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1.
Cureus ; 16(3): e56438, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38646299

RESUMO

The global adoption of remote thyroidectomy is increasing, with the transoral endoscopic thyroidectomy vestibular approach (TOETVA) and transareolar approach (TAA) emerging as predominant methods. However, existing meta-analyses comparing these approaches to operative surgeries and short-term postoperative complications have significant limitations. To address this gap, our meta-analysis provides a comprehensive comparison between the TOETVA and TAA, focusing on operation time, intraoperative blood loss, postoperative drainage, and hospital stay duration. It aims to offer robust insights into their relative efficacy and safety profiles. We searched SCOPUS, PubMed, Web of Science, MEDLINE, and Cochrane Library from June 2015 to January 2024 for studies comparing transoral endoscopic thyroidectomy with the vestibular approach and areolar thyroidectomy using keywords, including "transoral thyroidectomy" and "scarless thyroidectomy." Studies were included if they were randomized controlled trials, case-control studies, or prospective/retrospective cohort studies comparing the TOETVA and TAA. Exclusion criteria removed case series, cross-sectional studies, editorials, non-English language, animal studies, and irrelevant articles. Data on operative time, postoperative drainage, intraoperative blood loss, and hospital stay were extracted. The Newcastle-Ottawa Scale was used to assess study quality (all studies scored 7-8). The findings revealed that the operative time was longer among the TOETVA group, with less intraoperative blood loss (odds ratio (OR) = 13.31, 95% confidence interval (CI) = 4.44-22.19); OR = -1.61, 95% CI = -2.82 to -0.39, respectively). Regarding hospitalization duration and postoperative drainage, no discernible difference was observed between the endoscopic TAA (ETAA) and TOETVA (OR = -0.04, 95% CI = -0.24 to 0.16; OR = -6.74, 95% CI = -20.08 to 6.60, respectively). The TOETVA has advantages over the TAA in terms of intraoperative blood loss and shorter operation times. However, both approaches exhibited comparable outcomes in terms of hospital stay duration and postoperative drainage. Furthermore, extensive randomized trials are warranted.

2.
Open Vet J ; 14(3): 846-851, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38682139

RESUMO

Background: Healthy vision in humans and animals requires a stable tear film. The environmental factor could affect the status of the tear film. Therefore, assessing the tear film in animals is essential to avoid visual system disturbance. Aim: The current research used a noninvasive device to evaluate the tear meniscus height (TMH) and lipid layer pattern (LLP) in domestic cats. In addition, the scores were compared with those of humans with healthy eyes. Methods: Fifty-four domestic cats (28 males and 26 females; mean ± SD = 13.9 ± 18.2 months) were randomly selected and included in the study. The cats were healthy, without any ocular disorders or diseases. Fifty-four healthy eye subjects (27 males and 27 females; mean ± SD = 25.6 ± 5.1 years) were randomly recruited and took part in the study for comparison. EASYTEAR View+ was used, for the first time, to assess the tear film parameters on the right eye of each subject. The examiner allowed a 5-minute gap between the tests. Each test was performed by the same examiner three times, followed by calculating the mean scores. Results: Significant differences (Mann-Whitney U test) were found in the median scores of LLP (p = 0.009) between cats and subjects with healthy eyes. The median TMH score was higher in cats (0.18 mm) than in humans (0.14). However, no significant difference (Mann-Whitney U Test, p = 0.210) exists in the TMH scores between cats and humans. The LLP analysis indicated that a dense white-blue lipid layer (grade 4 or D; lipid layer thickness, LLT, = approximately 80 nm) was predominant in both cats (N = 24, 44.4%) and humans (N = 29, 53.7%). In comparison, variable colors lipid layer (grade 5 or E; LLT = 90-140 nm) was a minority in cats (N = 5, 9.3%) and common in humans (N = 16, 29.6%). The statistical analysis indicated medium correlations between cats' TMH and LLP scores (r = 0.431, p < 0.01) and between age and TMH scores in humans (r = 0.440, p < 0.01). In addition, it indicated a weak correlation (r = 0.291, p < 0.05) between the LLP scores in cats and humans. Conclusion: Assessing animals' tear film is essential to avoid any ocular disorders. EASYTEAR View+ is efficiently used to evaluate domestic cats' TMH and LLP. Cats have thicker lipid layers and longer TMH comparable to those reported for humans with healthy eyes.


