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Spontaneous isolated superior mesenteric artery dissection (SISMAD) is a rare cause of acute abdominal pain, but could potentially be fatal to patients, and should be recognized soon in the emergency department after excluding other common causes. Computed tomography (CT) is the modality of choice for initial diagnosis and follow-up. Currently there is no evidence-based guidelines for managing SISMAD. A 58-year-old man being suspected of a mesenteric artery dissection was referred to our emergergy department. The patient was monitored, treated conservatively with anticoagulant and discharged after 3 days. Follow-up CT scans at 6 month, 1 year and 1 year and a half post discharge showed a partially occluded false lumen, the diameter of true lumen had increased in size and no signs of bowel ischemia. SISMAD should be considered as part of differential diagnoses when patients in their fifth to seventh decades of life present with acute abdominal pain. Treatment includes conservative management, percutaneous endovascular interventions, or surgery, but most patients can be managed conservatively.
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Introduction Facial trauma can cause damage to the facial nerve, which can have negative effects on function, aesthetics, and quality of life if left untreated. Objective To evaluate the effectiveness of peripheral facial nerve direct end-to-end anastomosis and/or nerve grafting surgery for patients with facial nerve injury after facial trauma. Methods Fifty-nine patients with peripheral facial nerve paralysis after facial injuries underwent facial nerve rehabilitation surgery from November 2017 to December 2021 at Ho Chi Minh City National Hospital of Odontology. Results All 59 cases of facial trauma with damage to the peripheral facial nerve underwent facial nerve reconstruction surgery within 8 weeks of the injury. Of these cases, 25/59 (42.3%) had end-to-end anastomosis, 22/59 (37.3%) had nerve grafting, and 12/59 (20.4%) had a combination of nerve grafting and end-to-end anastomosis. After surgery, the rates of moderate and good recovery were 78.4% and 11.8%, respectively. All facial paralysis measurements showed statistically significant improvement after surgery, including the Facial Nerve Grading Scale 2.0 (FNGS 2.0) score, the Facial Clinimetric Evaluation (FaCE) scale, and electroneurography. The rate of synkinesis after surgery was 34%. Patient follow-up postoperatively ranged from 6 to > 36 months; 51 out of 59 patients (86.4%) were followed-up for at least 12 months or longer. Conclusion Nerve rehabilitation surgery including direct end-to-end anastomosis and nerve grafting is effective in cases of peripheral facial nerve injury following facial trauma. The surgery helps restore nerve conduction and improve facial paralysis.
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Background: Rhinoplasty in patients with previous unilateral cleft lip repair is a surgical challenge due to complex nasal deformities, including a horizontally positioned nasal wing, wide cleft side nostrils, nasal base defects, and a short and deviated nasal columella. To comprehensively address these complexities, we exclusively utilized autologous costal cartilage in rhinoplasty procedures, using various surgical techniques. Methods: This study presents a comprehensive case series of 39 patients who had previously undergone unilateral cleft lip surgery but still had nasal deformities. Rhinoplasty using autologous costal cartilage was performed at Cho Ray Hospital, Vietnam. Costal cartilage was partially crushed and then finely cut to shape the dorsal area and raise the nasal base on the cleft side. Partially crushed cartilage was also used to shape shield grafts, cap grafts, and alar batten grafts, whereas sliced cartilage was utilized for septal extension grafts. Evaluation was based on improvements in anthropometric indicators, patient satisfaction using Rhinoplasty Outcome Evaluation (ROE) scale and FACE-Q scores. Results: The average age of patients was 25.13 years. All postoperative anthropometric indicators showed significant improvements. Postsurgery, the total ROE score was three times higher than before surgery (P < 0.001), and the total FACE-Q score was 2.26 times higher (P < 0.001). No significant intraoperative or postoperative complications were observed. Conclusions: This procedure effectively addresses complex nasal deformities in patients with prior unilateral cleft lip repair, emphasizing the value of autologous costal cartilage in rhinoplasty for such individuals.
