3,276 results on '"Malformation"'
Search Results
52. An operative case of gastric cancer with ectopic bile duct drainage in the lesser curvature of the stomach
- Author
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Kazuaki Hashimoto, Tsukasa Ihara, Yuichiro Maruyama, Shinichi Tomisaki, and Hiroshi Harada
- Subjects
Double common bile duct ,Ectopic drainage ,Gastric cancer ,Malformation ,Surgery ,RD1-811 - Abstract
Abstract Background Among the various anomalies of the biliary system, a double common bile duct with ectopic drainage in the stomach is rare. Furthermore, ectopic bile ducts are extremely rare in gastric cancers. Case presentation A 67-year-old man was admitted to our hospital with gastric cancer and ectopic left extrahepatic bile duct drainage in the stomach. Pre-operative testing revealed no communication between the intrahepatic bile ducts. Distal gastrectomy and bile duct jejunostomy were performed. The post-operative course was uneventful, and the patient did not exhibit recurrence for 39 mo. Conclusions Although it is uncertain whether sustained bile exposure from an ectopic bile duct is related to gastric cancer, short-term follow-up might be necessary because of the possibility of gastric cancer. more...
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- 2024
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53. Retained foreign body misdiagnosed as a low flow vascular malformation: A case report
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Daniel Armstrong, BS, Robert Owens, MD, Terri Carlson, DO, and Brian Ching, DO
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Arteriovenous ,Foreign body ,Malformation ,Splinter ,Trauma ,Venous ,Medical physics. Medical radiology. Nuclear medicine ,R895-920 - Abstract
A 21-year-old woman presented with 1 year history of progressive dorsal right foot pain with no recollection of trauma. The physical exam did not reveal any unusual appearance to the plantar or dorsal skin surfaces. Specifically, no scars were seen. Foot radiographs were unremarkable. The presumed etiology after Doppler ultrasound (US) and MRI was a likely venous or venolymphatic malformation. She received 2 rounds of sclerotherapy 12 months apart with transient symptomatic clinical improvement. After the second sclerotherapy treatment, repeat MRI revealed dorsal extension of the lesion with skin involvement, prompting referral for surgical intervention. At surgery, a 3 cm wood splinter was found surrounded by granulation tissue. After showing the patient the resected splinter, she recalled stepping on a wooden broomstick that punctured the bottom of her foot in her childhood. She stated she also remembered pulling a splinter out of her foot. This case demonstrates the unusual and rare appearance of a chronic retained foreign body creating a cystic lesion in the foot presumed to be a low-flow vascular malformation on US and MRI. more...
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- 2024
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54. A Rare Presentation of Diastematomyelia Type-2 with Recurrent Neuropathic Ulcers in a Young Child from Pakistan—A Case Report
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Majeed, Imad, Khan, Sami Ullah, Ullah, Ihtisham, Ullah, Zeeshan, Aziz, Sundal, and Khan, Hameed Haider
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- 2024
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55. Intraoperative neuromonitoring in Chiari I malformation surgery: a systematic review and meta-analysis
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Da Cunha, Beatriz Lopes Bernardo, Pustilnik, Hugo Nunes, Heber Marques Fontes, Jefferson, Meira, Davi Amorim, Porto Junior, Silvio, da Paz, Matheus Gomes da Silva, Alcântara, Tancredo, and De Avellar, Leonardo Miranda more...
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- 2024
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56. An operative case of gastric cancer with ectopic bile duct drainage in the lesser curvature of the stomach
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Hashimoto, Kazuaki, Ihara, Tsukasa, Maruyama, Yuichiro, Tomisaki, Shinichi, and Harada, Hiroshi
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- 2024
- Full Text
- View/download PDF
57. Beak deformity in three bird species from the southwest of the Brazilian Amazon.
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Alencar, Luana, Santos, Ednaira, Verde, Rair, Oliveira, Elaine, and Guilherme, Edson
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BEAKS , *SCIENTIFIC literature , *BIRD populations , *HUMAN abnormalities , *MAXILLA , *CAPTIVE wild animals - Abstract
Beak deformity have a frequency of 0.5% in wild bird populations. In addition to being rare, beak deformities are also poorly reported in the Brazilian scientific literature. Here we report beak deformities in the species: Dendrocincla merula, Amazona ochrocephala and Pheugopedius genibarbis, all of which occurred in southwestern Brazilian Amazon. Dendrocolaptids make intensive use of their beaks in the search for insects and small vertebrates, where they explore in cracks in wood with lateral blows. In the case presented here, this behaviour may have been the cause of the breakage of the tip of this individual's maxilla. In Brazilian territory, few species of parrots were recorded with deformity in the beak and in the individual in this work, everything indicates that Amazona ochrocephala was a captive animal, as it was excessively thin and its diet probably had a low content of vitamins and calcium, where their deficiency even when the animal was a puppy may have contributed to the deformity of the maxilla. Cases of beak deformities in species of the Troglodytidae family are rare, but the individual in this work presented an unusual curvature in the maxilla not observed in other individuals in museum collections. Only with more reports will we be able to better understand the occurrence and causes of these beak deformities in wild birds. [ABSTRACT FROM AUTHOR] more...
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- 2024
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58. Absence of adverse effects of Blutaparon portulacoides (A.St.-Hil.) Mears in mice exposed during pregnancy.
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Neves, Silvia Cordeiro das, Noronha, Renata Coelho Rodrigues, Monreal, Antonio Carlos Duenhas, do Nascimento, Luís Adriano Santos, Cardoso, Adauto Lima, Flávia dos Santos Tavares, Tura, Bethânia Borges, Gomes, Roberto da Silva, Kassuya, Candida Aparecida Leite, Nunes, Viktor Krejci, Salvador, Marcos José, and Oliveira, Rodrigo Juliano more...
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MICE , *PREGNANCY , *TRADITIONAL medicine , *PREGNANT women , *ANTI-inflammatory agents , *PLACENTA - Abstract
Blutaparon portulacoides (A.St.-Hil.), also known as capotirguá, pirrixu, and bredo-de-praia, is a bactericidal and anti-inflammatory agent used in folk medicine to treat leukorrhea. The present study evaluated the effects of an ethanolic extract of B. portulacoides (EEBp) on the reproductive performance, embryo-fetal development, and chromosomal stability of mice of pregnant female mice treated during the gestational period with oral EEBp (500 or 1000 mg/kg) or vehicle (1% Tween 80). EEBp did not alter biometric parameters, placental index, placental efficiency, or other parameters related to reproductive performance, neither embryo-fetal development and DNA integrity, but 500 and 1000 mg/kg EEBp decreased fetal and placental weight, respectively. Although the frequency of external and skeletal malformations did not differ between these groups and the control group, EEBp increased the frequency of reduced ossification of the presphenoid and xiphoid, which can be considered variants of normality. These findings indicate that EEBp is a safe and cost-effective treatment for leukorrhea during pregnancy, although caution should be exercised in its use. [Display omitted] • Extract of B. portulacoides did not significantly interfere with the reproductive performance • Extract of B. portulacoides did not significantly interfere with the embryo-fetal development of female mice. • Ethanolic extract of B. portulacoides was not genotoxic. [ABSTRACT FROM AUTHOR] more...
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- 2024
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59. A male fetus with cyclopia was discovered after miscarriage: A rare case report from Syria.
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Dakkak, Tala, Mansour, Marah, Jarbouh, Habib, and Ktail, Abdolmoin
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MISCARRIAGE , *LOW-income countries , *FETUS , *EMOTIONAL trauma , *CRANIOFACIAL abnormalities , *RECURRENT miscarriage - Abstract
Key Clinical Message: This case of alobar holoprosencephaly and cyclopia emphasizes the value of prenatal check‐ups, particularly in low‐income countries. Early ultrasound diagnosis leads to early gestational termination, preventing psychological trauma for the parents. Alobar holoprosencephaly is a rare‐occurrence malformation with a bad prognosis linked to cyclopia, the most severe cranial feature. Prenatal examinations are essential for identifying these deformities and preventing parental mental health damage. [ABSTRACT FROM AUTHOR] more...