Assuntos
Lágrimas , Animais , Gatos/fisiologia , Lágrimas/fisiologia , Masculino , Feminino , Lipídeos/análise , Humanos
3.
Cureus ; 16(2): e54352, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38500912

RESUMO

A 60-year-old woman presented with a history of a previously diagnosed sellar mass and a recent onset of severe headache, vision loss, and dizziness. The patient was found to have a large mass with curvilinear calcification on imaging. Histopathology confirmed the presence of a pituitary adenoma with abnormal acini, consistent with adenoma, and moderate amounts of granular eosinophilic cytoplasm. A detailed analysis of the patterns of calcification and the radiological morphology is crucial to distinguishing between pituitary adenoma and craniopharyngioma. Recognition of these patterns can aid in distinguishing between these conditions, providing a more accurate diagnosis and an effective treatment plan.

4.
Antimicrob Agents Chemother ; 68(3): e0122223, 2024 Mar 06.
Artigo em Inglês | MEDLINE | ID: mdl-38265216

RESUMO

Clostridioides difficile infection (CDI) is a leading cause of hospital-acquired diarrhea, which often stems from disruption of the gut microbiota by broad-spectrum antibiotics. The increasing prevalence of antibiotic-resistant C. difficile strains, combined with disappointing clinical trial results for recent antibiotic candidates, underscores the urgent need for novel CDI antibiotics. To this end, we investigated C. difficile enoyl ACP reductase (CdFabK), a crucial enzyme in de novo fatty acid synthesis, as a drug target for microbiome-sparing antibiotics. To test this concept, we evaluated the efficacy and in vivo spectrum of activity of the phenylimidazole analog 296, which is validated to inhibit intracellular CdFabK. Against major CDI-associated ribotypes 296 had an Minimum inhibitory concentration (MIC90) of 2 µg/mL, which was comparable to vancomycin (1 µg/mL), a standard of care antibiotic. In addition, 296 achieved high colonic concentrations and displayed dosed-dependent efficacy in mice with colitis CDI. Mice that were given 296 retained colonization resistance to C. difficile and had microbiomes that resembled the untreated mice. Conversely, both vancomycin and fidaxomicin induced significant changes to mice microbiomes, in a manner consistent with prior reports. CdFabK, therefore, represents a potential target for microbiome-sparing CDI antibiotics, with phenylimidazoles providing a good chemical starting point for designing such agents.


Assuntos
Clostridioides difficile , Infecções por Clostridium , Animais , Camundongos , Vancomicina/farmacologia , Oxirredutases , Antibacterianos/farmacologia , Antibacterianos/uso terapêutico , Fidaxomicina/farmacologia , Infecções por Clostridium/tratamento farmacológico
5.
bioRxiv ; 2023 Sep 22.
Artigo em Inglês | MEDLINE | ID: mdl-37790427

RESUMO

Clostridioides difficile infection (CDI) is a leading cause of hospital-acquired diarrhea, which often stem from disruption of the gut microbiota by broad-spectrum antibiotics. The increasing prevalence of antibiotic-resistant C. difficile strains, combined with disappointing clinical trials results for recent antibiotic candidates, underscore the urgent need for novel CDI antibiotics. To this end, we investigated C. difficile enoyl ACP reductase (CdFabK), a crucial enzyme in de novo fatty acid synthesis, as a drug target for microbiome-sparing antibiotics. To test this concept, we evaluated the efficacy and in vivo spectrum of activity of the phenylimidazole analog 296, which is validated to inhibit intracellular CdFabK. Against major CDI-associated ribotypes 296 had an MIC90 of 2 µg/ml, which was comparable to vancomycin (1 µg/ml), a standard of care antibiotic. In addition, 296 achieved high colonic concentrations and displayed dosed-dependent efficacy in mice with colitis CDI. Mice that were given 296 retained colonization resistance to C. difficile and had microbiomes that resembled the untreated mice. Conversely, both vancomycin and fidaxomicin induced significant changes to mice microbiomes, in a manner consistent with prior reports. CdFabK therefore represents a potential target for microbiome-sparing CDI antibiotics, with phenylimidazoles providing a good chemical starting point for designing such agents.