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RNA polymerase III-related leukodystrophy (POLR3-related leukodystrophy) is a rare, genetically determined hypomyelinating disease arising from biallelic pathogenic variants in genes encoding subunits of RNA polymerase III (Pol III). Here, we describe the first reported case of POLR3-related leukodystrophy caused by biallelic pathogenic variants in POLR3D, encoding the RPC4 subunit of Pol III. The individual, a female, demonstrated delays in walking and expressive and receptive language as a child and later cognitively plateaued. Additional neurological features included cerebellar signs (e.g., dysarthria, ataxia, and intention tremor) and dysphagia, while non-neurological features included hypodontia, hypogonadotropic hypogonadism, and dysmorphic facial features. Her MRI was notable for diffuse hypomyelination with myelin preservation of early myelinating structures, characteristic of POLR3-related leukodystrophy. Exome sequencing revealed the biallelic variants in POLR3D, a missense variant (c.541C > T, p.P181S) and an intronic splice site variant (c.656-6G > A, p.?). Functional studies of the patient's fibroblasts demonstrated significantly decreased RNA-level expression of POLR3D, along with reduced expression of other Pol III subunit genes. Notably, Pol III transcription was also shown to be aberrant, with a significant decrease in 7SK RNA and several distinct tRNA genes analyzed. Affinity purification coupled to mass spectrometry of the POLR3D p.P181S variant showed normal assembly of Pol III subunits yet altered interaction of Pol III with the PAQosome chaperone complex, indicating the missense variant is likely to alter complex maturation. This work identifies biallelic pathogenic variants in POLR3D as a novel genetic cause of POLR3-related leukodystrophy, expanding the molecular spectrum associated with this disease, and proposes altered tRNA homeostasis as a factor in the underlying biology of this hypomyelinating disorder.
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Microgravity-induced bone loss results in a 1% bone mineral density loss monthly and can be a mission critical factor in long-duration spaceflight. Biomolecular therapies with dual osteogenic and anti-resorptive functions are promising for treating extreme osteoporosis. We previously confirmed that NELL-like molecule-1 (NELL-1) is crucial for bone density maintenance. We further PEGylated NELL-1 (NELL-polyethylene glycol, or NELL-PEG) to increase systemic delivery half-life from 5.5 to 15.5 h. In this study, we used a bio-inert bisphosphonate (BP) moiety to chemically engineer NELL-PEG into BP-NELL-PEG and specifically target bone tissues. We found conjugation with BP improved hydroxyapatite (HA) binding and protein stability of NELL-PEG while preserving NELL-1's osteogenicity in vitro. Furthermore, BP-NELL-PEG showed superior in vivo bone specificity without observable pathology in liver, spleen, lungs, brain, heart, muscles, or ovaries of mice. Finally, we tested BP-NELL-PEG through spaceflight exposure onboard the International Space Station (ISS) at maximal animal capacity (n = 40) in a long-term (9 week) osteoporosis therapeutic study and found that BP-NELL-PEG significantly increased bone formation in flight and ground control mice without obvious adverse health effects. Our results highlight BP-NELL-PEG as a promising therapeutic to mitigate extreme bone loss from long-duration microgravity exposure and musculoskeletal degeneration on Earth, especially when resistance training is not possible due to incapacity (e.g., bone fracture, stroke).
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BACKGROUND: Biallelic pathogenic variants in SLC17A5 cause three forms of free sialic acid storage disease categorized based on severity from least to most severe: Salla disease, intermediate-severe Salla disease, and infantile free sialic acid storage disease. Intermediate-severe Salla disease is the most recently described form. Here, we report a longitudinal characterization of intermediate-severe Salla disease progression in two sisters carrying the following biallelic variants in SLC17A5: c.406A>G (p.Lys136Glu) and c.819+1G>A. METHODS: A retrospective review of medical records was performed. A developmental questionnaire was completed to obtain further clinical information. For functional characterization of the predicted splice site variant, RNA was extracted from patient blood samples and sequenced. RESULTS: Disease onset occurred within the first six months of life in both patients. Early childhood development was delayed with achievement of some milestones followed by a developmental plateau in late childhood. After this, both patients began a slow and progressive neurological regression in adolescence. Functional studies confirmed the pathogenicity of the c.819+1G>A variant, resulting in a frameshift and deletion of exon 6. CONCLUSIONS: We present a detailed study describing the clinical course of intermediate-severe Salla disease with over 15 to 20 years of evolution and demonstrate the pathogenicity of the c.819+1G>A splice site variant.