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- 2024
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60. Prevalence of craniosynostosis in Finland, 1987–2010: A population‐based study.
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Vuola, Pia, Pakkasjärvi, Niklas, Ritvanen, Annukka, Heliövaara, Arja, Tukiainen, Erkki, and Gissler, Mika
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Background: Craniosynostosis is a prevalent craniofacial malformation in Finland; however, comprehensive population‐based epidemiological data are limited. This study aimed to estimate the total and birth prevalence of craniosynostosis in Finland from 1987 to 2010 and examine temporal trends. Methods: We collected the data from nationwide registers maintained by the Finnish Institute for Health and Welfare and Statistics Finland, as well as treating hospitals, encompassing live births, stillbirths, terminations for fetal anomalies, and infant deaths with suspected or diagnosed craniosynostosis or skull deformation. A craniofacial surgeon and a clinical geneticist reviewed 1878 medical records for diagnostic confirmation. Results: Out of 877 craniosynostosis cases, 83% were single‐suture synostoses (all live births), 10% craniosynostosis syndromes, and 7% multisutural non‐syndromic synostoses. Live birth prevalence from 1987 to 2010 was 6.0/10,000 live births, ranging from 5.0/10,000 in 1987 to 7.5/10,000 in 2010. Total prevalence, including live births, stillbirths, and terminations, varied from 5.0/10,000 in 1987 to 8.0/10,000 in 2010. Sagittal synostosis was the most common synostosis, with a prevalence of 3.9/10,000 live births, followed by metopic (0.6/10,000), unicoronal (0.4/10,000), and unilambdoid (0.1/10,000) synostoses. Conclusions: The total combined prevalence of all craniosynostosis types significantly increased driven by a nonsignificant rise across all subgroups and a significant increase in the syndrome group. In live births increase was significant only within the syndrome subgroup, primarily due to an increase in Muenke syndrome patients. The rising prevalence of syndromes necessitates further investigation. Contrasting with trends in Europe, Australia, and the USA, Finland showed no significant increase in metopic craniosynostosis. [ABSTRACT FROM AUTHOR] more...
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- 2024
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61. Operative Therapie der kongenitalen Skoliosen.
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Ruf, Michael
- Abstract
Copyright of Operative Orthopädie und Traumatologie is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) more...
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- 2024
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62. First detection of fungal diversity associated with Prunus salicina Lindl malformation syndrome.
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Huang, Dan, Pu, Po, He, Xiaosi, Lan, Mingxian, Du, Bang, Zhu, Lixia, Li, Qian, Yang, Yongli, Xiang, Rui, Wang, Longzhang, Li, Guizhen, and Wang, Rongjiao
- Abstract
The Chinese deciduous fruit Prunus salicina Lindl is loved by people because of its distinctive flavor and significant industrial worth. This study presents the first report of abnormal leaf bud in Prunus salicina Lindl. Malformation of Prunus salicina Lindl leaf buds leads to abnormal development and growth, causing deformities and a decrease in fruit yield. Identifying the underlying causes and causative pathogens is essential for effective disease management. In this experiment, we observed the Malformation Syndrome in Prunus salicina Lindl and used the internal transcribed spacer (ITS) to compare fungal diversity between malformed and healthy leaf buds. These results show a higher level of fungal diversity in diseased leaf buds. Alternaria, Curvibasidium, Symmetrospora, Fonsecazyma, and other genera among the identified fungi are suspected to induce the malformations. Potential contributors to these malformations include Endophyte-plant_Pathogen and Plant_pathogen-Undefined_saprotroph. These findings provide valuable insights for further research on the etiology of plum bud diseases, identifying potential pathogens, and formulating control strategies. [ABSTRACT FROM AUTHOR] more...
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- 2024
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63. Reproductive and fetal toxicity studies of histamine H3 receptor antagonist DL76 used in mice to prevent maximal electroshock-induced seizure
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Salim M. Bastaki, Yousef M. Abdulrazzaq, Marwan Abdelrahim Zidan, Mohamed Shafiullah, Saif Ghdayer Alaryani, Fatima Awad Alnuaimi, Ernest Adeghate, Sahar Mohsin, Amal Akour, Agata Siwek, Dorota Łażewska, Katarzyna Kieć-Kononowicz, and Bassem Sadek more...
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histamine H3 receptors ,antagonist DL76 ,maximal electroshock ,seizures ,anticonvulsant ,malformation ,Therapeutics. Pharmacology ,RM1-950 - Abstract
Introduction: Brain histamine is considered an endogenous anticonvulsant and histamine H1 receptor. H1R antagonists have, in earlier studies, been found to induce convulsions. Moreover, research during the last two decades has provided more information concerning the anticonvulsant activities of histamine H3R (H3R) antagonists investigated in a variety of animal epilepsy models.Methods: Therefore, the in vivo anticonvulsant effect of the H3R antagonist DL76, with proven high in vitro affinity, in vitro selectivity profile, and high in vivo antagonist potency in mice against maximal electroshock (MES)-induced seizures in mice, was assessed. Valproic acid (VPA) was used as a reference antiepileptic drug (AED). In addition, DL76 was tested for its reproductive and fetal toxicity in the same animal species.Results and discussion: Our observations showed that acute systemic administration (intraperitoneal; i.p.) of DL76 (7.5 mg/kg, 15 mg/kg, 30 mg/kg, and 60 mg/kg, i.p.) provided significant and dose-dependent protection against MES-induced seizures in female and male mice. Moreover, the DL76-provided protective effects were comparable to those offered by the VPA and were reversed when animals were co-administered the CNS-penetrant selective H3R agonist R-(α)-methylhistamine (RAM, 10 mg/kg, i.p.). Furthermore, the administration of single (7.5 mg/kg, 15 mg/kg, 30 mg/kg, or 60 mg/kg, i.p.) or multiple doses (3 × 15 mg/kg, i.p.) of H3R antagonist DL76 on gestation days (GD) 8 or 13 failed to affect the maternal body weight of mice when compared with the control mice group. No significant alterations were detected in the average number of implantations and resorptions between the control and DL76-treated groups at the early stages of gestation and the organogenesis period. In addition, no significant differences in the occurrence of skeletal abnormalities, urogenital abnormalities, exencephaly, exomphalos, facial clefts, and caudal malformations were observed. The only significant abnormalities witnessed in the treated groups of mice were in the length of long bones and body length. In conclusion, the novel H3R antagonist DL76 protected test animals against MES-induced seizures and had a low incidence of reproductive and fetal malformation with decreased long bone lengths in vivo, signifying the potential therapeutic value of H3R antagonist DL76 for future preclinical as well as clinical development for use in the management of epilepsy. more...
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- 2024
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64. DNA barcoding of invasive black thrips Thrips parvispinus (Karnt) Thysanoptera: Terebrantia: Thripidae from Muthalamada, the mango city of Kerala, India
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Ibrahim, Syed Mohamed S., Nilamudeen, Malini, Pathrose, Berin, and Karthikeyan, K.
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- 2023
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65. Complete Thoracic Ectopia Cordis in Two Lambs
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Liz de Albuquerque Cerqueira, Isabel Luana de Mâcedo, Davi Emanuel Ribeiro de Sousa, Haiane Arruda Luz Amorim, José Renato Junqueira Borges, Fábio Henrique Bezerra Ximenes, Antonio Carlos Lopes Câmara, and Márcio Botelho de Castro more...
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cardiac anomaly ,cleft ,congenital defect ,malformation ,ovine ,sheep ,Veterinary medicine ,SF600-1100 ,Zoology ,QL1-991 - Abstract
Cardiac congenital defects related to inheritance and teratogenesis have been reported in veterinary species and humans worldwide. Among these, ectopia cordis (EC), characterized by an externalized heart through a cleft, is extremely rare in sheep. This report presents the diagnostic features of two cases of complete thoracic EC in newborn lambs. Clinical findings in the lambs, aside from the EC, were unremarkable. Both animals exhibited exteriorized hearts without pericardial coverage, delineated in the thoracic cleft by a fibrous ring of the pericardium and adjacent skin. Histologically, the epicardium was thickened by fibrous tissue in both lambs, with one animal also showing marked edema, hemorrhage, and neutrophilic inflammatory infiltration. The prognosis of EC in the lambs of this study was poor, with fatal outcomes despite attempts at surgical correction. more...