7.
Cureus ; 15(8): e43936, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37746515

RESUMO

BACKGROUND: A considerable majority of people have gastroesophageal reflux disease (GERD), a common gastrointestinal ailment. Globally, the prevalence of GERD has been rising, and it is linked to several risk factors. In this study, the incidence of GERD in a sample of the population was examined, along with the associated factors that may have an impact on it. METHODOLOGY:  The Gastroesophageal Reflux Disease Questionnaire (GERD-Q) was included in a self-administered survey given to 490 participants in a cross-sectional study to help determine who was more likely to have GERD. The questionnaire collected data on demographic elements, health-related traits, and past GERD diagnoses. RESULTS: The findings revealed that 32.7% of the individuals had previously received a GERD diagnosis. Of the patients, 17.1% had a GERD-Q score of 8 or above, which indicates a higher likelihood of having GERD. Participants who had previously been diagnosed with GERD had a noticeably greater incidence of GERD, and females had a higher incidence of GERD than males. The frequency of caffeine consumption was substantially correlated with the occurrence of GERD. CONCLUSION: Our study emphasizes the value of early GERD diagnosis and therapy to reduce problems and enhance the quality of life for those who are affected. According to our research, coffee use, gender, and prior GERD diagnoses are all linked to an increased risk of developing GERD. The GERD-Q is a trustworthy and proven tool for GERD diagnosis and might be used in clinical practice to recognize GERD patients and offer suitable treatment. Additional research is required to determine how additional risk variables affect the prevalence of GERD.

8.
Cureus ; 15(8): e43700, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37724201

RESUMO

Rotational atherectomy (RA) is an endovascular procedure to ablate calcified plaque and is an integral tool for complex percutaneous coronary intervention (PCI). Rotational atherectomy increases the risk of periprocedural complications. One of the major complications of RA is coronary perforation, which has a reported incidence of up to 2%. It is usually identified and managed within the procedure. Rarely, there are delayed and unanticipated complications that can be missed, causing significant morbidity and mortality. We present a rare case of a patient with a late presentation of cardiac tamponade days after a complex PCI with RA.

9.
Cureus ; 15(6): e41019, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37519491

RESUMO

While the presence of metastatic melanocytoma in the central nervous system (CNS) is relatively common, primary spinal melanocytoma (PSM) is an extremely rare entity. Only 70 cases have been reported, and its usual position is the cervical region. We report a case of a 35-year-old male with primary spinal intramedullary melanocytoma with a dorsal exophytic component. The tumor was first opened in the periphery and was closed without being operated upon due to it being an uncommon pathology.

10.
J Neuroophthalmol ; 43(4): 499-503, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-37314860

RESUMO

BACKGROUND: To investigate the association of optic neuritis (ON) after the COVID-19 vaccines. METHODS: Cases of ON from Vaccine Adverse Event Reporting System (VAERS) were collected and divided into the prepandemic, COVID-19 pandemic, and COVID-19 vaccine periods. Reporting rates were calculated based on estimates of vaccines administered. Proportion tests and Pearson χ 2 test were used to determine significant differences in reporting rates of ON after vaccines within the 3 periods. Kruskal-Wallis testing with Bonferroni-corrected post hoc analysis and multivariable binary logistic regression was used to determine significant case factors such as age, sex, concurrent multiple sclerosis (MS) and vaccine manufacturer in predicting a worse outcome defined as permanent disability, emergency room (ER) or doctor visits, and hospitalizations. RESULTS: A significant increase in the reporting rate of ON after COVID-19 vaccination compared with influenza vaccination and all other vaccinations (18.6 vs 0.2 vs 0.4 per 10 million, P < 0.0001) was observed. However, the reporting rate was within the incidence range of ON in the general population. Using self-controlled and case-centered analyses, there was a significant difference in the reporting rate of ON after COVID-19 vaccination between the risk period and control period ( P < 0.0001). Multivariable binary regression with adjustment for confounding variables demonstrated that only male sex was significantly associated with permanent disability. CONCLUSIONS: Some cases of ON may be temporally associated with the COVID-19 vaccines; however, there is no significant increase in the reporting rate compared with the incidence. Limitations of this study include those inherent to any passive surveillance system. Controlled studies are needed to establish a clear causal relationship.


