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1.
Genet Med ; 25(3): 100338, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36729053

RESUMEN

This review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society, the international scientific organization studying chromosome 22q11.2 differences and related conditions, recruited expert clinicians worldwide to revise the original 2011 pediatric clinical practice guidelines in a stepwise process: (1) a systematic literature search (1992-2021), (2) study selection and data extraction by clinical experts from 9 different countries, covering 24 subspecialties, and (3) creation of a draft consensus document based on the literature and expert opinion, which was further shaped by survey results from family support organizations regarding perceived needs. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text reviews, including 1545 meeting criteria for potential relevance to clinical care of children and adolescents. Informed by the available literature, recommendations were formulated. Given evidence base limitations, multidisciplinary recommendations represent consensus statements of good practice for this evolving field. These recommendations provide contemporary guidance for evaluation, surveillance, and management of the many 22q11.2DS-associated physical, cognitive, behavioral, and psychiatric morbidities while addressing important genetic counseling and psychosocial issues.


Asunto(s)
Síndrome de DiGeorge , Adolescente , Humanos , Niño , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/terapia , Asesoramiento Genético , Encuestas y Cuestionarios
2.
Int J Mol Sci ; 24(20)2023 Oct 12.
Artículo en Inglés | MEDLINE | ID: mdl-37894785

RESUMEN

Retinal hemorrhages in pediatric patients can be a diagnostic challenge for ophthalmologists. These hemorrhages can occur due to various underlying etiologies, including abusive head trauma, accidental trauma, and medical conditions. Accurate identification of the etiology is crucial for appropriate management and legal considerations. In recent years, deep learning techniques have shown promise in assisting healthcare professionals in making more accurate and timely diagnosis of a variety of disorders. We explore the potential of deep learning approaches for differentiating etiologies of pediatric retinal hemorrhages. Our study, which spanned multiple centers, analyzed 898 images, resulting in a final dataset of 597 retinal hemorrhage fundus photos categorized into medical (49.9%) and trauma (50.1%) etiologies. Deep learning models, specifically those based on ResNet and transformer architectures, were applied; FastViT-SA12, a hybrid transformer model, achieved the highest accuracy (90.55%) and area under the receiver operating characteristic curve (AUC) of 90.55%, while ResNet18 secured the highest sensitivity value (96.77%) on an independent test dataset. The study highlighted areas for optimization in artificial intelligence (AI) models specifically for pediatric retinal hemorrhages. While AI proves valuable in diagnosing these hemorrhages, the expertise of medical professionals remains irreplaceable. Collaborative efforts between AI specialists and pediatric ophthalmologists are crucial to fully harness AI's potential in diagnosing etiologies of pediatric retinal hemorrhages.


Asunto(s)
Aprendizaje Profundo , Hemorragia Retiniana , Humanos , Niño , Hemorragia Retiniana/diagnóstico , Hemorragia Retiniana/etiología , Inteligencia Artificial , Curva ROC , Fondo de Ojo
3.
Pediatr Emerg Care ; 38(8): e1428-e1432, 2022 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-35696303

RESUMEN

OBJECTIVE: Subconjunctival hemorrhage (SCH) is a reported sign of occult abusive injury, but there are limited published data about SCH during childhood. We sought to determine the prevalence and causes of SCH in children. METHODS: This is a retrospective cross-sectional study of children seen by pediatric ophthalmologists in an outpatient setting over 4 years. Primary outcomes were prevalence and causes of SCH, based on history, physical ocular and nonocular findings, and laboratory and imaging studies. Subconjunctival hemorrhage prevalence was determined including and excluding eye surgery to reduce bias in the prevalence estimate. RESULTS: We studied 33,990 children, who underwent 86,277 examinations (median age, 5 years; range, 2 days to 18 years; 9282 younger than 2 years, 13,447 age 2-7 years, 11,261 age 8-18 years). There were 949 cases of SCH (1.1%; 95% confidence interval, 1.0-1.2). When surgery was excluded, there were 313 cases (prevalence, 0.4%; 95% confidence interval, 0.3-0.4), of which 261 (83%) were due to trauma; 40 (13%) ocular surface inflammation, including infectious conjunctivitis; 7 (2%) orbital or conjunctival lesion; 3 (1%) vessel rupture from choking or cough; and 2 (1%) coagulopathy related. Across all ages, including less than 2 years, trauma and inflammation together accounted for 94% to 97% of all cases of SCH. CONCLUSIONS: Subconjunctival hemorrhage is uncommon in children. The great majority of cases are due to trauma. All children with SCH, including infants and young children, should be closely examined to identify other ocular or nonocular signs of trauma.


