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1.
Plants (Basel) ; 12(4)2023 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-36840191

RESUMO

The molecular and phenotypic effects of a brown seaweed extract (BSE) were assessed in sugar beet (Beta vulgaris L.). Transcript levels of BSE-treated and untreated plants were studied by RNA-seq and validated by quantitative real-time PCR analysis (RT-qPCR). Root morphology, sugar yield, and processing quality traits were also analyzed to better elucidate the treatment effects. RNA-seq revealed 1019 differentially expressed genes (DEGs) between the BSE-treated and untreated plants. An adjusted p-value < 0.1 and an absolute value of log2 (fold change) greater than one was used as criteria to select the DEGs. Gene ontology (GO) identified hormone pathways as an enriched biological process. Six DEGs involved in auxin and ABA pathways were validated using RT-qPCR. The phenotypic characterization indicated that BSE treatment led to a significant increase (p < 0.05) in total root length and the length of fine roots of plants grown under hydroponics conditions. The sugar yield of plants grown under field conditions was higher (p < 0.05) in the treated field plots compared with the control treatment, without impacting the processing quality. Our study unveiled the relevant effects of BSE application in regulating auxin- and ABA-related gene expression and critical traits related to sugar beet development and yield.

2.
Ophthalmic Surg Lasers Imaging Retina ; 53(7): 398-402, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35858232

RESUMO

Malignant infantile osteopetrosis is a rare inherited disorder with neurological complications and a shortened life expectancy. Vision loss is typically attributed to osseous compression of the optic nerves at the level of the optic canal. Fundus imaging is reported, as well as the first optical coherence tomography and optical coherence tomography angiography in this rare condition. Imaging revealed optic nerve pallor, subfoveal ellipsoid zone disruption, and an enlarged foveal avascular zone. These results provide insight regarding other potential mechanisms of vision loss in these patients. [Ophthalmic Surg Lasers Imaging Retina 2022; 53:398-402.].


Assuntos
Osteopetrose , Tomografia de Coerência Óptica , Angiofluoresceinografia/métodos , Fóvea Central/patologia , Fundo de Olho , Humanos , Osteopetrose/diagnóstico , Osteopetrose/patologia , Tomografia de Coerência Óptica/métodos , Transtornos da Visão/patologia
3.
Sci Rep ; 12(1): 10719, 2022 06 23.
Artigo em Inglês | MEDLINE | ID: mdl-35739218

RESUMO

The fungus Cercospora beticola causes Cercospora Leaf Spot (CLS) of sugar beet (Beta vulgaris L.). Despite the global importance of this disease, durable resistance to CLS has still not been obtained. Therefore, the breeding of tolerant hybrids is a major goal for the sugar beet sector. Although recent studies have suggested that the leaf microbiome composition can offer useful predictors to assist plant breeders, this is an untapped resource in sugar beet breeding efforts. Using Ion GeneStudio S5 technology to sequence amplicons from seven 16S rRNA hypervariable regions, the most recurring endophytes discriminating CLS-symptomatic and symptomless sea beets (Beta vulgaris L.ssp. maritima) were identified. This allowed the design of taxon-specific primer pairs to quantify the abundance of the most representative endophytic species in large naturally occurring populations of sea beet and subsequently in sugar beet breeding genotypes under either CLS symptomless or infection stages using qPCR. Among the screened bacterial genera, Methylobacterium and Mucilaginibacter were found to be significantly (p < 0.05) more abundant in symptomatic sea beets with respect to symptomless. In cultivated sugar beet material under CLS infection, the comparison between resistant and susceptible genotypes confirmed that the susceptible genotypes hosted higher contents of the above-mentioned bacterial genera. These results suggest that the abundance of these species can be correlated with increased sensitivity to CLS disease. This evidence can further prompt novel protocols to assist plant breeding of sugar beet in the pursuit of improved pathogen resistance.