Assuntos
Vacinas contra COVID-19 , COVID-19 , Neurite Óptica , Humanos , Masculino , Sistemas de Notificação de Reações Adversas a Medicamentos , COVID-19/epidemiologia , COVID-19/prevenção & controle , Vacinas contra COVID-19/efeitos adversos , Neurite Óptica/etiologia , Pandemias , Estados Unidos , Vacinação/efeitos adversos , Vacinas/efeitos adversos
11.
Front Pediatr ; 11: 1178919, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37187582

RESUMO

Background: JAK inhibitors are useful in treating interferonopathies, presumably because they downregulate the JAK/STAT signaling. There are limited studies about the safety and effectiveness of using JAK inhibitors in children with TREX1-related disorders. Case presentation: We report an 8-year-old female who presented at five years of age with features suggestive of hemophagocytic lymphohistiocytosis (HLH)-like disorder. The infectious disease workup was negative. Neurological assessment was normal. A brain CT scan was performed because of headache. It showed a faint subcortical calcification at right frontal lobe and almost symmetrical calcification within the basal ganglia. Brain MRI showed bilateral symmetrical globus pallidus, high T1 signal intensities, and a few scattered nonspecific FLAIR hyperintensities in subcortical and deep white matter. IVIG as an immune modulating agent was administered initially which led to the resolution of fever, improvement of blood count parameters, inflammatory markers, and normalization of liver enzymes. The child remained afebrile with no significant events for several months, then had disease flare up. The patient was started on pulse methylprednisolone 30 mg/kg for three days, then continued on 2 mg/kg. Whole exome sequencing revealed a novel heterozygous missense TREX1 mutation NM_016381.3:c.223G > A p.(Glu75Lys). The child was started on ruxolitinib, 5 mg orally twice daily. The child has prolonged, durable remission after initiating ruxolitinib with no adverse effects. Steroids were tapered off and the patient is no longer on IVIG. The patient is still on ruxolitinib for more than two years. Conclusion: This case highlights the potential role of ruxolitinib in the treatment of TREX1-related disorders. A longer follow-up period is required to evaluate the long-term outcome.

12.
Cureus ; 14(8): e28540, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36185913

RESUMO

Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neurodegenerative genetic disorder caused by mutations in the DCAF17 gene. It primarily manifests with endocrinological symptoms such as hypogonadism, failure to develop secondary sexual characteristics, diabetes, and hypotrichosis. Neurological manifestations include intellectual disabilities, dystonia, dysarthria, and hearing loss. This paper describes the cases of two Saudi Arabian sisters, aged 37 and 36, who were born to first-degree consanguineous parents. They had normal growth and development except for certain intellectual disabilities. However, they were presented with primary amenorrhea and no secondary sexual characteristics at puberty, and they were subsequently diagnosed with WSS. The first patient presented with dysmorphic features, dysarthria, tremors, and dystonia. The second patient presented with hypotrichosis, predominantly affecting the temporo-occipital regions, and cerebellar signs on physical exam. Both patients had hair thinning and bilateral sensorineural hearing loss. Brain MRI of both patients showed increased iron deposition in the basal ganglia and multiple faint T2-FLAIR (fluid-attenuated inversion recovery) hyperintensity foci involving the centrum semiovale, corona radiata, and peritrigonal white matter bilaterally. MRI abdomen of the second patient revealed early hepatic fibrosis, with diffuse moderate to severe hepatic steatosis reaching a fat fraction of 19%, and increased intensity of the splenic vein with multiple collaterals. Further research is needed to achieve a better understanding of this syndrome to improve patient care and outcomes.