Asunto(s)
Enfermedades de la Conjuntiva , Hemorragia del Ojo , Adolescente , Niño , Preescolar , Enfermedades de la Conjuntiva/complicaciones , Enfermedades de la Conjuntiva/etiología , Estudios Transversales , Hemorragia del Ojo/diagnóstico , Hemorragia del Ojo/epidemiología , Hemorragia del Ojo/etiología , Humanos , Lactante , Inflamación/complicaciones , Prevalencia , Estudios Retrospectivos
4.
Am J Med Genet A ; 176(10): 2058-2069, 2018 10.
Artículo en Inglés | MEDLINE | ID: mdl-30380191

RESUMEN

22q11.2 deletion syndrome (22q11.2DS) is a disorder caused by recurrent, chromosome-specific, low copy repeat (LCR)-mediated copy-number losses of chromosome 22q11. The Children's Hospital of Philadelphia has been involved in the clinical care of individuals with what is now known as 22q11.2DS since our initial report of the association with DiGeorge syndrome in 1982. We reviewed the medical records on our continuously growing longitudinal cohort of 1,421 patients with molecularly confirmed 22q11.2DS from 1992 to 2018. Most individuals are Caucasian and older than 8 years. The mean age at diagnosis was 3.9 years. The majority of patients (85%) had typical LCR22A-LCR22D deletions, and only 7% of these typical deletions were inherited from a parent harboring the deletion constitutionally. However, 6% of individuals harbored other nested deletions that would not be identified by traditional 22q11.2 FISH, thus requiring an orthogonal technology to diagnose. Major medical problems included immune dysfunction or allergies (77%), palatal abnormalities (67%), congenital heart disease (64%), gastrointestinal difficulties (65%), endocrine dysfunction (>50%), scoliosis (50%), renal anomalies (16%), and airway abnormalities. Median full-scale intelligence quotient was 76, with no significant difference between individuals with and without congenital heart disease or hypocalcemia. Characteristic dysmorphic facial features were present in most individuals, but dermatoglyphic patterns of our cohort are similar to normal controls. This is the largest longitudinal study of patients with 22q11.2DS, helping to further describe the condition and aid in diagnosis and management. Further surveillance will likely elucidate additional clinically relevant findings as they age.


Asunto(s)
Síndrome de DiGeorge/etiología , Adolescente , Adulto , Niño , Preescolar , Deleción Cromosómica , Cromosomas Humanos Par 22 , Comorbilidad , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/epidemiología , Femenino , Enfermedades Gastrointestinales/etiología , Cardiopatías Congénitas/etiología , Humanos , Estudios Longitudinales , Masculino , Mortalidad , Philadelphia/epidemiología , Transición a la Atención de Adultos
5.
Ophthalmology ; 122(12): 2457-64, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26341461

RESUMEN

PURPOSE: The effectiveness of annual eye examinations in diabetic children is unclear. We sought to determine the prevalence and onset of ocular pathology in children with diabetes mellitus (DM), identify risk factors for ocular disease, and recommend a screening regimen for asymptomatic children. DESIGN: Retrospective, consecutive cohort study. PARTICIPANTS: Children aged less than 18 years with type 1 or 2 DM examined over a 4-year period. METHODS: All children underwent a complete eye examination, including dilated fundoscopy and cycloplegic refraction. A literature review was performed, identifying the youngest reported age and shortest reported duration of DM before the diagnosis of diabetic retinopathy (DR). MAIN OUTCOME MEASURES: Prevalence of DR, cataract, high refractive error, and strabismus. RESULTS: A total of 370 children (mean age, 11.2 years; range, 1-17.5 years) had 693 examinations, with a mean DM duration of 5.2 years (range, 0.1-16.2 years) and a mean hemoglobin A1c (HbA1c) of 8.6 (range, 5-≥14). No children had DR. A total of 12 children had cataract; 5 required extraction but were identified by decreased vision, not diabetic screening. A total of 19 children had strabismus; only 1 was microvascular paralytic strabismus. A total of 41 children had high refractive error. There were no associations between these conditions and duration or control of DM. In the literature, the youngest age at diagnosis of severe DR was 15 years, and the shortest duration of disease was 5 years. CONCLUSIONS: Diabetic retinopathy is rare in children regardless of duration and control of DM. On the basis of our study and literature review, screening examinations for type 1 diabetes could begin at age 15 years or at 5 years after the diagnosis of DM, whichever occurs later, unless the child is judged by the endocrinologist as being at unusually high risk. Other ocular complications are identifiable through existing amblyopia screening methods.