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- 2024
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66. Dandy–Walker Variant: A Continuum of Dandy–Walker Complex
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Muzumdar, Dattatraya, Rai, Sarvender, Turgut, Mehmet, editor, Guo, Fuyou, editor, Turgut, Ahmet Tuncay, editor, and Behari, Sanjay, editor
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- 2023
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67. Pediatric Vascular Malformations
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Kappel, Ari D., See, Alfred P., Smith, Edward R., Shimony, Nir, editor, and Jallo, George, editor
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- 2023
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68. Elements of Teratology
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Barzilay, Eran, Koren, Gideon, Abramowicz, Jacques S., editor, and Longman, Ryan E., editor
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- 2023
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69. The Genetic Programs Behind Cerebellar Development Cerebellar Development Development
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Millen, Kathleen J., Gruol, Donna L., editor, Koibuchi, Noriyuki, editor, Manto, Mario, editor, Molinari, Marco, editor, Schmahmann, Jeremy D., editor, and Shen, Ying, editor
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- 2023
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70. Neuropathological Changes in Humans with History of Prenatal Alcohol Exposure or Diagnosis of Fetal Alcohol Spectrum Disorder
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Del Bigio, Marc R., Eisenstat, David D., editor, Goldowitz, Dan, editor, Oberlander, Tim F., editor, and Yager, Jerome Y., editor
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- 2023
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71. Lymphatic Malformations
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Goss, Jeremy A., Zamakhshary, Mohammed, Langer, Jacob C., Christison-Lagay, Emily, Puri, Prem, editor, and Höllwarth, Michael E., editor
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- 2023
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72. Magnetic resonance imaging characteristics of atlanto-axial subluxation in 42 dogs: Analysis of joint cavity size, subluxation distance, and craniocervical junction anomalies
- Author
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Kathryn Y. Bray, Simon R. Platt, Marc Kent, Natasha J. Olby, Peter J. Early, Christopher L. Mariani, Karen R. Muñana, and Shannon P. Holmes
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canine ,cervical ,congenital ,malformation ,myelopathy ,Zoology ,QL1-991 - Abstract
Background: Atlanto-axial (AA) subluxation can be a complex syndrome in dogs. Accurate identification and assessment of this condition is key to providing treatment and resolution. Aim: The purpose of this retrospective study was to describe the magnetic resonance imaging (MRI) characteristics of AA subluxation and associated neurologic deficits. Methods: A multicenter review of dogs with a diagnosis of AA subluxation was conducted, evaluating signalment, neurologic grade, duration of signs, and MRI characteristics. MRI characteristics included degree of spinal cord compression and joint subluxation, integrity of odontoid ligaments, presence of a dens, spinal cord signal intensity, and presence of syringohydromyelia, hydrocephalus, and Chiari-like malformation. A control population with normal AA joints was also evaluated. MR images of 42 dogs with AA subluxation were compared to 26 age and breed-matched control dogs. Results: Affected dogs had a median age of 27 months and median weight of 2.7 kg, and the most commonly affected breed was Yorkshire terrier (47.5%). Spinal cord signal hyperintensity, increased AA joint size, and cross-sectional cord compression at the level of the dens and mid-body C2 were associated with AA subluxation. No associations were found between cord compression, appearance of the dens, or cord signal intensity and neurologic grade. Affected dogs did not have a higher incidence of Chiari-like malformation, syringohydromyelia, or hydrocephalus than control dogs, and their neurologic grade was not associated with MRI findings. Lack of a dens and/or odontoid ligaments was associated with larger subluxations. Conclusion: Dogs with clinical signs of AA subluxation were significantly more likely to have intramedullary hyperintensity at the level of compression (p=0.0004), an increased AA joint cavity size (p=0.0005), and increased spinal cord compression at the level of dens and mid-body C2 (p=1.4mm and a subluxation distance >2.5mm as cutoffs for MRI diagnosis of AA subluxation in dogs. No differences were noted between dogs with AA subluxation and control dogs regarding syringohydromyelia, hydrocephalus, and Chiari-like malformation. [Open Vet J 2023; 13(9.000): 1091-1098] more...
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- 2023
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73. Pathogenesis of spinal intramedullary lipomas: two case reports
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Luis Miguel Moreno Gómez, Daniel García-Pérez, Pedro Juan González-León, Pablo M. Munarriz, and Ana María Castaño-León
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Spine ,Lipomas ,Dysraphism ,Recurrence ,Malformation ,Metabolism ,Medicine - Abstract
Abstract Background Spinal lipomas not associated with dysraphism are rare and have an unknown natural history. In this report, we describe two cases; they showed recurrence during long-term follow-up, which makes us doubt a benign malformative etiology. Case reports Two patients, a 19-year-old South American woman and a 14-year-old boy with spinal lipomas, underwent surgical resection. The lipomas were not associated with dysraphism and were located in the cervicothoracic and craniocervical junctions. In both cases, we decided to operate due to clinical progression; the former had a progressive natural course, and the latter experienced clinical worsening after recurrence from previous surgeries. The surgery took place with the assistance of neurophysiological monitoring and intraoperative ultrasound; a partial resection and medullary decompression were done, following the more recent recommendations. Discussion The natural history of these lesions is currently unknown due to their rarity and the heterogeneity in the long-term follow-up of previously reported cases. Although previous reports describe good outcomes after surgical resection, long follow-ups, especially in young subjects, may show differences in these outcomes with progression and recurrence. We contribute to this last piece of evidence by describing two more cases of progression and recurrence. Lessons Long-term close follow-up should be done in young subjects with spinal lipomas, as they are more prone to an aggressive course. Metabolism and hormonal changes may be behind this progression. Reoperation must be considered if neurological decline is detected. more...
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- 2023
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74. A male fetus with cyclopia was discovered after miscarriage: A rare case report from Syria
- Author
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Tala Dakkak, Marah Mansour, Habib Jarbouh, and Abdolmoin Ktail
- Subjects
alobar holoprosencephaly ,case report ,cyclopia ,malformation ,synophthalmia ,Medicine ,Medicine (General) ,R5-920 - Abstract
Key Clinical Message This case of alobar holoprosencephaly and cyclopia emphasizes the value of prenatal check‐ups, particularly in low‐income countries. Early ultrasound diagnosis leads to early gestational termination, preventing psychological trauma for the parents. Abstract Alobar holoprosencephaly is a rare‐occurrence malformation with a bad prognosis linked to cyclopia, the most severe cranial feature. Prenatal examinations are essential for identifying these deformities and preventing parental mental health damage. more...
- Published
- 2024
- Full Text
- View/download PDF
75. Magnetic resonance imaging characteristics of atlanto-axial subluxation in 42 dogs: Analysis of joint cavity size, subluxation distance, and craniocervical junction anomalies.
- Author
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Bray, Kathryn Y., Platt, Simon R., Kent, Marc, Olby, Natasha J., Early, Peter J., Mariani, Christopher L., Muñana, Karen R., and Holmes, Shannon P.