Subject(s)
Sialic Acid Storage Disease , Adolescent , Humans , Child , Child, Preschool , Sialic Acid Storage Disease/genetics , Mutation/genetics , N-Acetylneuraminic Acid , Disease ProgressionABSTRACT
BACKGROUND: Neurodegeneration due to cerebral folate transport deficiency is a rare autosomal recessive disorder caused by biallelic pathogenic variants in FOLR1. Onset typically occurs in late infancy and is characterized by psychomotor regression, epilepsy, and a hypomyelinating leukodystrophy on magnetic resonance imaging. If left untreated, progressive neurodegeneration occurs. However, early treatment with folinic acid has been shown to stabilize or reverse neurological features. Approximately thirty patients have been described worldwide. Here, we report the first two cases with genetically proven cerebral folate transport deficiency from South-Eastern Europe, describe the effect of oral folinic acid therapy on clinical and neuroradiological features and review the literature. RESULTS: Two siblings presented in childhood with clinical and radiological findings consistent with a hypomyelinating leukodystrophy. Exome sequencing revealed a novel homozygous pathogenic variant in FOLR1 (c.465_466delinsTG; p.W156G), confirming the diagnosis of neurodegeneration due to cerebral folate transport deficiency. Folinic acid treatment was promptly initiated in both patients. The younger sibling was treated early in disease course at 2 years of age, and demonstrated complete recovery in clinical and MRI features. The older sibling, who was 8 years of age at the time of diagnosis and treatment, demonstrated partial but substantial improvements. CONCLUSION: We present the first account in the literature that early treatment initiation with oral folinic acid alone can result in complete neurological recovery of both clinical and radiological abnormalities in neurodegeneration due to cerebral folate deficiency. Moreover, through the report of these patients along with review of the literature, we provide information about the natural history of the disease with comparison of treatment effects at different stages of disease progression. This report also reinforces the importance of universal access to genetic testing to ensure prompt diagnoses for treatable disorders.
Subject(s)
Epilepsy , Folic Acid Deficiency , Neuroaxonal Dystrophies , Humans , Leucovorin/therapeutic use , Folic Acid Deficiency/diagnosis , Folic Acid Deficiency/drug therapy , Folic Acid Deficiency/genetics , Epilepsy/genetics , Folate Receptor 1/genetics , Folate Receptor 1/therapeutic useABSTRACT
Mindfulness is an intervention that was used in many psychiatry treatments. In this study, the subject experienced two different states: (1) attention (i.e., listening to a podcast) and (2) mindfulness (i.e., meditation). Twenty-two students were included in a Mindfulness-Based Stress Reduction (MBSR) course with EEG recording sessions on week four and week six. Brain dynamics were investigated to elucidate the complexity and connectivity of the brain. The alpha PSD increased in all brain areas during mindfulness in both weeks. For complexity, Fractal Dimension (FD) increased significantly during meditation in the week six recording. When comparing the FD in the mindfulness state of week four and week six, we also witnessed a significant increase in the following week. The coherence of the interhemispheric frontal and temporal regions increased significantly in both weeks. In conclusion, the subject successfully transferred from attention to mindfulness, demonstrated by the alpha changes when going from podcast to meditating. An enhancement in brain complexity was found, suggesting an augmentation in cognitive function. Finally, the coherence exhibits strengthened connections in the frontal area.
