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1.
Surg Radiol Anat ; 46(7): 1057-1062, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38717501

RESUMO

BACKGROUND: Koerner's septum (KS) is a bony plate located at the junction of the petrous and squamous parts of the temporal bone. The reported prevalence of KS varied between studies. KS variations are associated with various pathologies and pose difficulties during surgeries. The study aims to determine the KS frequency in Omani patients and analyze its association with sex and side. METHODS: The present study investigated the KS topography in 344 computed tomography (CT) scans of normal temporal bones of adult Omani patients at Sultan Qaboos University Hospital. The presence of KS and its parts (complete or incomplete), as well as its thickness at three anatomical landmarks were recorded. Additionally, sex and laterality differences in KS parameters were analyzed using a Chi-square test. RESULTS: The overall frequency of KS among Omani subjects was 39.5%. The complete KS was observed only in 14% of cases. The thickness of KS was 0.78 ± 0.21 mm, 0.93 ± 0.28 mm and 0.78 ± 0.21 mm at the head of the malleus (HM), the superior semicircular canal (SSC) and the tympanic sinus (TS), respectively (p < 0.01). KS was present most constantly at the level of HM (64.7%), followed by SSC (57.4%), and less constantly at the level of TS (49.3%). KS frequency was similar in both males than females (41.9% vs 37.3%), with statistically insignificant difference (p = 0.38). No side differences were observed concerning KS frequency (p = 0.955). CONCLUSION: The KS frequency in Omani subjects within the range of previously reported studies. It is incomplete in most of the cases and constantly present at the level of HM. Its thickness is more at the level of SSC.


Assuntos
Variação Anatômica , Osso Temporal , Tomografia Computadorizada por Raios X , Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Omã , Osso Temporal/diagnóstico por imagem , Osso Temporal/anatomia & histologia , Idoso , Adulto Jovem , Fatores Sexuais , Adolescente , Pontos de Referência Anatômicos
2.
Surg Radiol Anat ; 46(3): 263-270, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38280004

RESUMO

BACKGROUND: The parietal foramen (PF) of the skull is a variable anatomic feature with important implications for venous drainage, infection, and injury. Its topography is clinically relevant for neurosurgeons for intracranial navigation and preoperative planning. METHODS: PF topography was investigated in a series of 440 head computed-tomography scans of Omani subjects at Sultan Qaboos University Hospital. The mean age of the patients was 52 ± 17 years and there were 160 males and 280 females. The topography features of the PF, including frequency, diameter, patency, and relative position in relation to the superior sagittal sinus (SSS), were recorded. Additionally, sex and laterality differences in PF parameters were analyzed using a Chi-square test. RESULTS: The overall prevalence of PF was 72.3% (318/440). The bilateral presence of PF was identified in 34% of skulls. Unilateral right-side prevalence was 18.2%, while left prevalence was 13.2% (p = 0.62). The prevalence of unilateral accessory PF on the right side was 1.8%, while it was 1.1% on the left (p = 0.69). PF within the sagittal suture/or intra-sutural PF was observed in 6.8% of skulls, with a frequency of 9.4% in men and 5.4% in women (p = 0.29). The diameter of the PF was 1.45 ± 0.74 mm on the right side, and 1.54 ± 0.99 mm on the left side (p = 0.96). There were 2% of incomplete PF. The PF was located over the SSS in 70.3% on the right side and 53.8% on the left side. No significant differences were observed between the PF topography parameters and sex or laterality. CONCLUSION: The present study for the first time reports the baseline data of PF topography in a large sample of CT scans in the Arab population. The geography and race influence the PF topography differences. PF may be used as a reliable landmark of SSS. The morphological characteristics and distribution of PF reported in this study have clinical implications for imaging diagnosis, intracranial navigation of vascular disorders, and treatment.