- Subjects
- *
MAGNETIC resonance imaging , *CRANIOVERTEBRAL junction , *DOGS , *SUBLUXATION , *SPINAL cord compression , *SYMPTOMS - Abstract
Background: Atlanto-axial (AA) subluxation can be a complex syndrome in dogs. Accurate identification and assessment of this condition are key to providing treatment and resolution. Aim: The purpose of this retrospective study was to describe the magnetic resonance imaging (MRI) characteristics of AA subluxation and associated neurologic deficits. Methods: A multicenter review of dogs with a diagnosis of AA subluxation was conducted, evaluating signalment, neurologic grade, duration of signs, and MRI characteristics. MRI characteristics included degree of spinal cord compression and joint subluxation, integrity of odontoid ligaments, presence of a dens, spinal cord signal intensity, and presence of syringohydromyelia, hydrocephalus, and Chiari-like malformation. A control population with normal AA joints was also evaluated. MR images of 42 dogs with AA subluxation were compared to 26 age and breed-matched control dogs. Results: Affected dogs had a median age of 27 months and a median weight of 2.7 kg, and the most commonly affected breed was the Yorkshire terrier (47.5%). Spinal cord signal hyperintensity, increased AA joint size, and cross-sectional cord compression at the level of the dens and mid-body C2 were associated with AA subluxation. No associations were found between cord compression, the appearance of the dens, or cord signal intensity and neurologic grade. Affected dogs did not have a higher incidence of Chiari-like malformation, syringohydromyelia, or hydrocephalus than control dogs, and their neurologic grade was not associated with MRI findings. Lack of dens and/or odontoid ligaments was associated with larger subluxations. Conclusion: Dogs with clinical signs of AA subluxation were significantly more likely to have intramedullary hyperintensity at the level of compression (p = 0.0004), an increased AA joint cavity size (p = 0.0005), and increased spinal cord compression at the level of dens and mid-body C2 (p ≤ 0.05). The authors suggest an AA joint cavity size >1.4 mm and a subluxation distance >2.5 mm as cutoffs for MRI diagnosis of AA subluxation in dogs. No differences were noted between dogs with AA subluxation and control dogs regarding syringohydromyelia, hydrocephalus, and Chiari-like malformation. [ABSTRACT FROM AUTHOR] more...
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- 2023
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76. Perinatal Prognosis of Pregnancies with Single Umbilical Artery in a Romanian Third-Level Unit.
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Levente Turos, János, Ladanyi, Emmanuel, Szabó, Tamás, and Szabó, Béla
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CARDIOVASCULAR system abnormalities , *CLEFT palate , *PREGNANCY outcomes , *COMPARATIVE studies , *BLOOD-vessel abnormalities , *PREGNANCY complications , *DESCRIPTIVE statistics , *UMBILICAL arteries , *FETAL abnormalities , *LONGITUDINAL method , *DISEASE complications , *FETUS ,DIGESTIVE organ abnormalities ,GENITOURINARY organ abnormalities - Abstract
Objectives: Single umbilical artery (SUA) is considered the most common abnormality of the umbilical artery. The objective of the study was to evaluate the perinatal prognosis of fetuses with SUA and to describe the associated malformations. The significance of the study is represented by examining whether our findings are in correlation with data already described. Methods: We performed a prospective cohort study on singleton pregnancies complicated with SUA. The study population was composed of women with singleton pregnancies who were examined at the Department of Obstetrics and Gynecology of the Târgu Mures County Emergency Clinical Hospital between 2012 and 2021. Results: The incidence of SUA in the study population was 0.48%. C-section was performed in 40 cases with SUA and in 5258 cases with no SUA (RR:1.56, P<0.05.) From the total number of 2249 premature deliveries, 23 newborns were diagnosed with SUA (RR:2.12, P<0.05.) From the total number of 869 deliveries with low birth weight (LBW) newborns, 13 were associated with SUA (RR: 3.12, P<0.05.) There were 206 pregnancies noted with antenatal fetal demise after 24 weeks of gestation, and only 2 of them were with SUA (RR:2.01, P>0.05.) Fetal and neonatal malformations were described in 290 cases, and 28 were associated with SUA (R:21.96, P<0.05.) In 57 of 85 cases (67.05%), we found iSUA, and 28 newborns (32.95%) had minor, major, or other associated pathologies. We found two cases of trisomy 18 and one case with trisomy 13 associated with SUA. Investigating the malformations associated with SUA, the most common were cardiac and great vessels malformations (12), followed by limb malformations (8), urogenital malformations (7), digestive tract malformations (7), central nervous system malformations (4), and in one case we found cleft palate. Conclusions: Perinatal prognosis regarding SUA is significantly poorer than in cases without this pathology. One-third of fetuses with SUA were associated with fetal anomalies. The most common pathologies associated with SUA were cardiovascular, limb, urogenital, and digestive system malformations. Our data are similar to those described in other studies; therefore, we conclude, we can implement the general recommendations in our region regarding counselling patients. [ABSTRACT FROM AUTHOR] more...
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- 2023
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77. Nietypowy przypadek nadliczbowości kończyn u cielęcia rasy holsztyńsko-fryzyjskiej odmiany czerwono-białej.
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Butkiewicz, Aleksander F., Balicki, Grzegorz, Zdun, Maciej, Żukowski, Kacper, Wieczorkiewicz, Maria, and Jaśkowski, Jędrzej M.
- Abstract
Developmental defects in cattle are an interesting phenomenon, often resulting from prenatal or postnatal factors such as malnutrition or the use of harmful drugs. They can have various causes, such as endocrine disorders, genetic defects, metabolic disorders and infectious diseases. Some malformations are lethal, such as amorphus globosus, acardius acephalus and acardius acormus. Survival of a newborn depends on the type of defect and its severity. Some defects can be treated surgically, while others have no breeding significance. Polymelia, the presence of redundant limbs, is a rare defect in cattle. This study presents a report on a case of atypical polymelia in a Holstein-Friesian Red and White calf. [ABSTRACT FROM AUTHOR] more...
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- 2023
78. Historic Horse Family Displaying Malformations of the Cervicothoracic Junction and Their Connection to Modern German Warmblood Horses.
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Zimmermann, Elisa, Ros, Katharina B., Pfarrer, Christiane, and Distl, Ottmar
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HORSE breeding , *HUMAN abnormalities , *HORSES , *CERVICAL vertebrae , *THORACIC vertebrae , *THOROUGHBRED horse - Abstract
Simple Summary: Malformations of the cervicothoracic junction have been described in modern horses as well as in skeletons from museums. In the present study, we examined five historical skeletons for signs of malformations of the cervicothoracic junction and were able to detect malformations of C6/C7 in three of the five historical horses. These three historical horses were the Thoroughbred stallions Dark Ronald XX, Der Loewe XX and Birkhahn XX. The two younger stallions Der Loewe XX and Birkhahn XX had a common great grandsire with Dark Ronald XX. Twenty living German Warmblood horses, descendants of these historical stallions, were recruited for evaluation for the malformation of C6/C7. For the modern horses, we estimated the inbreeding coefficient according to Wright through their ancestors of the last 110 years, which equals 11 generations, and quantified the blood percentages and the contribution to the inbreeding of the historical stallions in percentages. Our analyses showed that the C6/C7 malformations were highly variable in the historical horse family, with Dark Ronald XX, Der Loewe XX and Birkhahn XX being affected uni-laterally at C6 and C7, uni-laterally at C6 and bi-laterally at C6 and C7, respectively. In this sample of distant descendants of the historical stallions with C6/C7 malformation, a segregation between horses with and horses without C6/C7 malformation was demonstrated. Further studies with large samples and in-depth pedigree analyses will be warranted to show the effects of influential sires on the occurrence of malformations of the cervicothoracic junction in today's Warmblood population. Malformations of the equine cervicothoracic junction affect the C6 and C7 cervical vertebrae, the T1 thoracic vertebra and in variable extent the first and second sternal ribs. To date, the clinical impact of this malformation, its prevalence and mode of inheritance in equine populations are not yet determined. We examined five skeletons for signs of malformation of the cervicothoracic junction, including three skeletons from widely used Thoroughbred stallions affected with the malformation and two skeletons serving as a comparison. The three affected historical horses were the Thoroughbred stallions Der Loewe XX, Birkhahn XX and their common great grandsire Dark Ronald XX. Malformations of C6 and C7 showed a large variation between the three stallions, as Dark Ronald XX, Der Loewe XX and Birkhahn XX were affected uni-laterally at C6 and C7, uni-laterally at C6 and bi-laterally at C6 and C7, respectively, with varying grades. In order to evaluate whether or not these malformations are incidental, we took a random sample of 20 living German Warmblood horses, which are distant descendants of these stallions. This sample consisted of ten controls and ten horses with malformations of C6/C7. Blood proportions of the historical sires in the modern Warmblood horses ranged from 0.10 to 6.25%. The contribution to inbreeding in each individual horse of our selected horse group by those sires was expressed as a percentage of the total inbreeding coefficient and ranged from 0.01 to 17.96%, demonstrating their influence on the modern Warmblood. In the present study, we were able to describe the variability of the malformation of C6/C7 within a horse family including historic and modern horses. Additionally, we detected variations appearing in connection with malformations of the cervicothoracic junction that have not been described in the literature yet. This is the first time that the malformations of C6 and C7 have been described within a familial context, providing hints on inheritance in Thoroughbreds and Warmbloods. It is worthwhile to carry out further studies in a larger setting to gain more comprehensive insights into the inheritance of the malformation and the role of important ancestors. [ABSTRACT FROM AUTHOR] more...
