth-weight. The condition is a multifactorial disease and is clinically similar to familial exudative vitreoretinopathy (FEVR), which is a bilateral hereditary eye disorder affecting full-term infants. Both of them are characterized by the abnormal vessel growth in the vitreous that can lead to vitreoretinal traction, retinal detachment and other complications resulting in blindness. Despite the recent advances in diagnosis and treatment, ROP remains a major cause of childhood blindness in developed countries. The etiology of pathogenesis of advanced ROP is currently unknown. In the past, many causative factors such as length of time exposed to supplemental oxygen, excessive ambient light exposure and hypoxia have been suggested but evidence for these as independent risk factors in recent years is not compelling. It is not clear why ROP in a subset of infants with low birth-weight progresses to a severe stage (retinal detachment) despite timely intervention whereas in other infants with similar clinical characteristics ROP regresses spontaneously. Recent research with candidate gene approach, higher concordance rate in monozygotic twins and other clinical and experimental animal studies, suggest a strong genetic predisposition to ROP besides environmental factors such as prematurity. Three genes, which are involved in the Wnt signaling pathway, are mutated in both FEVR and in a small percentage of ROP disorder. However, none of the genetic factors identified thus far in ROP, account for a substantial number of patient population. Future studies involving genomics, bioinformatics and proteomics may provide a better understanding of the pathophysiology and management of ROP.
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PMID:Genetic susceptibility to advanced retinopathy of prematurity (ROP). 2073 58

Congenital abnormalities of the optic disc are not uncommon in clinical practice and should be recognized. Size abnormalities of the optic disc include optic disc aplasia, hypoplasia, megalopapilla, and optic disc cupping in prematurity. Among congenital excavations of the optic disc head, morning glory disc anomaly and optic disc pit can be complicated by serous retinal detachment; the papillorenal disc is an association of bilateral optic disc cupping and renal hypoplasia which should be ruled out; optic disc coloboma is caused by an abnormal closure of the embryonic fissure and can be complicated by choroidal neovascularization and retinal detachment. Other abnormalities that will be discussed are congenital tilted disc syndrome, duplicity of the optic disc head, congenital pigmentation of the optic disc head and myelinated retinal nerve fibers. All of these abnormalities can be associated with syndromes and neurological diseases, as well as other potentially blinding ophthalmological defects which can be secondarily complicated by amblyopia, strabismus and nystagmus. Thus, they should be recognized in order to plan for appropriate follow-up.
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PMID:[Congenital abnormalities of the optic disc]. 3093 96