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BACKGROUND: RNA polymerase III-related or 4H leukodystrophy (POLR3-HLD) is an autosomal recessive hypomyelinating leukodystrophy characterized by neurological dysfunction, hypodontia and hypogonadotropic hypogonadism. The disease is caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C or POLR3K. Craniofacial abnormalities reminiscent of Treacher Collins syndrome have been originally described in patients with POLR3-HLD caused by biallelic pathogenic variants in POLR1C. To date, no published studies have appraised in detail the craniofacial features of patients with POLR3-HLD. In this work, the specific craniofacial characteristics of patients with POLR3-HLD associated with biallelic pathogenic variants in POLR3A, POLR3B and POLR1C are described. METHODS: The craniofacial features of 31 patients with POLR3-HLD were evaluated, and potential genotype-phenotype associations were evaluated. RESULTS: Various craniofacial abnormalities were recognized in this patient cohort, with each individual presenting at least one craniofacial abnormality. The most frequently identified features included a flat midface (61.3%), a smooth philtrum (58.0%) and a pointed chin (51.6%). In patients with POLR3B biallelic variants, a thin upper lip was frequent. Craniofacial anomalies involving the forehead were most commonly associated with biallelic variants in POLR3A and POLR3B while a higher proportion of patients with POLR1C biallelic variants demonstrated bitemporal narrowing. CONCLUSION: Through this study, we demonstrated that craniofacial abnormalities are common in patients with POLR3-HLD. This report describes in detail the dysmorphic features of POLR3-HLD associated with biallelic variants in POLR3A, POLR3B and POLR1C.
Subject(s)
Demyelinating Diseases , Neurodegenerative Diseases , Humans , RNA Polymerase III/genetics , Inheritance Patterns , DNA-Directed RNA Polymerases/geneticsABSTRACT
Parents of children with genetically determined leukoencephalopathies play a major role in their children's health care. We sought to gain a better understanding of their experience with the public health care system in Quebec, Canada, to obtain suggestions for improving their services, and to identify modifiable factors to improve their quality of life. We conducted interviews with 13 parents. Data was analyzed thematically. Five themes were identified: challenges of the diagnostic odyssey, limited access to services, excessive parental responsibilities, positive relationships with health care professionals as a facilitator of care, and benefits of a specialized leukodystrophy clinic. Parents felt like waiting for the diagnosis was extremely stressful, and they expressed their need for transparency during this period. They identified multiple gaps and barriers in the health care system, which burdened them with many responsibilities. Parents emphasized the importance of a positive relationship with their child's health care professionals. They also felt grateful for being followed at a specialized clinic as it improved the quality of care received.
Subject(s)
Parents , Quality of Life , Child , Humans , Delivery of Health Care , Canada , QuebecABSTRACT
Introduction: Rare neurodevelopmental disorders, including inherited white matter disorders or leukodystrophies, often present a diagnostic challenge on a genetic level given the large number of causal genes associated with a range of disease subtypes. This study aims to demonstrate the challenges and lessons learned in the genetic investigations of leukodystrophies through presentation of a series of cases solved using exome or genome sequencing. Methods: Each of the six patients had a leukodystrophy associated with hypomyelination or delayed myelination on MRI, and inconclusive clinical diagnostic genetic testing results. We performed next generation sequencing (case-based exome or genome sequencing) to further investigate the genetic cause of disease. Results: Following different lines of investigation, molecular diagnoses were obtained for each case, with patients harboring pathogenic variants in a range of genes including TMEM106B, GJA1, AGA, POLR3A, and TUBB4A. We describe the lessons learned in reaching the genetic diagnosis, including the importance of (a) utilizing proper multi-gene panels in clinical testing, (b) assessing the reliability of biochemical assays in supporting diagnoses, and (c) understanding the limitations of exome sequencing methods in regard to CNV detection and region coverage in GC-rich areas. Discussion: This study illustrates the importance of applying a collaborative diagnostic approach by combining detailed phenotyping data and metabolic results from the clinical environment with advanced next generation sequencing analysis techniques from the research environment to increase the diagnostic yield in patients with genetically unresolved leukodystrophies.