Assuntos
Ascomicetos , Beta vulgaris , Ascomicetos/genética , Beta vulgaris/genética , Cercospora , Endófitos/genética , Melhoramento Vegetal , Doenças das Plantas/genética , Doenças das Plantas/microbiologia , RNA Ribossômico 16S/genética , Açúcares
5.
Front Plant Sci ; 12: 693285, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34322145

RESUMO

The identification of efficient molecular markers related to low bolting tendency is a priority in sugar beet (Beta vulgaris L.) breeding. This study aimed to identify SNP markers associated with low bolting tendency by establishing a genome-wide association study. An elaborate 3-year field trial comprising 13 sugar beet lines identified L14 as the one exhibiting the lowest bolting tendency along with an increased survival rate after autumnal sowing. For SNP discovery following phenotyping, contrasting phenotypes of 24 non-bolting and 15 bolting plants of the L14 line were sequenced by restriction site-associated DNA sequencing (RAD-seq). An association model was established with a set of 10,924 RAD-based single nucleotide polymorphism (SNP) markers. The allelic status of the most significantly associated SNPs ranked based on their differential allelic status between contrasting phenotypes (p < 0.01) was confirmed on three different validation datasets comprising diverse sugar beet lines and varieties adopting a range of SNP detection technologies. This study has led to the identification of SNP_36780842 and SNP_48607347 linked to low bolting tendency and can be used for marker-assisted breeding and selection in sugar beet.

6.
Front Plant Sci ; 12: 646025, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33815453

RESUMO

The present study aimed to explore the effects of foliar application of a leonardite-based product on sugar beet (Beta vulgaris L.) plants grown in the field. The approach concerned the evaluation of the community compositional structure of plant endophytic bacteria through a metabarcoding approach, the expression level of a gene panel related to hormonal metabolism and signaling, and the main sugar beet productivity traits. Results indicated that plants treated with leonardite (dosage of 2,000 ml ha-1, dilution 1:125, 4 mg C l-1) compared with untreated ones had a significant increase (p < 0.05) in (i) the abundance of Oxalicibacterium spp., recognized to be an endophyte bacterial genus with plant growth-promoting activity; (ii) the expression level of LAX2 gene, coding for auxin transport proteins; and (iii) sugar yield. This study represents a step forward to advance our understanding of the changes induced by leonardite-based biostimulant in sugar beet.

7.
Biology (Basel) ; 11(1)2021 Dec 29.
Artigo em Inglês | MEDLINE | ID: mdl-35053047

RESUMO

Rhizoctonia solani, causing Rhizoctonia crown and root rot, is a major risk to sugar beet (Beta vulgaris L.) cultivation. The development of resistant varieties accelerated by marker-assisted selection is a priority of breeding programs. We report the identification of a single-nucleotide polymorphism (SNP) marker linked to Rhizoctonia resistance using restriction site-associated DNA (RAD) sequencing of two geographically discrete sets of plant materials with different degrees of resistance/susceptibility to enable a wider selection of superior genotypes. The variant calling pipeline utilized SAMtools for variant calling and the resulting raw SNPs from RAD sequencing (15,988 and 22,439 SNPs) were able to explain 13.40% and 25.45% of the phenotypic variation in the two sets of material from different sources of origin, respectively. An association analysis was carried out independently on both the datasets and mutually occurring significant SNPs were filtered depending on their contribution to the phenotype using principal component analysis (PCA) biplots. To provide a ready-to-use marker for the breeding community, a systematic molecular validation of significant SNPs distributed across the genome was undertaken to combine high-resolution melting, Sanger sequencing, and rhAmp SNP genotyping. We report that RsBv1 located on Chromosome 6 (9,000,093 bp) is significantly associated with Rhizoctonia resistance (p < 0.01) and able to explain 10% of the phenotypic disease variance. The related SNP assay is thus ready for marker-assisted selection in sugar beet breeding for Rhizoctonia resistance.

8.
J Med Case Rep ; 14(1): 89, 2020 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-32622368

RESUMO

BACKGROUND: Immunoglobulin G4-related disease is a recently recognized condition with pathologic features that are consistent across a wide range of organ systems. Orbital manifestations of this disease entity typically involve the lacrimal gland and lacrimal duct, extraocular muscles, orbital soft tissue, and sclera. Here, the authors report the first known case of inflammatory choroidal neovascular membrane associated with immunoglobulin G4-related disease and offer suggestions for clinical management of this enigmatic condition. CASE PRESENTATION: A 38-year-old Caucasian man with a history of recurrent tonsillitis presented with blurry vision in his left eye of 1-week duration and was diagnosed as having inflammatory choroidal neovascular membrane. An infectious workup was negative, but his serum immunoglobulin G4 level was elevated at 248 mg/dL (reference 4-86), and a subsequent tonsillectomy for a repeat episode of tonsillitis revealed increased immunoglobulin G4 staining on histopathology, thus confirming the diagnosis of immunoglobulin G4-related disease. The inflammatory choroidal neovascular membrane was treated with intravitreal bevacizumab injections and orally administered prednisone resulting in improved visual acuity and choroidal neovascular membrane regression. He later received rituximab infusions for immunoglobulin G4-related disease. CONCLUSIONS: We report a case of choroidal neovascularization associated with immunoglobulin G4-related disease, a chronic inflammatory condition whose ophthalmic manifestations typically include dacryoadenitis, orbital myositis, or scleritis. This is the first reported instance of inflammatory choroidal neovascular membrane associated with immunoglobulin G4-related disease. Early detection of this disease is important to avoid organ damage and potential complications, so clinicians should maintain an index of suspicion for this condition when inflammatory choroidal neovascular membrane is observed.