13.
Lung Cancer ; 160: 92-98, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34482103

RESUMO

BACKGROUND: Nuclear protein transport is essential in guiding the traffic of important proteins and RNAs between the nucleus and cytoplasm. Export of proteins from the nucleus is mostly regulated by Exportin 1 (XPO1). In cancer, XPO1 is almost universally hyperactive and can promote the export of important tumor suppressors to the cytoplasm. Currently, there are no studies evaluating XPO1 amplifications and mutations in NSCLC and the impact on outcomes. METHODS: Tumor samples were analyzed using next-generation sequencing (NGS) (NextSeq, 592 Genes), immunohistochemistry (IHC), and whole transcriptome sequencing (WTS, NovaSeq) (Caris Life Sciences, Phoenix, AZ). Survival was extracted from insurance claims data and calculated from time of tissue collection to last contact using Kaplan-Meier estimate. RESULTS: Among 18,218 NSCLC tumors sequenced, 26 harbored XPO1 mutations and 24 had amplifications. XPO1 mutant tumors were more likely to have high TMB (79% vs. 52%, p = 0.007) and less likely to have high PD-L1 (32% vs. 68%, p = 0.03). KRAS co-mutations were seen in 19% (n = 5) and EGFR co-mutations were rare (n = 2). Among the 17,449 NSCLC tumors with clinical data, there were 24 XPO1 mutant. Comparison of survival between XPO1 mutant and WT showed a negative association with a hazard ratio (HR) of 1.932 (95% CI: 1.144-3.264 p = 0.012). XPO1 amplification was not associated with survival. CONCLUSIONS: XPO1 pathogenic mutations were associated with a poor survival in NSCLC. Although XPO1 mutations are rare in NSCLC, further studies to assess its associations with treatment responses are warranted.


Assuntos
Carcinoma Pulmonar de Células não Pequenas , Neoplasias Pulmonares , Carcinoma Pulmonar de Células não Pequenas/genética , Humanos , Carioferinas/genética , Neoplasias Pulmonares/genética , Mutação , Receptores Citoplasmáticos e Nucleares , Proteína Exportina 1
14.
Artigo em Inglês | MEDLINE | ID: mdl-34360161

RESUMO

This study was conducted to investigate medical students' lifestyle habits, including sleep quality, eating and drinking patterns, physical activity, and social status. Method: This research project is part two of a multi-institutional cross-sectional observational study conducted among medical students from six medical colleges in Saudi Arabia between September and December 2019. Results: 675 medical students were enrolled electively into the lifestyle study. About half of this number were male students and the majority were aged 18-24 years. Most students (87.6%) slept between 4-8 h a day and over 44% were dissatisfied with their sleep. Only 28.1% had three meals a day; about 40% of them usually or always skipped breakfast. A total of 44% usually or always ate fast food and 44.7% drank 2 L of water per day. Moreover, male students were significantly consuming more fast food than females, p < 0.001. The majority (63.3%) revealed they usually or always drink black coffee daily. Females were significantly more inclined to regular coffee consumption than males, p < 0.001. Only 4.3% exercised for 30 min or more daily. The majority (65%) of the students were introverted; they had few close friends. Yet, 81% were somewhat satisfied or satisfied with their social life. Male students were significantly more satisfied with their social life than females, p = 0.001. Only 4.6% smoked cigarettes daily whereas 7.1% smoked e-cigarettes daily. In contrast, only 0.3% used shisha (hookah) daily. Male medical students were substantially more inclined to e-cigarette use than females (p < 0.001). The top five leisure activities of a medical student were surfing social media (75.9%), watching movies (61.3%), hanging out with friends (58.1%), spending time with their family (55.4%), and browsing the Internet (53.6%). Female medical students were significantly more inclined to surf social media than male medical students, p = 0.022; also, watching movies was preferred for females compared to males, p = 0.006. Conclusion: This study revealed that the majority of these medical students in Saudi Arabia exhibited healthy lifestyles to some extent, and these health-promoting behaviors differed based on sex, especially concerning physical activity and eating patterns. The findings of this study provide relevant information for future actions that will be geared towards effectively decreasing the occurrence of chronic illnesses and improving future doctors' well-being.