Asunto(s)
Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 2/complicaciones , Retinopatía Diabética/etiología , Errores de Refracción/etiología , Estrabismo/etiología , Adolescente , Glucemia/metabolismo , Niño , Preescolar , Retinopatía Diabética/diagnóstico , Femenino , Hemoglobina Glucada/metabolismo , Humanos , Lactante , Masculino , Refracción Ocular/fisiología , Errores de Refracción/diagnóstico , Estudios Retrospectivos , Factores de Riesgo , Estrabismo/diagnóstico , Selección Visual , Agudeza Visual/fisiología
6.
Childs Nerv Syst ; 31(4): 589-96, 2015 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25399319

RESUMEN

BACKGROUND: While there is a clear correlation between unilateral coronal synostosis (UCS) and ocular motility abnormalities, the literature provides little information as to the true epidemiology of strabismus, or the underlying etiology of these paralleled pathologies. The purpose of this study is to investigate the rate of oculomotor abnormalities associated with UCS and its management. METHODS: A retrospective review of all patients identified to have single-suture, nonsyndromic UCS treated by fronto-orbital advancement at a tertiary craniofacial referral center from 1977 to 2013 was performed. Inclusion criteria mandated complete medical, surgical, and ophthalmological records. Patients were evaluated for strabismus both preoperatively and postoperatively, and as to whether eye muscle surgery was performed. RESULTS: A total of 181 patients underwent treatment for UCS at our institution during the study period, of which 79 met the inclusion criteria. Twenty-nine patients had strabismus prior to any craniofacial surgical intervention. Following fronto-orbital advancement, 23 patients (46 %) developed a new onset strabismus. Fifty-five patients had no change in their preoperative ocular examination, and one patient had resolution of preoperative strabismus. Of the 51 patients who had postoperative strabismus, 30 went on to have eye muscle surgery. There were no statistically significant differences in gender (p=0.477), race (p=0.395), sidedness of suture involvement (p=0.552), or age at intervention (p=0.66) in comparing the group with new postoperative strabismus and those without. CONCLUSIONS: This study sheds new light on the prevalence of strabismus in UCS, and more importantly, the risk of developing strabismus in the setting of conventional fronto-orbital advancement. This data will allow more accurate preoperative counseling and reinforces the important role of ophthalmologists as members of the multidisciplinary craniofacial team.


Asunto(s)
Craneosinostosis/complicaciones , Estrabismo/epidemiología , Estrabismo/etiología , Preescolar , Estudios de Cohortes , Craneosinostosis/cirugía , Femenino , Humanos , Lactante , Masculino , Prevalencia , PubMed/estadística & datos numéricos , Estrabismo/cirugía
7.
Pediatr Radiol ; 44 Suppl 4: S571-7, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25501729

RESUMEN

This review presents an up-to-date overview of ocular injuries resulting from child abuse, with a spotlight on abusive head trauma. Retinal hemorrhage is a principle finding of inflicted head trauma. The specific pattern of hemorrhages holds valuable diagnostic information, which can help to guide multidisciplinary assessments of the likelihood of abuse. Indirect ophthalmoscopy through dilated pupils by an ophthalmologist is necessary for adequate examination and documentation of retinal findings. Initial pediatrician evaluation of the eye and indications for ophthalmological consultation are reviewed. Focus is then placed upon understanding retinal hemorrhage patterns, their diagnostic significance and likely pathophysiological mechanisms. The differential diagnosis of retinal hemorrhage in young children is discussed, highlighting key distinctions among retinal hemorrhage patterns, severity and frequencies, as well as other ocular findings. The most common cause of retinal hemorrhage in an infant is trauma, and most other causes can be identified by considering the hemorrhage pattern, ocular or systemic signs and the results of laboratory and imaging tests, when indicated.


Asunto(s)
Maltrato a los Niños/diagnóstico , Traumatismos Craneocerebrales/diagnóstico , Retina/lesiones , Hemorragia Retiniana/diagnóstico , Niño , Maltrato a los Niños/prevención & control , Preescolar , Traumatismos Craneocerebrales/prevención & control , Diagnóstico Diferencial , Femenino , Medicina Legal/métodos , Humanos , Lactante , Recién Nacido , Masculino , Oftalmoscopía/métodos , Retina/patología , Hemorragia Retiniana/prevención & control
8.
J AAPOS ; 26(2): 74.e1-74.e5, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-35304320