Assuntos
Neovascularização de Coroide/diagnóstico , Neovascularização de Coroide/etiologia , Doença Relacionada a Imunoglobulina G4/complicações , Adulto , Inibidores da Angiogênese/administração & dosagem , Bevacizumab/administração & dosagem , Neovascularização de Coroide/tratamento farmacológico , Humanos , Injeções Intravítreas , Masculino , Acuidade Visual
10.
J Pediatr Surg ; 55(10): 2128-2133, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32061369

RESUMO

Hemorrhage is the main cause of preventable death in both military and civilian trauma, and many of these patients die from non-compressible torso injuries. Resuscitative endovascular balloon occlusion of the aorta (REBOA) is a minimally invasive method used for hemodynamic control of the hemorrhaging patient and has been compared to resuscitative thoracotomy (RT) with cross clamping of the aorta. REBOA has received a great deal of attention in recent years for its applicability and promise in adult trauma and non-trauma settings, but its utility in children is mostly unknown. The purpose of this review article is to summarize and consolidate what is currently known about the use of REBOA in children. Some of the challenges in implementing REBOA in children include small vascular anatomy and lack of outcomes data. Although the evidence is limited, there are established instances in the literature of children and adolescents who have undergone endovascular occlusion of the aorta for hemorrhage control with positive outcomes and survival rates equivalent to their adult counterparts. There is a need for further formal evaluation of REBOA in pediatric patients with prospective studies to look at the safety, feasibility and efficacy of the technique. STUDY TYPE: Narrative Literature Review LEVEL OF EVIDENCE: IV.


Assuntos
Aorta/cirurgia , Oclusão com Balão , Hemorragia/cirurgia , Ressuscitação , Criança , Medicina Baseada em Evidências , Humanos
11.
J Pediatr Hematol Oncol ; 42(8): e765-e767, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-31568176

RESUMO

Sulfhemoglobinemia (SulfHb) is a rare dyshemoglobinemia that can present with cyanosis in the absence of respiratory distress. It has been reported secondary to drug ingestion and chronic constipation. We present a case of SulfHb in an adolescent female with spina bifida and neurogenic bladder in the setting of an Escherichia coli urinary tract infection. An arterial blood gas differentiated a dyshemoglobinemia from other causes of hypoxemia. The resolution was achieved with antibiotics and red cell transfusion. Here we review the pathophysiology of SulfHb and contribute a unique case report to the limited body of literature on this topic.


Assuntos
Infecções por Escherichia coli/complicações , Escherichia coli/isolamento & purificação , Disrafismo Espinal/complicações , Sulfemoglobinemia/etiologia , Bexiga Urinaria Neurogênica/complicações , Infecções Urinárias/complicações , Antibacterianos/uso terapêutico , Criança , Infecções por Escherichia coli/microbiologia , Infecções por Escherichia coli/patologia , Feminino , Humanos , Prognóstico , Disrafismo Espinal/microbiologia , Disrafismo Espinal/patologia , Sulfemoglobinemia/tratamento farmacológico , Sulfemoglobinemia/patologia , Bexiga Urinaria Neurogênica/microbiologia , Bexiga Urinaria Neurogênica/patologia , Infecções Urinárias/microbiologia , Infecções Urinárias/patologia
12.
Am J Surg ; 220(1): 208-213, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-31703836

RESUMO

PURPOSE: Management of children with adhesive small bowel obstruction (ASBO) is often based on abdominal radiographs (AXR). Our purpose was to determine the significance of paucity of gas on initial AXR. METHODS: Retrospective, single center review of children with ASBO between 2011 and 2015. Analysis included chi-square, non-parametric tests and multivariate regression. RESULTS: Of 207 cases, 99 were operative. Initial AXR showed paucity of gas in 41% and gaseous loops in 59%. Paucity was more common in operative patients (49% vs. 32%, p = 0.01). At operation, 71% of patients with paucity had closed loop or high-grade obstruction, compared to 29% of patients with gaseous loops (p = <0.001). CONCLUSION: For children with ASBO with paucity of gas on AXR, complicated obstruction (closed loop or high-grade) should be considered. In children with high clinical suspicion of complicated obstruction, additional imaging with CT or SBFT may clarify the clinical picture.