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- 2023
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79. Headache as the presenting manifestation of Gorlin‐Goltz syndrome with diastematomyelia: A case report.
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Ghosh, Ritwik, León‐Ruiz, Moisés, Purkait, Siktha, Roy, Dipayan, Ghosh, Tapas, and Benito‐León, Julián
- Subjects
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BASAL cell nevus syndrome , *NEURAL tube defects , *HEADACHE , *MAGNETIC resonance imaging , *SPINAL cord - Abstract
Gorlin‐Goltz syndrome (GGS) is an autosomal dominant multisystemic disease with high penetrance. Headache heralding GGS has been previously reported but without discussing potential sources. We report a patient with headache and a novel association (diastematomyelia), which helped with the diagnosis. A 46‐year‐old woman presented with persistent holocranial headache. On examination, countless hyperpigmented basal cell nevi over the face, pits over the palmar/plantar surface, and palmar and plantar keratosis were observed. A magnetic resonance imaging (MRI) of the spinal cord revealed diastematomyelia. Diagnosis of GGS was finally made. Headache and diastematomyelia should be included in the clinical picture of GGS. [ABSTRACT FROM AUTHOR] more...
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- 2023
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80. Encephalic meningioangiomatosis in a dog with high-grade undefined glioma.
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Silveira, Brenda O., de Melo, Stella M.P., Cony, Fernanda G., Serena, Guilherme C., Pereira, Vanessa de C., de Castro, Lucas T., Wodzik, Vitória S., Bandinelli, Marcele B., Panziera, Welden, and Pavarini, Saulo P. more...
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GLIOMAS ,OCCIPITAL lobe ,NEUROGLIA ,SPINAL cord ,CELL populations ,DOGS - Abstract
Meningioangiomatosis (MA) is a rare proliferative meningovascular disorder that affects mainly the cerebral cortex, brainstem and spinal cord of humans and animals and can coexist with other proliferative disorders. A 7.5-year-old male Brazilian Campeiro Bulldog died after a convulsive crisis and cardiorespiratory arrest. At necropsy, a firm, white mass involving the piriform and right occipital lobes was seen. Histologically, the mass consisted of two morphologically distinct entities that collided: a congenital malformation characterized by a proliferation of meningothelial cells around blood vessels, within the perivascular spaces; and a neoplasm composed of two cell populations with astrocytic and oligodendrocytic differentiation. Meningothelial cells and neoplastic glial cells immunolabelled for vimentin. This first reported case of encephalic MA with a high-grade undefined glioma in a dog was confirmed through clinical signs, pathological and immunohistochemical findings. [Display omitted] [ABSTRACT FROM AUTHOR] more...
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- 2023
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81. Chiari I malformation: management evolution and technical innovation.
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Bianchi, Federico, Montedoro, Benedetta, Frassanito, Paolo, Massimi, Luca, and Tamburrini, Gianpiero
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ARNOLD-Chiari deformity , *POSTERIOR cranial fossa , *INTRACRANIAL hypertension - Abstract
Background and definition: In recent years thanks to the growing use of radiological assessment, Chiari I malformation became one of the major diseases for a neurosurgeon to deal with. CIM can be classified according to the extent of cerebellar tonsil tip into the foramen magnum being a protrusion over five mm considered pathological. Such a disease is a heterogeneous condition with a multifactorial pathogenetic mechanism that can subdivided into a primary and secondary form. Regardless of the form, it seems that CIM is the result of an imbalance between the volume of the braincase and its content. Acquired CIMs are secondary to conditions causing intracranial hypertension or hypotension while the pathogenesis of primary forms is still controversial. Pathogenesis and treatment: There are several theories in the literature but the most accepted one implies an overcrowding due to a small posterior cranial fossa. While asymptomatic CIM do not need treatment, symptomatic ones prompt for surgical management. Several techniques are proposed being the dilemma centered in the need for dural opening procedures and bony decompression ones. Conclusion: Alongside the paper, the authors will address the novelty presented in the literature on management, diagnosis and pathogenesis in order to offer a better understanding of such a heterogeneous pathology. [ABSTRACT FROM AUTHOR] more...
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- 2023
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82. Exome sequencing findings in children with annular pancreas.
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Pitsava, Georgia, Pankratz, Nathan, Lane, John, Yang, Wei, Rigler, Shannon, Shaw, Gary M., and Mills, James L.
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GENETIC variation , *MISSENSE mutation , *ECTOPIC tissue , *CELL migration , *HUMAN abnormalities , *PANCREAS , *MESENTERIC artery - Abstract
Background: Annular pancreas (AP) is a congenital defect of unknown cause in which the pancreas encircles the duodenum. Theories include abnormal migration and rotation of the ventral bud, persistence of ectopic pancreatic tissue, and inappropriate fusion of the ventral and dorsal buds before rotation. The few reported familial cases suggest a genetic contribution. Methods: We conducted exome sequencing in 115 affected infants from the California birth defects registry. Results: Seven cases had a single heterozygous missense variant in IQGAP1, five of them with CADD scores >20; seven other infants had a single heterozygous missense variant in NRCAM, five of them with CADD scores >20. We also looked at genes previously associated with AP and found two rare heterozygous missense variants, one each in PDX1 and FOXF1. Conclusion: IQGAP1 and NRCAM are crucial in cell polarization and migration. Mutations result in decreased motility which could possibly cause the ventral bud to not migrate normally. To our knowledge, this is the first study reporting a possible association for IQGAP1 and NRCAM with AP. Our findings of rare genetic variants involved in cell migration in 15% of our population raise the possibility that AP may be related to abnormal cell migration. [ABSTRACT FROM AUTHOR] more...
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- 2023
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83. Surgical outcome in class 4 congenital anomalies of the ossicular chain: a systematic review of the literature.
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Henkemans, S. E., Rovers, J., and Thomeer, H. G. X. M.
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EAR ossicles , *MIDDLE ear surgery , *AUDIOMETRY , *MIDDLE ear , *SENSORINEURAL hearing loss , *CONGENITAL disorders - Abstract
Objective: To review hearing and surgical outcomes after reconstructive middle ear surgery in class 4 congenital middle ear anomalies (CMEA), e.g., patients with oval- or round window atresia of dysplasia. Data sources: Pubmed/Medline, Embase and Cochrane library. Review methods: Articles containing data on hearing outcomes and complications after reconstructive ear surgery in class 4 anomalies were analyzed and critically appraised. The following data were included and reviewed: patient demographics, audiometric testing, surgical techniques, complications, revision surgeries and their outcomes. Risk of bias was determined, and GRADE certainty of evidence was assessed. Primary outcomes were postoperative air conduction thresholds (AC), change in AC, and success rates (closure of the ABG to within 20 dB), the occurrence of complications (most importantly sensorineural hearing loss) and the long-term stability of hearing results (> 6-month follow-up) and occurrence of recurrence of preoperative hearing loss. Results: Success rates varied from 12.5 to 75% at long-term follow-up with larger cohorts reporting success rates around 50%, mean postoperative gain in AC varied from 4.7 to 30 dB and − 8.6 to 23.6 dB at, respectively, short- and long-term follow-up. No postoperative change in hearing occurred in 0–33.3% of ears, and recurrence of hearing loss occurred in 0–66.7% of ears. SNHL occurred in a total of seven ears across all studies of which three experienced complete hearing loss. Conclusion: Reconstructive surgery can be an effective treatment option which should be considered in patients with very favorable baseline parameters, while also considering the substantial risk of recurrence of hearing loss, the possibility of unchanged hearing despite surgery and the rare occurrence of SNHL. Level of evidence: 2c. [ABSTRACT FROM AUTHOR] more...