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Understanding the axis of the human microbiome and physiological homeostasis is an essential task in managing deep-space-travel-associated health risks. The NASA-led Rodent Research 5 mission enabled an ancillary investigation of the gut microbiome, varying exposure to microgravity (flight) relative to ground controls in the context of previously shown bone mineral density (BMD) loss that was observed in these flight groups. We demonstrate elevated abundance of Lactobacillus murinus and Dorea sp. during microgravity exposure relative to ground control through whole-genome sequencing and 16S rRNA analyses. Specific functionally assigned gene clusters of L. murinus and Dorea sp. capable of producing metabolites, lactic acid, leucine/isoleucine, and glutathione are enriched. These metabolites are elevated in the microgravity-exposed host serum as shown by liquid chromatography-tandem mass spectrometry (LC-MS/MS) metabolomic analysis. Along with BMD loss, ELISA reveals increases in osteocalcin and reductions in tartrate-resistant acid phosphatase 5b signifying additional loss of bone homeostasis in flight.
Subject(s)
Gastrointestinal Microbiome , Space Flight , Humans , RNA, Ribosomal, 16S/genetics , Chromatography, Liquid , Travel , Tandem Mass SpectrometryABSTRACT
PURPOSES: The purpose of this study was to present and analyze the etiologic factors, clinical manifestations, bacteriology, and treatment outcomes of nasal septal abscess in a large cohort of adult patients. MATERIAL AND METHODS: Retrospective analysis. RESULTS: 36 adult patients, age from 19 to 85 (mean age, 51.83), with nasal septal abscesses were treated at Ear Nose Throat Hospital of Ho Chi Minh City from January 2020 to August 2022. The most common symptoms were nasal obstruction (75 %), headache/facial pain (58.33 %). Etiologic factors were found in 83.33 % of cases with the most common were diabetes mellitus (47.22 %), nose-picking (44.44 %). 75 % of cases had positive bacterial culture, of which 70.37 % were Staphylococcus aureus. Septal abscess was successfully treated in all cases using our treatment protocol, which involved an extended modified Killian's incision, irrigation with 1 % poviodine, placement of gauze in the abscess pocket, and nasal packing with Merocels. CONCLUSIONS: Diabetes and nose-picking were the most common etiologic factors; Staphylococcus aureus was the most common organism of nasal septal abscess in our study. Our treatment protocol is safe and effective.
Subject(s)
Diabetes Mellitus , Nasal Obstruction , Paranasal Sinus Diseases , Pharyngeal Diseases , Respiratory Tract Infections , Staphylococcal Infections , Humans , Adult , Middle Aged , Nasal Septum , Abscess/etiology , Abscess/therapy , Abscess/diagnosis , Retrospective Studies , Nasal Obstruction/complications , Paranasal Sinus Diseases/complications , Staphylococcus aureus , Respiratory Tract Infections/complications , Cellulitis , Staphylococcal Infections/therapy , Staphylococcal Infections/complications , Pharyngeal Diseases/complicationsABSTRACT
Cockayne syndrome is a rare inherited DNA repair multisystemic disorder. Here, we aim to raise awareness of the phenotypic resemblances between Cockayne syndrome and the neurodevelopmental disorder caused by pathogenic variants in MORC2, a gene also involved in DNA repair. Using exome sequencing, we identified a de novo pathogenic variant in MORC2 in our patient. Our patient's phenotype was characterized by multiple features evocative of Cockayne syndrome. Based on our patient's phenotype, in addition to the phenotypic description of patients with pathogenic variants in MORC2 reported in the literature, we suggest that pathogenic variants in this gene are associated with a Cockayne-like phenotype.