RESUMEN

BACKGROUND: Neurosurgical procedures may occur prior to eye examination in children with suspected abusive head trauma and raise questions by child abuse physicians and ophthalmologists regarding the contribution of neurosurgery to retinal hemorrhage found postoperatively. The purpose of this study was to determine the prevalence and patterns of retinal hemorrhage attributable to neurosurgical intervention in children. METHODS: We conducted a retrospective cohort study of children undergoing neurosurgery who had postoperative ophthalmoscopy. Some children were also examined preoperatively. Primary outcome measures were the prevalence and patterns of retinal hemorrhage attributable to neurosurgical intervention. Medical records were reviewed to identify confounding coexistent diseases. RESULTS: Among 267 children undergoing 289 neurosurgical procedures, there were no cases in which children had post-procedural retinal hemorrhage that could be attributed to neurosurgery. Retinal hemorrhage was seen in 32 (12%) cases, but in every case they were either already present on preoperative examination (13 cases) or matched the pattern of a coexistent known cause of retinal hemorrhage, including head trauma with unambiguous history and/or nonocular signs (13), hydrocephalus-related increased intracranial pressure with papilledema-associated peripapillary retinal hemorrhage (5), and retinopathy of prematurity ridge-associated retinal hemorrhage (1). No retinal hemorrhage could be attributed only to neurosurgery. CONCLUSIONS: Although children undergoing child abuse evaluations may have intracranial hemorrhage requiring neurosurgery that occurs before a dilated retinal examination can be performed, our data suggest that neurosurgery independently is unlikely to produce retinal hemorrhage and therefore is not a significant confounding factor in the interpretation of retinal hemorrhage patterns in child abuse evaluations.


Asunto(s)
Maltrato a los Niños , Traumatismos Craneocerebrales , Niño , Maltrato a los Niños/diagnóstico , Traumatismos Craneocerebrales/complicaciones , Traumatismos Craneocerebrales/diagnóstico , Humanos , Lactante , Recién Nacido , Procedimientos Neuroquirúrgicos/efectos adversos , Hemorragia Retiniana/diagnóstico , Hemorragia Retiniana/epidemiología , Hemorragia Retiniana/etiología , Estudios Retrospectivos
9.
J AAPOS ; 25(6): 324.e1-324.e4, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34728383

RESUMEN

BACKGROUND: Hypoxia and cardiopulmonary resuscitation (CPR) have been proposed as causes of retinal hemorrhage (RH) in children evaluated for abusive head trauma (AHT). We sought to determine the prevalence and characteristics of RH in children who underwent CPR after cardiac arrest. METHODS: This was a prospective, single-center, consecutive observational study of 38 children (<18 years of age). Indirect ophthalmoscopic examination was completed by an ophthalmologist within 48 hours of CPR. Extensive medical records data were collected to assess for potential confounding factors. Outcomes included the presence and pattern of RH. RESULTS: Of the 38 children, 20 had in-hospital arrest; 18 had out-of-hospital arrest. The median duration of CPR was 10 minutes. Seven children had RH, of whom 6 had an RH pattern consistent with coexistent medical conditions: 4 AHT diagnosable with nonocular findings, including subdural and subarachnoid hemorrhage, rib fractures, abdominal injury (RH pattern: diffuse, numerous, intraretinal and/or multilayered RH); 1 septic shock (RH pattern: 1-2 posterior pole RH); 1 ruptured arteriovenous malformation (RH pattern: 4-8 peripapillary RH). The seventh child had unwitnessed cardiac arrest due to nonfatal drowning and a single superficial intraretinal peripapillary hemorrhage. CONCLUSIONS: CPR for cardiac arrest is rarely associated with RH, which, absent coexisting conditions causing retinal hemorrhage, are intraretinal, few in number, and located in the posterior pole. In children who have undergone CPR, when RH are multilayered, or are more than a few in number, or extend outside the posterior pole, another etiology for the RH should be sought.


Asunto(s)
Reanimación Cardiopulmonar , Traumatismos Craneocerebrales , Paro Cardíaco , Hemorragia Retiniana , Reanimación Cardiopulmonar/efectos adversos , Niño , Maltrato a los Niños , Traumatismos Craneocerebrales/complicaciones , Traumatismos Craneocerebrales/diagnóstico , Paro Cardíaco/complicaciones , Humanos , Estudios Prospectivos , Hemorragia Retiniana/diagnóstico , Hemorragia Retiniana/etiología
10.
J Pediatr ; 156(2): 320-1, 2010 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-20105641

RESUMEN

A recent shortage of erythromycin ointment has resulted in the use of alternative agents for newborn ocular infection prophylaxis in the United States. We report a series of 26 newborns in whom a characteristic periocular ulcerative dermatitis developed after gentamicin ointment administration at 2 Philadelphia hospitals.