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- 2023
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84. Smooth muscle hamartoma of the lungs in a Wistar Hannover rat.
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Shinya Miyazaki, Chinatsu Fujiwara, Yoshitaka Katoh, Tsuyoshi Ito, Aya Koyama, Naofumi Takahashi, Atsushi Shiga, and Takanori Harada
- Abstract
Hamartomas are tumor-like masses comprising disorganized normal tissue elements. To date, spontaneous hamartomas have been reported in several organs and tissues in rodents but not in the lungs. Here, we report the first case of a hamartoma in the lungs of a 108-week-old female Wistar Hannover rat. Grossly, a white spot, 7 mm in diameter, was observed on the costal surface of the left lung. Histopathologically, the nodular lesions adjacent to the bronchioles comprised mature smooth muscle cells. The lesion was not encapsulated and spread along the alveolar walls and ducts without compression of the surrounding tissue. In the nodules, elastic fibers enclosed small lumens lined with factor VIII-related antigen-positive endothelial cells. This structure suggested that the nodule mimicked an artery. Moreover, structural abnormalities were observed within the bronchioles and arterioles owing to the increased number of smooth muscle cells in the surrounding tissues. These features suggested that this was a case of tissue malformation rather than a neoplasm, leading to the diagnosis of a smooth muscle hamartoma of the lung. [ABSTRACT FROM AUTHOR] more...
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- 2023
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85. Vestibular hydrops in patients with semicircular canal malformation.
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Niu, Yue, Chen, Wei, Lin, Mengyan, and Sha, Yan
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SEMICIRCULAR canals , *EAR canal , *INNER ear , *EDEMA , *MENIERE'S disease - Abstract
To investigate the vestibular endolymphatic hydrops in patients with semicircular canal malformation. We searched 7864 patients who underwent MR Imaging after contrast injection and found 21 patients with semicircular canal malformations. Another 9 non-malformed patients with unilateral hearing loss were randomly included. We asked patients about their medical history and measured the volume of total vestibular fluid space and endolymphatic space. The vestibular volume ratio = endolymphatic space/total fluid space × 100. Hearing loss was observed in 18 of 30 malformed ears and in 7 of 12 non-malformed ears. Statistical analysis showed no association between semicircular canal malformation and hearing loss. In the semicircular canal malformation group, the average vestibular volume ratio (22.6%) in the ears with hearing loss was higher than that in the ears without hearing loss (11.4%). There was no statistically significant difference in the average vestibular %EL in ears with hearing loss between the malformed inner ear group (22.6%) and non-malformed group (28.2%) (P>0.05). There was no correlation between semicircular canal malformation and hearing loss. The mean vestibular hydrops volume ratio of the semicircular canal deformed ears with hearing loss was about 22.6%, which was not different from that of normal ears. [ABSTRACT FROM AUTHOR] more...
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- 2023
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86. Homeotic transformation in a terrestrial isopod: insights into the appendage identity in crustaceans.
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Inui, Naoto and Miura, Toru
- Abstract
In many crustacean species, an individual possesses both uniramous and biramous appendages that enable us to compare the two types on the same genetic background. Therefore, among the diverse morphologies of arthropod appendages, crustacean biramous appendages provide interesting subjects for studying the developmental mechanisms underlying appendage modifications. In this study, we report a malformed specimen of the terrestrial isopod Porcellio scaber, in which one of the pleopods was transformed into a different structure. Morphological observations of exoskeletons and musculatures by confocal scanning laser microscopy revealed that the transformed appendage was three-segmented, with at least the apical two segments having pereopod-like musculoskeletal structures. The apical segment of the transformed appendage lacked muscles, and the following segment had a pair of muscle bundles. These findings together with those of some previous studies of gene expression patterns in this species suggest that this anomaly could be caused by homeotic transformation of a flap-like pleopod into a three-segmented pereopod tip, which may be a homologous structure of the pleopod. [ABSTRACT FROM AUTHOR] more...
- Published
- 2023
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87. A Case History of Gross and Radiological Observations of Agnathia: Otocephaly in a Mehraban Ewe-lamb.
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Babaei, Mohammad, Yavari, Morteza, Zolhavarieh, Seyed Masoud, and Hesari, Ali Kalantari
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RADIOLOGY ,EYE ,PHARYNGEAL cancer ,NASOPHARYNX ,NASAL cavity - Abstract
Agnathia is one of the first pharyngeal arch deformities referred to as mandibular abnormality. This case report aimed to describe an unusual form of agnathia-otocephaly in a Mehraban ewelamb accompanied by other malformations. The scrutiny of the lamb's face indicated a chain of abnormalities in the head region. Lack of mandible, lips, rima oris, oral cavity, tongue, and teeth were recognized. Eyes and ear lobes were normal, but the base of the pinnae met each other ventral to the atlantooccipital joint and formed a single external acoustic meatus there. The nostrils were normally formed, but the philtrum was not formed due to the lack of lips, especially the upper lip. The hyoid apparatus was normally developed. The laryngopharynx had no connection with the nasopharynx and dead end. Also, the nasal cavities ended blindly because of rinopharyngeal aplasia and no choanal foramen. So, the abnormal pharyngeal region caused a non-functional respiratory system followed by death. [ABSTRACT FROM AUTHOR] more...
- Published
- 2023
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88. Systemic and CNS manifestations of inherited cerebrovascular malformations
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Hart, Blaine L, Mabray, Marc C, Morrison, Leslie, Whitehead, Kevin J, and Kim, Helen
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Biomedical and Clinical Sciences ,Ophthalmology and Optometry ,Rare Diseases ,Neurodegenerative ,Neurosciences ,Genetics ,Brain Disorders ,2.1 Biological and endogenous factors ,Aetiology ,Cerebral Arteries ,Diagnostic Imaging ,Hemangioma ,Cavernous ,Central Nervous System ,Humans ,Skin ,Telangiectasia ,Hereditary Hemorrhagic ,Cerebrovascular malformations ,Cerebral cavernous malformation ,Arteriovenous malformation ,Neurocutaneous syndrome ,Capillary malformation-arteriovenous ,malformation ,Capillary malformation-arteriovenous malformation ,Clinical Sciences ,Nuclear Medicine & Medical Imaging ,Clinical sciences - Abstract
Cerebrovascular malformations occur in both sporadic and inherited patterns. This paper reviews imaging and clinical features of cerebrovascular malformations with a genetic basis. Genetic diseases such as familial cerebral cavernous malformations and hereditary hemorrhagic telangiectasia often have manifestations in bone, skin, eyes, and visceral organs, which should be recognized. Genetic and molecular mechanisms underlying the inherited disorders are becoming better understood, and treatments are likely to follow. An interaction between the intestinal microbiome and formation of cerebral cavernous malformations has emerged, with possible treatment implications. Two-hit mechanisms are involved in these disorders, and additional triggering mechanisms are part of the development of malformations. Hereditary hemorrhagic telangiectasia encompasses a variety of vascular malformations, with widely varying risks, and a more recently recognized association with cortical malformations. Somatic mutations are implicated in the genesis of some sporadic malformations, which means that discoveries related to inherited disorders may aid treatment of sporadic cases. This paper summarizes the current state of knowledge of these conditions, salient features regarding mechanisms of development, and treatment prospects. more...