Subject(s)
Cockayne Syndrome , Neurodevelopmental Disorders , Humans , Cockayne Syndrome/genetics , Phenotype , Neurodevelopmental Disorders/genetics , Exome Sequencing , Transcription Factors/geneticsABSTRACT
Financial constraints usually hinder students, especially those in low-middle income countries (LMICs), from seeking mental health interventions. Hence, it is necessary to identify effective, affordable and sustainable counter-stress measures for college students in the LMICs context. This study examines the sustained effects of mindfulness practice on the psychological outcomes and brain activity of students, especially when they are exposed to stressful situations. Here, we combined psychological and electrophysiological methods (EEG) to investigate the sustained effects of an 8-week-long standardized Mindfulness-Based Stress Reduction (MBSR) intervention on the brain activity of college students. We found that the Test group showed a decrease in negative emotional states after the intervention, compared to the no statistically significant result of the Control group, as indicated by the Perceived Stress Scale (PSS) (33% reduction in the negative score) and Depression, Anxiety, Stress Scale (DASS-42) scores (nearly 40% reduction of three subscale scores). Spectral analysis of EEG data showed that this intervention is longitudinally associated with increased frontal and occipital lobe alpha band power. Additionally, the increase in alpha power is more prevalent when the Test group was being stress-induced by cognitive tasks, suggesting that practicing MBSR might enhance the practitioners' tolerance of negative emotional states. In conclusion, MBSR intervention led to a sustained reduction of negative emotional states as measured by both psychological and electrophysiological metrics, which supports the adoption of MBSR as an effective and sustainable stress-countering approach for students in LMICs.
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BACKGROUND: Coronavirus-like particles (CoVLP) that are produced in plants and display the prefusion spike glycoprotein of the original strain of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are combined with an adjuvant (Adjuvant System 03 [AS03]) to form the candidate vaccine. METHODS: In this phase 3, multinational, randomized, placebo-controlled trial conducted at 85 centers, we assigned adults (≥18 years of age) in a 1:1 ratio to receive two intramuscular injections of the CoVLP+AS03 vaccine or placebo 21 days apart. The primary objective of the trial was to determine the efficacy of the CoVLP+AS03 vaccine in preventing symptomatic coronavirus disease 2019 (Covid-19) beginning at least 7 days after the second injection, with the analysis performed after the detection of at least 160 cases. RESULTS: A total of 24,141 volunteers participated in the trial; the median age of the participants was 29 years. Covid-19 was confirmed by polymerase-chain-reaction assay in 165 participants in the intention-to-treat population; all viral samples that could be sequenced contained variants of the original strain. Vaccine efficacy was 69.5% (95% confidence interval [CI], 56.7 to 78.8) against any symptomatic Covid-19 caused by five variants that were identified by sequencing. In a post hoc analysis, vaccine efficacy was 78.8% (95% CI, 55.8 to 90.8) against moderate-to-severe disease and 74.0% (95% CI, 62.1 to 82.5) among the participants who were seronegative at baseline. No severe cases of Covid-19 occurred in the vaccine group, in which the median viral load for breakthrough cases was lower than that in the placebo group by a factor of more than 100. Solicited adverse events were mostly mild or moderate and transient and were more frequent in the vaccine group than in the placebo group; local adverse events occurred in 92.3% and 45.5% of participants, respectively, and systemic adverse events in 87.3% and 65.0%. The incidence of unsolicited adverse events was similar in the two groups up to 21 days after each dose (22.7% and 20.4%) and from day 43 through day 201 (4.2% and 4.0%). CONCLUSIONS: The CoVLP+AS03 vaccine was effective in preventing Covid-19 caused by a spectrum of variants, with efficacy ranging from 69.5% against symptomatic infection to 78.8% against moderate-to-severe disease. (Funded by Medicago; ClinicalTrials.gov number, NCT04636697.).