Asunto(s)
Antibacterianos/efectos adversos , Profilaxis Antibiótica/efectos adversos , Enfermedades de los Párpados/inducido químicamente , Dermatosis Facial/inducido químicamente , Gentamicinas/efectos adversos , Administración Tópica , Erupciones por Medicamentos/etiología , Femenino , Humanos , Recién Nacido , Masculino , Pomadas , Philadelphia
11.
Curr Opin Ophthalmol ; 21(5): 367-74, 2010 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-20634697

RESUMEN

PURPOSE OF REVIEW: Congenital abnormalities of the cranium and face present complex diagnostic and therapeutic challenges to the ophthalmologist. RECENT FINDINGS: Patients with craniofacial anomalies are best treated by a multidisciplinary team that includes specialists from plastic surgery, neurosurgery, ophthalmology, otolaryngology, oromaxillofacial surgery, orthodontics, anesthesia, and genetics as well as specialists in support disciplines such as nursing, social work, and nutrition. Other subspecialty needs may be important to address behavioral and developmental issues as well as associated systemic anomalies and medical conditions. The specialists must work together to provide for the overall well being of the patient. To assist in the evaluation and treatment of these patients, the ophthalmologist must possess an understanding of craniofacial syndromes as well as the necessary medical and surgical interventions required to improve ocular and adnexal problems. SUMMARY: This article systematically reviews the major craniofacial anomalies of ophthalmic importance and highlights salient treatment issues.


Asunto(s)
Anomalías Craneofaciales/complicaciones , Oftalmopatías/etiología , Adolescente , Niño , Preescolar , Anomalías Craneofaciales/diagnóstico , Anomalías Craneofaciales/terapia , Oftalmopatías/diagnóstico , Oftalmopatías/terapia , Humanos , Lactante , Grupo de Atención al Paciente
12.
J Pediatr Ophthalmol Strabismus ; 47(4): 228-30, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-19873951

RESUMEN

PURPOSE: This study investigated the use of fibrin glue and compared its effect with traditional sutures for conjunctival closure in strabismus surgery. METHODS: The study included 12 patients undergoing horizontal strabismus surgery, of whom 5 underwent bilateral medial rectus muscle recessions and 7 underwent bilateral lateral rectus muscle recessions. For each patient, fibrin glue was used to close the conjunctiva of one eye and 6-0 plain sutures were used to close the other. RESULTS: All eyes maintained adequate closure of the conjunctiva postoperatively and there were no intraoperative or postoperative complications for an eye. However, the average surgical time needed to apply fibrin glue was considerable less than that required for closure with sutures. Furthermore, eyes closed with fibrin glue were associated with significantly less postoperative inflammation and patient discomfort than those closed with sutures. All patients and parents reported significantly less discomfort from the eyes treated with fibrin glue. CONCLUSION: These results are promising and demonstrated a safe and effective alternative to traditional suture closure in strabismus surgery. When compared to traditional suture closure, conjunctival closure with glue includes the following advantages: less postoperative patient discomfort, diminished postoperative inflammation, and potentially reduced surgical time with corresponding reduced time under general anesthesia.


Asunto(s)
Conjuntiva/efectos de los fármacos , Adhesivo de Tejido de Fibrina/uso terapéutico , Músculos Oculomotores/cirugía , Procedimientos Quirúrgicos Oftalmológicos , Estrabismo/cirugía , Técnicas de Sutura , Adhesivos Tisulares/uso terapéutico , Adolescente , Niño , Preescolar , Humanos , Lactante , Factores de Tiempo
13.
J Pediatr Ophthalmol Strabismus ; 46(1): 19-22; quiz 23-4, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19213272

RESUMEN

PURPOSE: To determine whether there has been a change in treatment practice patterns of patients with amblyopia between the late 1990s and 2004. METHODS: A questionnaire survey was mailed to 1,200 AAPOS members listed in the 2004 AAPOS directory. Seven scenarios were presented that described patients with amblyopia and the clinician was asked to choose from six treatment options. Respondents were asked to indicate their preferred initial treatment in 1998 (or during their initial year of practice if later than 1998) and in 2004. The scenarios were not necessarily those of patients who would meet the eligibility criteria for the Amblyopia Treatment Studies because they also included scenarios to assess the impact of amblyopia treatments in general. RESULTS: Three hundred eighty-nine surveys (33.1%) were returned. In four of the seven scenarios, comments suggested that a change in practice was attributable to recent publications of Pediatric Eye Disease Investigator Group trials. In all seven scenarios, atropine would have been offered in 2004 as an alternative to patching in 1998, and in five of the seven scenarios the combination of simultaneous atropine and patching would have been prescribed. In six of the seven scenarios, some type of nonspecific near work would now be prescribed as an adjunct treatment. CONCLUSION: A change in practice patterns was observed for some, but not all, scenarios. In many scenarios, this change was directly attributed to the recent Pediatric Eye Disease Investigator Group trials.