Assuntos
Tratamento Conservador/métodos , Obstrução Intestinal/diagnóstico , Intestino Delgado/diagnóstico por imagem , Radiografia Abdominal/métodos , Aderências Teciduais/complicações , Adolescente , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Obstrução Intestinal/etiologia , Obstrução Intestinal/terapia , Masculino , Reprodutibilidade dos Testes , Estudos Retrospectivos , Fatores de Tempo
13.
Eye Contact Lens ; 46(6): 348-352, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31794543

RESUMO

OBJECTIVES: To document outcomes associated with use of scleral contact lenses (SL) in the veteran population and analyze the medical and demographic factors that affect these outcomes, specifically those involved in contact lens discontinuation. METHODS: A retrospective study of consecutive patients first fitted with Jupiter Scleral lenses at the Michael E. DeBakey Veterans Affairs Medical Center between 2010 and 2018. The primary outcome was continuation of SL use at 1 year. Demographic factors and variables such as presence of comorbid diseases, improvement in visual acuity, and daily lens wear time were compared. Logistic regression analysis was used to determine which factors were associated with SL discontinuation. RESULTS: One hundred twenty patients with a mean age of 56.7±15.1 years were fitted with SL during the study period. The most common diagnosis was corneal ectasia (55.8%). Sixty-six (55.0%) patients had difficulty with wear, the most common being ocular irritation (20.0%) and mid-day fogging or bubbles (15.8%). Forty-one patients (34.2%) discontinued SL use with a median time from fitting to discontinuation of 5.2 months. The most common reason for SL discontinuation was difficulty with insertion and removal (53.7%). Comorbid neurologic disease had a statistically significant association with discontinuation (odds ratio 4.6, 95% confidence interval 1.3-17, P=0.022). There were statistically significant differences in mean visual acuity improvement (P=0.003) and daily wear time (P<0.001) but not age (P=0.70) between patients who continued and discontinued lens use. CONCLUSIONS: Scleral contact lenses are effective for treating a wide variety of ocular diseases and have positive outcomes in veterans. This study aids in understanding patient factors that affect outcomes of SL use in veterans. Further prospective studies are needed to make formal recommendations regarding candidate selection.


Assuntos
Lentes de Contato , Doenças da Córnea , Veteranos , Adulto , Idoso , Humanos , Pessoa de Meia-Idade , Estudos Prospectivos , Ajuste de Prótese , Estudos Retrospectivos , Esclera , Resultado do Tratamento
14.
High Throughput ; 8(4)2019 Oct 11.
Artigo em Inglês | MEDLINE | ID: mdl-31614507

RESUMO

Leonardite-based biostimulants are a large class of compounds, including humic acid substances. Foliar application of biostimulants at field level improves plant growth, yield and quality through metabolic changes and stimulation of plant proton pumps. The present study aimed at identifying optimum dosage of BLACKJAK, a humic acid-based substance, which is able to modify genes involved in sugar beet growth. Thirty-three genes belonging to various biochemical pathway categories were tested in leaves of treated sugar beet (Beta vulgaris L.) samples to assess gene expression profiling in response to BLACKJAK. Seedlings of a diploid and multigerm variety were grown in plastic pots and sprayed with two dilutions of BLACKJAK (dilution 1:500-1.0 mg C L-1 and dilution 1:1000-0.5 mg C L-1). Leaf samples were collected after 24, 48, and 72 h treatment with BLACKJAK for each dilution. RNA was extracted and the quantification of gene expression was performed while using an OpenArray platform. Results of analysis of variance demonstrated that, 15 genes out of a total of 33 genes tested with OpenArray qPCR were significantly affected by treatment and exposure time. Analysis for annotation of gene products and pathways revealed that genes belonging to the mitochondrial respiratory pathways, nitrogen and hormone metabolisms, and nutrient uptake were up-regulated in the BLACKJAK treated samples. Among the up-regulated genes, Bv_PHT2;1 and Bv_GLN1 expression exerted a 2-fold change in 1:1000 and 1:500 BLACKJAK concentrations. Overall, the gene expression data in the BLACKJAK treated leaves demonstrated the induction of plant growth-related genes that were contributed almost to amino acid and nitrogen metabolism, plant defense system, and plant growth.