Assuntos
Sistemas Eletrônicos de Liberação de Nicotina , Estudantes de Medicina , Adolescente , Estudos Transversais , Feminino , Humanos , Estilo de Vida , Masculino , Arábia Saudita/epidemiologia , Adulto Jovem
15.
Radiol Case Rep ; 16(7): 1840-1844, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34093929

RESUMO

Chordoma is a rare and aggressive intracranial bone tumor that is difficult to diagnose and resect with a peak incident between the ages of 20-40 years old and high recurrence rate when not completely resected. We present the case of clival chordoma in an 11-year-old female patient, who reported with a chronic right-sided headache, progressive loss of vision, hoarseness of voice, and slurred speech. Fluid-fluid level on fluid-attenuated inversion recovery magnetic resonance imaging sequence can be an atypical radiological sign for clival chordoma. Thumbing of the pons as well as extension of the chordoma to the sinonasal, intracranial, vertebral, intraspinal, and orbital regions were observed. The patient underwent partial resection of the tumor and discharge home after by the end of the third week after the surgery. Histopathology report confirmed the diagnosis of chordoma.

16.
Adv Med Educ Pract ; 12: 627-633, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34135654

RESUMO

BACKGROUND: Study habits have been the most significant indicator of academic performance and play a unique role in students' academic accomplishment. The study is aiming to determine the most common study habits of highly successful medical students and their relation to academic achievement. METHODS: A cross-sectional observational study was conducted from September to December 2019 among medical students of both gender from six medical colleges in Saudi Arabia. The students answered the standardized questionnaires to study the different learning habits among medical students, including learning prioritization, knowledge retention strategies, motivation, daily hours of studying, study learning resources. RESULTS: Six hundred and seventy-five medical students enrolled themselves electively into the study. The results showed a significant correlation between study habits and students' academic accomplishments. The top ten study habits of highly effective medical students are managing their time effectively, they get rid of interruptions (phone, family, friends) that disrupt their daily work, they use goal-setting to determine their most important activities, their daily study hours is ranging between 3 and 4 hours, they study alone for knowledge retention of medical information, learn from multiple sources and invest in technology with high efficiency, they contribute to the teaching of their peers, they study the main lecture slides with notes when no exam is coming, and they study lecture slides with notes and previous exam questions when preparing for upcoming exams; finally, they maintained motivation for self-gratification and fulfillment of their family dreams. CONCLUSION: This study's outcomes consolidate general study practices that can be credited to learning achievement and expand recognition to inspire less accomplished students by investigating and exploring factors that have enhanced and worked for many accomplished students.

17.
Radiol Case Rep ; 16(8): 2038-2042, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34158888

RESUMO

Costal osteochondroma is an uncommon primary benign tumor. Thorough radiological and pathological examinations should be performed to avoid misdiagnosis. Herein, we describe a case of a surgically resected costal osteochondroma in 23-year-old man. The aim of this report is the value of cartilage cap on imaging, leading to a correct preoperative impression. We also present a brief review of existing literature on costal osteochondroma.

18.
Int Med Case Rep J ; 14: 401-405, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34163257

RESUMO

Coronavirus disease 2019 (COVID-19) is a severe infectious respiratory disease caused by the novel coronavirus known as severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Multiple studies in the literature highlight the association between COVID-19 and stroke. We report a case of acute ischemic stroke in a COVID-19 patient without displaying symptoms of active COVID-19 infection or risk factors for stroke with further review of the literature. The patient's recovery was complicated by hemorrhagic stroke, which resulted in death. Acute ischemic strokes are one of the challenging complications of COVID-19 infection. Initial rapid assessment and management are crucial in optimizing the outcomes on these patients. Nevertheless, wearing appropriate PPE should be instituted while providing adequate care.