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- 2021
89. Cystic lymphangioma presenting as an acute abdomen in an adult male with congenital aortic stenosis
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Shriranshini Satheakeerthy, MBBS, MTrauma, Varsha Sharma, FRACS, and Frederick Huynh, FRACS
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Acute abdomen ,Surgery ,Lymphangioma ,Congenital ,Malformation ,Medical physics. Medical radiology. Nuclear medicine ,R895-920 - Abstract
Abdominal cystic lymphangioma rarely presents as an acute abdomen. In this article, we describe a young adult male with congenital aortic stenosis who initially presented with abdominal pain and raised inflammatory markers. The imaging in the form of a computed tomography scan was unfortunately inconclusive. In the evolution of this diagnostic dilemma, we describe the importance of early operative management as well as explore the link between cardiac and lymphatic malformations. more...
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- 2023
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90. Bicornuate uterus: A rare case of a viable full term pregnancy in the right uterine horn
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Teddy Ikhuoriah, MBBS, David Oboh, MBBS, Chiya Abramowitz, BA, MS, and Yakubmiyer Musheyev, BS
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Bicornuate Uterus ,Genitourinary ,Pregnancy ,malformation ,MRI ,HSG ,Medical physics. Medical radiology. Nuclear medicine ,R895-920 - Abstract
Bicornuate uterus is a rare congenital uterine malformation and structural abnormality that affects less than 05 % of women in the United States. Resulting pregnancies are rarely carried to term and commonly result in fetal abnormalities and complications such as decreased fertility and risks of complicated pregnancies such as spontaneous abortion and miscarriages, IUGR, preterm delivery, cervical incompetence, and fetal malpresentations. This report highlights a case in which a 32-year-old patient with a bicornis bicollis uterus who had a viable pregnancy in one of the uterine horns later delivered a live male neonate at term without complications via spontaneous vaginal delivery (SVD). The study underscores the importance of using the imaging modalities of ultrasonography, magnetic resonance imaging, and hysterosalpingograms to aid in the diagnosis and monitoring throughout the duration of the pregnancy. more...
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- 2023
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91. Clinical characteristics of patients with prenatal hydronephrosis in early postnatal period: a single center retrospective study
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Song-Lei Gu, Xiao-Qing Yang, Yi-Hui Zhai, Wen-Li Xu, Wen-Xing Guo, and Tong Shen
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Hydronephrosis ,Malformation ,Urinary tract dilation ,Urinary tract infection ,Surgery ,Pediatrics ,RJ1-570 - Abstract
Abstract Background The study aims to investigate the clinical characteristics of early postnatal period in children with prenatal hydronephrosis (HN) in our single center for 8 years. Study design The clinical data of 1137 children with prenatal HN from 2012 to 2020 were retrospectively analyzed in our center. Variables of our study mainly included different malformations and urinary tract dilation (UTD) classification, and main outcomes were recurrent hospitalization, urinary tract infection (UTI), jaundice, and surgery. Results Among the 1137 children with prenatal HN in our center, 188 cases (16.5%) were followed-up in early postnatal period, and 110 cases (58.5%) were found malformations. The incidence of recurrent hospitalization (29.8%) and UTI (72.5%) were higher in malformation, but the incidence of jaundice (46.2%) was higher in non-malformation(P more...
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- 2023
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92. The ethanolic extract of Salvia lachnostachys Benth is not maternotoxic, does not alter reproductive performance, but has teratogenic potential
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Hudman Cunha Ortiz, Silvia Cordeiro das Neves, Cândida Aparecida Leite Kassuya, Henrique Rodrigues Scherer Coelho, Allana C. F. Martins, Marcelo Luiz Brandão Vilela, Valter Aragão do Nascimento, Arunachalam Karuppusamy, Maria Élida Alves Stefanello, Rodrigo Juliano Oliveira, and Roberto da Silva Gomes more...
- Subjects
Teratogenesis ,Malformation ,Genotoxicity ,Medicinal plants ,Other systems of medicine ,RZ201-999 - Abstract
Abstract Salvia lachnostachys Benth is native to Brazil and has anti-inflammatory, anti-arthritic, cytotoxic, antitumor, and antihyperalgesic activities. The population, including pregnant women, consume this plant to treat pain, inflammation, flu, spasms, insomnia, and depression, mainly. There are no safety reports on the use of this plant during pregnancy. The present study aimed to evaluate the effects of S. lachnostachys ethanolic extract (EESl) on reproductive performance, embryofetal development, and DNA integrity of pregnant female mice. Pregnant females were randomly divided into three experimental groups (n = 10): The Control group was treated with a vehicle, and treatment groups were administered with EESl at 100 and 1000 mg/kg, respectively. Treatment occurred by gavage throughout the gestational period until day 18. Afterward, reproductive performance, embryofetal development, and DNA integrity parameters were evaluated. The results indicated that EESl did not alter any reproductive performance parameters. However, it changed embryofetal outcome through reduced placental weight (EESl 100 mg/kg), decreased fetal weight (EESl 100 and 1000 mg/kg), and increased frequency of small for gestational age fetuses (EESl 1000 mg/kg). In addition, EES1 increased the frequency of external, visceral, and skeletal malformations. Because of the above, it is considered that EESl is not maternotoxic, does not alter reproductive performance, but does alter embryofetal development. Its use in the gestational period is not indicated due to its teratogenic potential. more...
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- 2023
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93. Pediatric anterior choroidal artery aneurysm successfully coiled after re-rupture.
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Crowe, Jonathan R, Geffrey, Alexandra L, Vranic, Justin, Regenhardt, Robert W, Patel, Aman, and Armstrong-Javors, Amy
- Abstract
Pediatric cerebral aneurysms are rare, and pediatric anterior choroidal artery aneurysms are very rarely reported. A 14-month-old male with no personal or family history of connective tissue disorders or Moyamoya disease presented with a right temporal intracerebral hemorrhage with intraventricular extension. CTA was negative for vascular pathology, but digital subtraction angiography revealed an anterior choroidal artery aneurysm that was successfully coiled. This case underscores the importance of performing digital subtraction angiography in children presenting with intracerebral hemorrhage concerning for vascular pathology even if non-invasive vascular imaging is negative. [ABSTRACT FROM AUTHOR] more...
- Published
- 2024
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94. Evaluation of colloidal chitosan against diamond back moth Plutella xylostella L. on cauliflower
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Selva, Rani S, Shanthi, M, Murugan, M, Senthil, K, Vellaikumar, S, and Haripriya, S
- Published
- 2023
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95. The Male Reproductive Toxicity Caused by 2-Naphthylamine Was Related to Testicular Immunity Disorders
- Author
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Pengyuan Dai, Mengqian Ding, Jingyan Yu, Yuan Gao, Miaomiao Wang, Jie Ling, Shijue Dong, Xiaoning Zhang, Xuhui Zeng, and Xiaoli Sun
- Subjects
2-naphthylamine ,testis ,sperm motility ,malformation ,lipid metabolism ,immunity ,Chemical technology ,TP1-1185 - Abstract
2-naphthylamine (NAP) was classified as a group I carcinogen associated with bladder cancer. The daily exposure is mostly from cigarette and E-cigarette smoke. NAP can lead to testicular atrophy and interstitial tissue hyperplasia; however, the outcomes of NAP treatment on spermatogenesis and the associated mechanisms have not been reported. The study aimed to investigate the effect of NAP on spermatogenesis and sperm physiologic functions after being persistently exposed to NAP at 5, 20, and 40 mg/kg for 35 days. We found that sperm motility, progressive motility, sperm average path velocity, and straight-line velocity declined remarkably in the NAP (40 mg/kg) treated group, and the sperm deformation rate rose upon NAP administration. The testis immunity- and lipid metabolism-associated processes were enriched from RNA-sequence profiling. Plvap, Ccr7, Foxn1, Trim29, Sirpb1c, Cfd, and Lpar4 involved in testis immunity and Pnliprp1 that inhibit triglyceride and cholesterol absorption were confirmed to rise dramatically in the NAP-exposed group. The increased total cholesterol and CD68 levels were observed in the testis from the NAP-exposed group. Gpx5, serving as an antioxidant in sperm plasma, and Semg1, which contributes to sperm progressive motility, were both down-regulated. We concluded that the short-term exposure to NAP caused reproductive toxicity, primarily due to the inflammatory abnormality in the testis. more...