15.
J Surg Res ; 243: 384-390, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31277016

RESUMO

BACKGROUND: Adhesive small bowel obstruction (ASBO) in children is generally managed with initial observation. However, no clear guidelines exist regarding indications to operate. Our purpose was to compare outcomes of ASBO management to determine whether timing of surgery and patient age should affect management. MATERIALS AND METHODS: A retrospective review of children admitted to a tertiary care children's hospital for ASBO between 2011 and 2015 was performed. Data included demographics, imaging, operative findings, and clinical management, which were analyzed using χ2 test, Fischer's exact test, t-test, analysis of variance, or logistic regression when appropriate. RESULTS: We identified 258 admissions for 202 patients. Urgent operation was performed in 12% and the rest had nonoperative management (NOM), which was successful in 54%. Patients younger than 1 y of age were more likely to require operation (odds ratio 3.71, 95% confidence interval [CI] 1.69-8.15; P < 0.01), and patients with prior ASBO were less likely to require operation (odds ratio 0.51, 95% CI 0.31-0.84; P < 0.01). At presentation, fever was most common in patients who had urgent operation (22.3% versus failure of NOM 7.6% versus successful NOM 6.6%; P = 0.02), but there were no differences in leukocytosis or abdominal pain. Excluding urgent operations, bowel resection was more common when operation was delayed more than 48 h (32.6% versus 15.3%; P = 0.04). CONCLUSIONS: In children with adhesive small bowel obstruction, NOM can be successful, but when failure is suspected, early operation before 48 h should be considered to avoid bowel loss, especially in children younger than 1 y of age.


Assuntos
Obstrução Intestinal/cirurgia , Aderências Teciduais/complicações , Adolescente , Fatores Etários , Criança , Pré-Escolar , Feminino , Humanos , Obstrução Intestinal/etiologia , Masculino , Estudos Retrospectivos , Fatores de Tempo
16.
Neuroophthalmology ; 44(5): 319-326, 2019 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-33012922

RESUMO

Background: In the absence of confirmatory biopsy, the criteria for diagnosis of neuro-ophthalmic sarcoidosis are not well established. Diagnostic criteria for both intraocular sarcoidosis and neurosarcoidosis have been proposed, but the diagnosis of neuro-ophthalmic sarcoidosis remains challenging. It is our intention to augment what is currently known about the diagnosis of neuro-ophthalmic sarcoidosis by providing a series of biopsy-proven cases that contribute to the continued development of diagnostic criteria for this enigmatic condition. Methods: Case series of four Caucasian women with biopsy-proven neuro-ophthalmic sarcoidosis. Results: The first patient was initially diagnosed with traumatic optic neuropathy following a fall. Years later, the presence of pathologic submandibular lymphadenopathy was identified and biopsied, revealing non-caseating granulomas. The second and third cases involved sarcoidosis of the extraocular muscles without clear or common systemic features of sarcoidosis. In the fourth and final case, the patient presented with a Horner syndrome attributed to sarcoid infiltration of the ipsilateral sympathetic chain. Bronchoscopy with biopsy showed non-caseating granulomas consistent with sarcoidosis. Conclusions: We describe four cases of neuro-ophthalmic sarcoidosis and propose possible neuro-orbital and neuro-ophthalmic criteria both with and without diagnostic biopsy.

18.
Optom Vis Sci ; 95(12): 1114-1119, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30451809

RESUMO

SIGNIFICANCE: Efforts to describe the relationship between pathological visual impairment and fall risk are typically confined to community dwellers. Among admitted patients, however, the associations are less understood. Fall risk assessment tools are used in some clinical settings, but most do not capture the suspected importance of ophthalmic pathologies in predicting the likelihood of an inpatient fall. PURPOSE: The purpose of this study was to determine the association between ophthalmic conditions and inpatient falls at the Michael E. DeBakey Veterans Affairs Medical Center (MEDVAMC), where vision and ophthalmic conditions are not considered when assessing fall risk. METHODS: This is a population-based, retrospective case-control study of 805 patients admitted to the MEDVAMC in January 2014 who had also visited the MEDVAMC Eye Clinic within 1 year of admission. The patients' eye examinations, ophthalmic diagnoses, and other indicators of constitutive health were compared between 60 patients who experienced an inpatient fall ("cases") and 749 patients who did not ("controls"). Significant differences between the cases and the controls were determined using logistic regression models. RESULTS: Baseline demographics were similar among the two groups. Ophthalmic conditions associated with an increased incidence of inpatient falls included age-related macular degeneration (odds ratio, 3.9; 95% confidence interval, 1.5 to 9.9; P = .008) and a presenting visual acuity of worse than 20/40 in the better-seeing eye (odds ratio, 2.0; 95% confidence interval, 1.0 to 4.1; P = .04). Those without falls demonstrated a better mean presenting visual acuity in the better-seeing eye compared with those who fell (logMAR, 0.12 ± 0.23 vs. 0.28 ± 0.49, P < .001). CONCLUSIONS: In this population, age-related macular degeneration and poor presenting visual acuity in the better-seeing eye are associated with increased incidence of inpatient falls. An assessment of visual function and ophthalmic diagnoses may be warranted upon admission to the hospital for increased prevention of inpatient falls.