Asunto(s)
Ambliopía/terapia , Oftalmología/tendencias , Pautas de la Práctica en Medicina/tendencias , Atropina/administración & dosificación , Niño , Preescolar , Ensayos Clínicos como Asunto , Investigación sobre Servicios de Salud , Encuestas Epidemiológicas , Humanos , Midriáticos/administración & dosificación , Privación Sensorial , Encuestas y Cuestionarios , Estados Unidos
14.
Mol Genet Metab ; 95(4): 206-12, 2008 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-18976948

RESUMEN

UNLABELLED: Newborn screening for galactosemia has shown a high prevalence of partial galactose uridyl transferase deficiencies such as Duarte (DG) galactosemia. STUDY OBJECTIVE: To determine whether (a) there is any clinical impact of DG galactosemia on development (b) there is a relationship between outcome and biochemical parameters in patients who receive no treatment. STUDY POPULATION: Twenty-eight children with DG galactosemia. Group-I-17 children had a lactose restricted diet in the first year of life. Group-II-11 children had a regular diet since birth. METHODS: Developmental, physical, and ophthalmologic assessments were completed on both DG groups. RBC gal-1-p and urine galactitol were monitored during the follow-up visits in every child with DG galactosemia. Gal-1-p, urine galactitol, liver function tests, and FSH were tested at the time of study visit. RESULTS: The groups had statistically significant differences on RBC gal-1-p and urine galactitol at the 2 week, 1 month, 6 month, and 1 year time points. There was no statistical difference of gal-1-p or urine galactitol in group-I and -II at the time of study. The groups had statistically significant differences on adaptive scores, but not on language or IQ. None of the DG subjects had abnormal liver function at the time of diagnosis or the study visit. The FSH levels were normal. There were no statistically significant relationships between the first year metabolic values and developmental outcomes. CONCLUSIONS: The data presented here indicate that clinical and developmental outcomes in DG galactosemics are good regardless of any diet changes.


Asunto(s)
Desarrollo Infantil , Galactosemias/fisiopatología , Niño , Preescolar , Femenino , Galactitol/orina , Galactosa/sangre , Galactosemias/diagnóstico , Galactosemias/dietoterapia , Galactosemias/genética , Humanos , Lactante , Recién Nacido , Estudios Longitudinales , Masculino , Tamizaje Neonatal , Proyectos Piloto
15.
Am J Med Genet A ; 146A(7): 904-9, 2008 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-18324686

RESUMEN

Reported ocular findings in the 22q11.2 deletion syndrome (which encompasses the phenotypes of DiGeorge, velocardiofacial, and Takao (conotruncal-anomaly-face) syndromes) have included posterior embryotoxon (prominent, anteriorly displaced Schwalbe's line at the corneal limbus or edge), retinal vascular tortuosity, eyelid hooding, strabismus, and astigmatism. We present seven 22q11.2 patients from multiple centers with sclerocornea, an eye finding previously unreported in the literature. Four boys and three girls were identified with sclerocornea, systemic DGS/VCFS findings, and fluorescence in situ hybridization (FISH)-confirmed microdeletion at chromosome 22q11.2. FISH diagnosis was perinatal in six patients but at 2 years of age in one child. Sclerocornea was bilateral in five patients. Findings included descemetocele (five eyes), microophthalmos (one eye), iridocorneal adhesions (one bilateral case), and severe anterior segment dysgenesis (one eye). Two patients underwent bilateral corneal transplantation; another two were scheduled for possible unilateral transplant. Sclerocornea is a static congenital condition in which the cornea is opaque and vascularized and resembles the sclera. The novel finding of sclerocornea suggests that a genetic locus at 22q11.2 may be involved in anterior segment embryogenesis. In most of our patients, the diagnostic process was underway, but in one patient 22q11.2 deletion was not suspected until after the child had already been undergoing treatment for sclerocornea for 2 years. Sclerocornea should be added to the clinical manifestations of the 22q11.2 deletion syndrome. Ophthalmologists diagnosing sclerocornea in children with systemic findings suggestive of 22q11.2 deletion should ensure appropriate genetic referral.


Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 22 , Enfermedades de la Córnea/genética , Femenino , Humanos , Hibridación Fluorescente in Situ , Masculino , Síndrome
16.
J AAPOS ; 11(2): 175-8, 2007 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-17306998

RESUMEN

PURPOSE: To present a detailed series of patients with unilateral retinal hemorrhages in shaken baby syndrome. METHODS: Patients with a diagnosis of Shaken Baby Syndrome evaluated by the Ophthalmology Department at Penn State University between January 1999 and January 2004 were reviewed. Patients were identified and their medical records, photographs, and computed tomographic scans were reviewed. Additional records were obtained from the Children's Hospital of Philadelphia. RESULTS: Of the 12 patients evaluated at Penn State University, the age at presentation ranged from 6 weeks to 15 months, with an average age of 4.3 months. Six (50%) had bilateral intracranial hemorrhage, while 6 (50%) had unilateral intracranial hemorrhage. The six patients with unilateral intracranial hemorrhage all had ipsilateral retinal hemorrhages. The perpetrators were male (100%) and 11 (92%) were the babies' fathers. For the five patients evaluated at Children's Hospital of Philadelphia, the age at presentation ranged from 4 weeks to 1 year, with an average of 4.35 months. Three (60%) had bilateral intracranial hemorrhage and two (40%) had unilateral intracranial hemorrhage. The perpetrators were male in four (80%) cases and three (60%) were the babies' fathers. CONCLUSIONS: These patients demonstrate the varied presentations of shaken baby syndrome. Unilateral retinal hemorrhages do not rule out the diagnosis of shaken baby syndrome.


Asunto(s)
Hemorragia Retiniana/etiología , Síndrome del Bebé Sacudido/complicaciones , Maltrato a los Niños , Padre , Femenino , Humanos , Lactante , Hemorragias Intracraneales/etiología , Masculino , Hemorragia Retiniana/diagnóstico , Síndrome del Bebé Sacudido/diagnóstico
17.
J AAPOS ; 11(2): 179-82, 2007 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-17140829

RESUMEN

PURPOSE: To identify the ocular features of the chromosome 22q11.2 deletion syndrome and to provide ophthalmologic examination recommendations for affected patients. METHODS: Ocular abnormalities were evaluated prospectively in patients with 22q11.2 deletion at the Children's Hospital of Philadelphia between 1997 and 1999. RESULTS: Ninety patients with confirmed 22q11.2 deletion were examined. Posterior embryotoxon was found in 49%, tortuous retinal vessels in 34%, eyelid hooding in 20%, strabismus in 18%, ptosis in 4%, amblyopia in 4%, and tilted optic nerves in 1%. CONCLUSIONS: The high incidence of ocular conditions that can potentially affect visual development suggest that children with 22q11.2 deletion should undergo a comprehensive eye examination upon diagnosis of the condition with follow-up as indicated by the findings in each case. In addition, knowledge of the ocular findings, in conjunction with certain cardiac, otolaryngologic, immunologic, and other systemic findings, may alert physicians to the possibility of a chromosome 22q11.2 deletion.


Asunto(s)
Anomalías Múltiples/genética , Deleción Cromosómica , Cromosomas Humanos Par 22/genética , Síndrome de DiGeorge/genética , Anomalías del Ojo/genética , Anomalías Múltiples/diagnóstico , Adolescente , Adulto , Niño , Preescolar , Anomalías del Ojo/diagnóstico , Femenino , Humanos , Hibridación Fluorescente in Situ , Lactante , Recién Nacido , Masculino , Estudios Prospectivos
18.
J AAPOS ; 21(1): 23-27, 2017 02.
Artículo en Inglés | MEDLINE | ID: mdl-28087346

RESUMEN

BACKGROUND: Cerebral sinovenous thrombosis (CSVT) has been proposed as an alternative cause of retinal hemorrhage (RH) in children being evaluated for abusive head trauma. This study investigated the prevalence and characteristics of RH in children with CSVT. METHODS: The medical records of children >6 weeks of age with newly diagnosed CSVT and fundus examination by an ophthalmologist were examined retrospectively. Primary outcomes were presence and patterns of RH. RESULTS: A total of 29 children (median age, 9 years; range, 7 weeks to 17 years) were studied. Of these, 5 (17%) had RH, in 4 of whom RH were peripapillary, superficial, intraretinal, and adjacent to a swollen optic disk. In the fifth child, who had meningitis, sepsis, and multiple cerebral infarcts, there were a moderate number of posterior pole intraretinal hemorrhages. Eighteen children (62%) had optic disk swelling. In 13 children, cerebrospinal fluid opening pressure was recorded (range, 27-59 cm H2O). CSVT risk factors included meningitis, mastoiditis, and hypercoagulability. CONCLUSIONS: RH in pediatric CSVT was uncommon. When RHs were present, the appearance matched RH patterns known to be caused by medical conditions, such as raised intracranial pressure and sepsis, also present in these children. These findings suggest that the RHs are due to these other causes and not directly to CSVT itself. In children with CSVT, if RHs are multilayered, extend beyond the peripapillary region into the rest of the posterior pole or retinal periphery, or occur in the absence of optic disk swelling, another etiology for the RH should be sought.