- Published
- 2024
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96. Sublethal Effects of Spirotetramat, Cyantraniliprole, and Pymetrozine on Aphis gossypii (Hemiptera: Aphididae)
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Se Eun Kim, Hyun Kyung Kim, and Gil Hah Kim
- Subjects
Aphis gossypii ,cyantraniliprole ,pymetrozine ,life table parameter ,malformation ,spirotetramat ,Science - Abstract
The toxicity and sublethal effects of three insecticides (spirotetramat, cyantraniliprole, and pymetrozine) on Aphis gossypii, a major agricultural pest, were investigated. The nymphal stage showed greater susceptibility than the adult stage to all the insecticides, with a difference of up to 8.9 times at the LC50 of spirotetramat. The effects of sublethal concentrations (LC10, LC30, LC50, and LC70) of the insecticides on the on the developmental period, survival rate, adult longevity, fecundity, and deformity rate were compared with those of the control. Compared with the control, cyantraniliprole and pymetrozine did not significantly affect the developmental period in the parental or F1 generation when applied at the nymphal stage at any concentration. Nonviable nymphs occurred in the F1 generation when both nymphs and adults were treated with spirotetramat and cyantraniliprole but not in the F2 generation. The age-specific maternity (lxmx) of A. gossypii treated with sublethal concentrations (LC10, LC30) decreased with increasing concentration. Spirotetramat at the LC30 resulted in significant differences in all life table parameters (R0, rm, λ, T, DT) compared with those of the control. Similarly, compared with that of the control (43.8), the net reproductive rate (R0) significantly decreased for all the insecticides except cyantraniliprole at the LC10 (37.5). Therefore, this study indicated that sublethal concentrations (over the LC30) of spirotetramat, cyantraniliprole, or pymetrozine might be useful for the density management of A. gossypii. more...
- Published
- 2024
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97. Amniotic Band Syndrome with CTEV and Meningocele: A Rare Case Report
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Sandeep Shrestha, Kamal Prasad Thani, Uttara Gautam, Nishan Bhattarai, Annie Shrestha, Munna Keshari, Akina Sainju, Santosh Lamichhane, and Pooja Thapaliya
- Subjects
Amniotic band syndrome ,Malformation ,Neonate ,Medicine (General) ,R5-920 - Abstract
Amniotic band syndrome (ABS) is a group of rare congenital abnormalities caused by wrapping of parts of the foetus by fibrous amniotic bands during intrauterine life. It can be seen in infants without any known genetic mutations. Band formation most frequently affects the distal segments, including the hand. Here, we report a case of a neonate who presented with multiple congenital abnormalities and clinical features that suggest the Amniotic Band Syndrome. It was delivered by a 17-year-old female patient at 28 weeks period of gestation, who had a medical abortion. more...
- Published
- 2023
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98. Exome sequencing findings in children with annular pancreas
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Georgia Pitsava, Nathan Pankratz, John Lane, Wei Yang, Shannon Rigler, Gary M. Shaw, and James L. Mills
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annular pancreas ,cell migration ,IQGAP1 ,malformation ,NRCAM ,Genetics ,QH426-470 - Abstract
Abstract Background Annular pancreas (AP) is a congenital defect of unknown cause in which the pancreas encircles the duodenum. Theories include abnormal migration and rotation of the ventral bud, persistence of ectopic pancreatic tissue, and inappropriate fusion of the ventral and dorsal buds before rotation. The few reported familial cases suggest a genetic contribution. Methods We conducted exome sequencing in 115 affected infants from the California birth defects registry. Results Seven cases had a single heterozygous missense variant in IQGAP1, five of them with CADD scores >20; seven other infants had a single heterozygous missense variant in NRCAM, five of them with CADD scores >20. We also looked at genes previously associated with AP and found two rare heterozygous missense variants, one each in PDX1 and FOXF1. Conclusion IQGAP1 and NRCAM are crucial in cell polarization and migration. Mutations result in decreased motility which could possibly cause the ventral bud to not migrate normally. To our knowledge, this is the first study reporting a possible association for IQGAP1 and NRCAM with AP. Our findings of rare genetic variants involved in cell migration in 15% of our population raise the possibility that AP may be related to abnormal cell migration. more...
- Published
- 2023
- Full Text
- View/download PDF
99. Development and clinical validation of real‐time artificial intelligence diagnostic companion for fetal ultrasound examination.
- Author
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Stirnemann, J. J., Besson, R., Spaggiari, E., Rojo, S., Loge, F., Peyro‐Saint‐Paul, H., Allassonniere, S., Le Pennec, E., Hutchinson, C., Sebire, N., and Ville, Y.
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FETAL ultrasonic imaging , *ARTIFICIAL intelligence , *DECISION support systems , *PRENATAL diagnosis , *DIAGNOSIS , *POSTMORTEM changes - Abstract
Objective: Prenatal diagnosis of a rare disease on ultrasound relies on a physician's ability to remember an intractable amount of knowledge. We developed a real‐time decision support system (DSS) that suggests, at each step of the examination, the next phenotypic feature to assess, optimizing the diagnostic pathway to the smallest number of possible diagnoses. The objective of this study was to evaluate the performance of this real‐time DSS using clinical data. Methods: This validation study was conducted on a database of 549 perinatal phenotypes collected from two referral centers (one in France and one in the UK). Inclusion criteria were: at least one anomaly was visible on fetal ultrasound after 11 weeks' gestation; the anomaly was confirmed postnatally; an associated rare disease was confirmed or ruled out based on postnatal/postmortem investigation, including physical examination, genetic testing and imaging; and, when confirmed, the syndrome was known by the DSS software. The cases were assessed retrospectively by the software, using either the full phenotype as a single input, or a stepwise input of phenotypic features, as prompted by the software, mimicking its use in a real‐life clinical setting. Adjudication of discordant cases, in which there was disagreement between the DSS output and the postnatally confirmed ('ascertained') diagnosis, was performed by a panel of external experts. The proportion of ascertained diagnoses within the software's top‐10 differential diagnoses output was evaluated, as well as the sensitivity and specificity of the software to select correctly as its best guess a syndromic or isolated condition. Results: The dataset covered 110/408 (27%) diagnoses within the software's database, yielding a cumulative prevalence of 83%. For syndromic cases, the ascertained diagnosis was within the top‐10 list in 93% and 83% of cases using the full‐phenotype and stepwise input, respectively, after adjudication. The full‐phenotype and stepwise approaches were associated, respectively, with a specificity of 94% and 96% and a sensitivity of 99% and 84%. The stepwise approach required an average of 13 queries to reach the final set of diagnoses. Conclusions: The DSS showed high performance when applied to real‐world data. This validation study suggests that such software can improve perinatal care, efficiently providing complex and otherwise overlooked knowledge to care‐providers involved in ultrasound‐based prenatal diagnosis. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR] more...
- Published
- 2023
- Full Text
- View/download PDF
100. Pseudopathologic findings on panoramic radiographs and utility of follow-up cone beam computed tomographic scans: a case series.
- Author
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Brooks, John K., Kumar, Vandana, Parsa, Azin, and Price, Jeffery B.
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FACIAL anatomy ,PANORAMIC radiography ,MAXILLA ,DIFFERENTIAL diagnosis ,ORAL disease diagnosis ,DENTAL radiography ,MASTICATION ,COMPUTED tomography ,MEDICAL digital radiography - Abstract
Conventional radiography is the mainstay for evaluation of developmental and pathologic disorders of oral and maxillofacial structures. Occasionally, clinicians may experience diagnostic pitfalls during interpretation of these imaging modalities. The aim of this article is to present 4 cases of pseudopathologic disorders found on intraoral and panoramic radiographs. Subsequent use of cone beam computed tomographic (CBCT) imaging determined that the initial concerning findings represented anatomical or radiographic anomalies rather than pathologic processes. Supplemental use of CBCT scans may enhance diagnostic assessment, possibly reducing the need for surgical intervention, and elucidate structurally compromised regions of the jaw that could predispose it to fracture. [ABSTRACT FROM AUTHOR] more...
- Published
- 2023
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