Assuntos
Acidentes por Quedas/estatística & dados numéricos , Pacientes Internados/estatística & dados numéricos , Degeneração Macular/epidemiologia , Veteranos/estatística & dados numéricos , Transtornos da Visão/epidemiologia , Pessoas com Deficiência Visual/estatística & dados numéricos , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Feminino , Hospitais de Veteranos/estatística & dados numéricos , Humanos , Incidência , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Estudos Retrospectivos , Medição de Risco , Estados Unidos/epidemiologia , Acuidade Visual/fisiologia
19.
Am J Ophthalmol Case Rep ; 11: 35-36, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30128364

RESUMO

PURPOSE: To report a case of sequential open globe rupture in a young patient with osteogenesis imperfecta type I following minor accidental blunt injury. This represented the patient's sole clinical manifestation of connective tissue disease, leading to a diagnosis of osteogenesis imperfecta type I at the age of 12 years old. OBSERVATIONS: A 12-year-old male presented with right eye pain following accidental blunt trauma at school while wearing protective lenses. One year ago, he required surgical repair of a left open globe following blunt trauma during a middle school basketball game. His exam was significant for a full-thickness corneal laceration, necessitating open globe repair of his right eye, which was remarkably difficult given the poor tissue constitution of the cornea and sclera. He was referred to a genetics specialist, where he was found to have a pathogenic heterozygous splice site variant in the COL1A1 gene, consistent with osteogenesis imperfecta type I. CONCLUSIONS AND IMPORTANCE: Connective tissue disease should be considered in any case of open globe rupture following minor trauma, even in the absence of other clinical manifestations of the disease. The surgical management of these patients is particularly challenging due to the fragility of the connective tissue. Early diagnosis of connective tissue disease is important to preserve visual acuity and prevent further damage to the eyes.

20.
J Pediatr Surg ; 53(11): 2235-2239, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29753525

RESUMO

BACKGROUND/PURPOSE: To compare the adequacy and safety of percutaneous core needle biopsy and surgical wedge biopsy of neuroblastoma in children. METHODS: A retrospective review of patients who underwent biopsy for intermediate- or high-risk neuroblastoma at our institution between 2011 and 2015 was performed (recent cohort). Procedure details and outcomes were collected and analyzed using descriptive statistics and Wilcoxon rank tests; P < 0.05 was considered significant. Published data from 2002 to 2010 were compared (historic cohort). RESULTS: Since 2011, percutaneous, ultrasound-guided, core needle biopsy has been more commonly utilized (47% (16/34) recent vs. 25% (7/28) historic; P = 0.07), and the number of core needle samples increased from median 7 (historic) to 25 (recent). Complications decreased (21% (7/34) recent vs. 64% (18/28) historic; P < 0.01). Biopsy adequacy in the recent cohort was similar (94% percutaneous vs. 89% surgical; P = 1.00), which is improved from the historic cohort (71% percutaneous vs. 100% surgical; P = 0.06). Larger tumors were more likely to have a percutaneous biopsy (82 ±â€¯37 cm percutaneous vs. 47 ±â€¯29 cm surgical; P = 0.04). CONCLUSIONS: When multiple cores are obtained, percutaneous core needle biopsy is adequate for complete tissue diagnosis of neuroblastoma and can be safely performed. This can be considered as an alternative to open surgical biopsy. TYPE OF STUDY: Treatment Study. LEVEL OF EVIDENCE: III.


Assuntos
Biópsia , Neuroblastoma , Biópsia/efeitos adversos , Biópsia/métodos , Biópsia/estatística & dados numéricos , Criança , Humanos , Neuroblastoma/diagnóstico , Neuroblastoma/patologia , Estudos Retrospectivos
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