19.
Mol Genet Genomic Med ; 9(5): e1628, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33951325

RESUMO

PURPOSE: Stickler syndrome is a collagenopathy that is typically COL2A1-related (autosomal dominant) and less commonly related to other collagen gene mutations. Diagnosis is straightforward when a child has myopia or retinal detachment in the setting of classic diagnostic criteria such as hearing impairment, midfacial hypoplasia, and arthropathy. However, some children have primarily ocular disease with mild or no extraocular features. Such children can remain undiagnosed unless suspicion is raised by the ophthalmologist. METHODS: Retrospective consecutive case series (2014-2016) of children (<12 years old) suspected to have Stickler syndrome type collagenopathy by a single ophthalmologist and able to complete genetic testing for this possibility. Suspicion was based on vitreous abnormalities and myopia or lens opacities in the setting of prior retinal detachment, hearing impairment, or facial flatness. RESULTS: Average age of the 12 identified children was 8 years old (range 3-11; five boys). Average spherical equivalent for phakic eyes was -13 (range -3.5 to -30). Nine children had lens opacities or aphakia; two with aphakia also had lens subluxation or iridodonesis. Other recurrent clinical features included flat facies (12/12), hearing impairment (5/12), and prior retinal detachment (4/12). Pathogenic variants for collagenopathy were uncovered in 10/12 children: COL11A1 (heterozygous) in six, COL2A1 (heterozygous) in two, and COL9A1 (homozygous) in two. One child was homozygous for pathogenic variation in LRPAP1. One child had no detectable gene mutations. CONCLUSIONS: Taken together, these clinical features (particularly vitreous abnormality, myopia, and lens opacity) had a high molecular yield for collagen gene mutation. Ophthalmologists who see such children should suspect Stickler syndrome, even in the absence of overt systemic disease. COL11A1-related rather than COL2A1-related autosomal dominant disease may be more common when undiagnosed children are identified based on ocular examination. Biallelic mutations in LRPAP1 can result in a phenotype that may resemble Stickler syndrome.


Assuntos
Artrite/genética , Doenças do Tecido Conjuntivo/genética , Testes Genéticos , Perda Auditiva Neurossensorial/genética , Mutação , Fenótipo , Descolamento Retiniano/genética , Artrite/diagnóstico , Criança , Pré-Escolar , Colágeno Tipo II/genética , Colágeno Tipo IX/genética , Colágeno Tipo XI/genética , Doenças do Tecido Conjuntivo/diagnóstico , Olho/patologia , Feminino , Perda Auditiva Neurossensorial/diagnóstico , Heterozigoto , Humanos , Proteína Associada a Proteínas Relacionadas a Receptor de LDL/genética , Masculino , Descolamento Retiniano/diagnóstico
20.
J Clin Imaging Sci ; 10: 38, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32637229

RESUMO

Silent sinus syndrome (SSS) is the spontaneous unilateral collapse of the maxillary sinus and orbital floor with complete or partial opacification of the collapsed sinus. The key features in a patient who presents with SSS are painless progressive unilateral maxillary sinus disease in the absence of rhinosinusitis, trauma, or surgery. SSS is a rare disorder but could be under-diagnosed because of a lack of recognition. SSS is characterized by spontaneous and progressive enophthalmos ("sunken" eye-eye recession into the globe) and hypoglobus (globe displaced downward; and a drop in the pupillary level), so it is common for these patients to present first to an ophthalmologist. Although mostly observed in adults, there have been reports of SSS in children. SSS in younger individuals has characteristic clinical and radiologic signs with, in many cases, abnormal intranasal anatomic characteristics on the affected side. SSS should be differentiated from other causes of spontaneous enophthalmos, such as Parry-Romberg syndrome and linear scleroderma. The aim of this report was to alert the reader to the imaging findings in patients with SSS. This syndrome is well recognized by rhinologists and to a lesser extent to ophthalmologists but remains relatively unknown to general radiologists.

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