Asunto(s)
Hemorragia Retiniana/etiología , Trombosis de los Senos Intracraneales/complicaciones , Adolescente , Presión del Líquido Cefalorraquídeo , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Lactante , Presión Intracraneal , Imagen por Resonancia Magnética , Masculino , Papiledema/diagnóstico , Papiledema/etiología , Prevalencia , Hemorragia Retiniana/diagnóstico , Estudios Retrospectivos , Factores de Riesgo , Trombosis de los Senos Intracraneales/diagnóstico por imagen , Tomografía Computarizada por Rayos X
19.
J Pediatr Ophthalmol Strabismus ; 43(3): 143-51; quiz 165-6, 2006.
Artículo en Inglés | MEDLINE | ID: mdl-16761634

RESUMEN

The treatment of pediatric cataracts is rapidly evolving, and the visual prognosis for infants and children with cataracts is improving, due in part to earlier surgery, increased frequency of intraocular lens (IOL) implantation, more effective amblyopia therapy following surgery, and better forms of optical correction. A surgeon treating a child with a cataract is faced with An assortment of therapeutic dilemmas such as whether an IOL should be implanted, whether foldable lenses are appropriate, and whether the posterior capsule should be opened during surgery. Although the surgery can be technically difficult in small and unforgiving eyes, it is often the easy part as treatment decisions and results have lifelong implications. The visual system, which is immature at birth, has a latent period of approximately 6 weeks before it becomes sensitive to deprivation, and binocular vision first appears at approximately 3 months of age. It is therefore imperative that infants with visually significant congenital cataracts receive prompt treatment during the sensitive periods to decrease the risk of developing amblyopia or binocular abnormalities. An ideal time for early surgical intervention resulting in few complications and maximal visual outcome has not been identified with certainty. Perhaps the greatest overall change in the approach to the surgical treatment of pediatric cataracts has been the adaptation of techniques used in adult cataract surgery. This article focuses on the methods currently used in the management of pediatric cataracts.


Asunto(s)
Extracción de Catarata/tendencias , Catarata , Niño , Humanos , Implantación de Lentes Intraoculares/tendencias , Pronóstico , Agudeza Visual
20.
J AAPOS ; 20(2): 131-5, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-27079593

RESUMEN

BACKGROUND: Ophthalmologists are commonly asked to interpret appearance of retinal hemorrhages (RH) in children with suspected traumatic head injury. We sought to determine the natural history of RH in young children with head trauma and to identify patterns suggestive of chronicity in order to help establish timing of suspected traumatic injury. METHODS: The medical records of children <2 years of age with abusive or accidental head trauma and RH on initial fundus examination who had 1 or more follow-up examination were retrospectively reviewed. Types of RH (intraretinal, preretinal) were noted; intraretinal hemorrhage (IRH) severity was graded as mild (0-10), moderate (10-20), or severe (>20, too numerous to count [TNTC]). RESULTS: A total of 91 eyes of 52 children were studied. All eyes had IRH (62 eyes with TNTC). In all but one eye, IRH resolved to none or mild within 1-2 weeks. TNTC IRH did not persist beyond a few days. The longest an isolated IRH persisted was 32 days. Preretinal hemorrhage (PRH) was present in 68 eyes, persisting 5-111 days. On initial examination, 25% of eyes had only IRH, 75% both PRH and IRH; no eyes had only PRH. At 2 weeks, 3% had only IRH, 18% both, and 45% only PRH. In no eyes did RH worsen. CONCLUSIONS: IRH clears rapidly, whereas PRH may persist for many weeks. The presence of TNTC IRHs indicates that trauma occurred within a few days prior to examination, whereas the presence of PRH with no or few IRHs suggests days to weeks since trauma. To accurately identify these patterns, eye examinations should be completed as soon as possible after admission, preferably within 24-48 hours.


Asunto(s)
Accidentes , Maltrato a los Niños/diagnóstico , Traumatismos Craneocerebrales/diagnóstico , Hemorragia Retiniana/diagnóstico , Traumatismos Craneocerebrales/clasificación , Diagnóstico Diferencial , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Hemorragia Retiniana/clasificación , Estudios Retrospectivos
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