Subject(s)
Adjuvants, Vaccine , COVID-19 Vaccines , COVID-19 , Adjuvants, Immunologic/administration & dosage , Adjuvants, Immunologic/adverse effects , Adjuvants, Immunologic/therapeutic use , Adjuvants, Vaccine/administration & dosage , Adjuvants, Vaccine/adverse effects , Adjuvants, Vaccine/therapeutic use , Adult , Antibodies, Viral , COVID-19/genetics , COVID-19/prevention & control , COVID-19/virology , COVID-19 Vaccines/administration & dosage , COVID-19 Vaccines/adverse effects , COVID-19 Vaccines/therapeutic use , Double-Blind Method , Humans , Injections, Intramuscular , SARS-CoV-2/genetics , VaccinationABSTRACT
INTRODUCTION: Increased telemedicine implementation may promote primary care access. However, gaps in telemedicine uptake may perpetuate existing disparities in primary care access. This study assessed provider- and patient-level factors associated with telemedicine use in community-based family practice clinics. METHODS: This retrospective study used electronic medical records data from a large Federally Qualified Health Center. A 3-level mixed-effects logistic regression model explored predictors of telemedicine use, with provider and patient as random effects. RESULTS: The analytic sample included 37,428 unique patients with 106,567 primary care encounters with 42 family medicine providers. Fifty-seven percent of the sample identified as Hispanic, 28% non-Hispanic White, and 11% non-Hispanic Black. Compared to Hispanics, non-Hispanic White patients had 61% higher odds of a telemedicine visit, and non-Hispanic Black patients had 32% higher odds of a telemedicine visit. The odds of telemedicine use were lower for those who were uninsured. Those residing in metropolitan areas or medically underserved areas had greater odds of a telemedicine appointment. Commute time exhibited a dose-response relationship with telemedicine use. Provider characteristics were not significantly associated with telemedicine use. DISCUSSION: While provider characteristics were not associated with telemedicine use, greater focus on patient characteristics specific to the population served is necessary.
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Family Practice , Telemedicine , Ambulatory Care Facilities , Humans , Retrospective StudiesABSTRACT
BACKGROUND: Surgical treatment for posterior ethmoid diseases has historically been performed through a trans-ethmoid approach which usually required medialization of the middle turbinate, a middle meatal antrostomy and total ethmoidectomy. This can destabilize the basal lamella of the middle turbinate and also sacrifices the integrity of ostiomeatal complex and the healthy bulla if the patient has the disease only in the posterior ethmoid sinus. The aim of this study is to present of a novel minimally disruptive approach for the management of isolated posterior ethmoid diseases. METHODS: Retrospective case series analysis. RESULTS: 19 patients with isolated posterior ethmoid fungal balls were operated on via a trans-superior meatal approach. The most common signs and symptoms were headache (78.9%), and purulent/mucoid discharge from the superior meatus (89.5%). The technique is described in detail with the preservation of the ostiomeatal complex and bulla ethmoidalis. Complete removal of the disease was achieved in all cases through this access, with no intra-operative complications. The posterior ethmoid cavity remained patent postoperatively in all patients. No recurrence was noted during the follow-up period which ranged from 6 to 12 months. CONCLUSION: This is a minimally invasive approach, which is safe and effective for the surgical management of isolated posterior ethmoid diseases.
Subject(s)
Blister , Paranasal Sinuses , Endoscopy/methods , Ethmoid Bone/surgery , Ethmoid Sinus/surgery , Humans , Retrospective StudiesSubject(s)
Eye Abnormalities , Foot Deformities, Congenital , Syndactyly , Tooth Abnormalities , Adult , Craniofacial Abnormalities , Eye Abnormalities/complications , Eye Abnormalities/diagnostic imaging , Eye Abnormalities/genetics , Humans , Syndactyly/complications , Syndactyly/diagnostic imaging , Syndactyly/genetics , Tooth Abnormalities/diagnostic imaging , Tooth Abnormalities/geneticsABSTRACT
Parents of children with genetically determined leukoencephalopathies play a major role in their children's health care. Because of the COVID-19 pandemic, many health care services were suspended, delayed or delivered remotely with telemedicine. We sought to explore the experience of parents of children with genetically determined leukoencephalopathies during the pandemic given the adapted health care services. We conducted semistructured interviews with 13 parents of 13 affected children. Three main themes were identified using thematic analysis: perceived impact of COVID-19 on health care services, benefits and challenges of telemedicine, and expectations of health care after the pandemic. Parents perceived a loss/delay in health care services while having a positive response to telemedicine. Parents wished telemedicine would remain in their care after the pandemic. This is the first study assessing the impact of COVID-19 on health care services in this population. Our results suggest that parents experience a higher level of stress owing to the shortage of services and the children's vulnerability.