Assuntos
Osso Esfenoide , Tomografia Computadorizada por Raios X , Masculino , Adulto , Humanos , Feminino , Pessoa de Meia-Idade , Idoso , Estudos Retrospectivos , Seio Sagital Superior , Cabeça
3.
J Inherit Metab Dis ; 45(2): 292-307, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35023579

RESUMO

SUPV3L1 encodes a helicase that is mainly localized in the mitochondria. It has been shown in vitro to possess both double-stranded RNA and DNA unwinding activity that is ATP-dependent. Here we report the first two patients for this gene who presented with a homozygous preliminary stop codon resulting in a C-terminal truncation of the SUPV3L1 protein. They presented with a characteristic phenotype of neurodegenerative nature with progressive spastic paraparesis, growth restriction, hypopigmentation, and predisposition to autoimmune disease. Ophthalmological examination showed severe photophobia with corneal erosions, optic atrophy, and pigmentary retinopathy, while neuroimaging showed atrophy of the optic chiasm and the pons with calcification of putamina, with intermittent and mild elevation of lactate. We show that the amino acids that are eliminated by the preliminary stop codon are highly conserved and are predicted to form an amphipathic helix. To investigate if the mutation causes mitochondrial dysfunction, we examined fibroblasts of the proband. We observed very low expression of the truncated protein, a reduction in the mature ND6 mRNA species as well as the accumulation of double-stranded RNA. Lentiviral complementation with the full-length SUPV3L1 cDNA partly restored the observed RNA phenotypes, supporting that the SUPV3L1 mutation in these patients is pathogenic and the cause of the disease.


Assuntos
RNA Helicases DEAD-box/genética , RNA de Cadeia Dupla , Irmãos , Códon de Terminação , DNA Mitocondrial/genética , Humanos , Mutação , RNA Mitocondrial
4.
Surg Radiol Anat ; 44(10): 1361-1366, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36190533

RESUMO

INTRODUCTION: Cervical ribs are the supernumerary ribs that usually arise from the seventh cervical vertebra. Ethnic and geographical variations in cervical ribs and elongated transverse processes have been reported. Therefore, we aimed to study the prevalence of cervical ribs and elongated transverse processes and morphometry of cervical ribs in Omani subjects using computed tomography (CT). METHODS: A total of 1165 consecutive patients' CT scans of the cervical spine who had visited the tertiary care hospital from January 2016 to December 2020 were included in the study. The CT scans were screened for cervical ribs and elongated C7 transverse processes. Fisher's exact test was used to determine the gender influence. RESULTS: Cervical ribs were identified in 0.94% of patients with a male-to-female ratio of 0.37:1. Most cervical ribs were unilateral (54%). The elongated C7 transverse process was identified in 18.45% of patients, with a male-to-female ratio of 1.36:1. Female patients are more likely to have cervical ribs (effect size = 5.98, 95% CI = 1.58-22.6, p = 0.005) than male patients. In contrast, the elongated C7 transverse process is more frequent in males (effect size = 1.82, 95% CI = 1.34-2.47, p < 0.001). The length and width of the cervical ribs are presented. CONCLUSION: The prevalence of cervical ribs in Omani subjects is close to that of accepted prevalence worldwide. However, the elongated C7 transverse process prevalence is comparatively high and close to the Saudi population.


Assuntos
Costela Cervical , Humanos , Masculino , Feminino , Costela Cervical/diagnóstico por imagem , Corpo Vertebral , Prevalência , Vértebras Cervicais/diagnóstico por imagem , Tomografia Computadorizada por Raios X
5.
Eur Radiol ; 28(6): 2604-2611, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29294157

RESUMO

OBJECTIVE: There is a rich amount of quantitative information in spectral datasets generated from dual-energy CT (DECT). In this study, we compare the performance of texture analysis performed on multi-energy datasets to that of virtual monochromatic images (VMIs) at 65 keV only, using classification of the two most common benign parotid neoplasms as a testing paradigm. METHODS: Forty-two patients with pathologically proven Warthin tumour (n = 25) or pleomorphic adenoma (n = 17) were evaluated. Texture analysis was performed on VMIs ranging from 40 to 140 keV in 5-keV increments (multi-energy analysis) or 65-keV VMIs only, which is typically considered equivalent to single-energy CT. Random forest (RF) models were constructed for outcome prediction using separate randomly selected training and testing sets or the entire patient set. RESULTS: Using multi-energy texture analysis, tumour classification in the independent testing set had accuracy, sensitivity, specificity, positive predictive value, and negative predictive value of 92%, 86%, 100%, 100%, and 83%, compared to 75%, 57%, 100%, 100%, and 63%, respectively, for single-energy analysis. CONCLUSIONS: Multi-energy texture analysis demonstrates superior performance compared to single-energy texture analysis of VMIs at 65 keV for classification of benign parotid tumours. KEY POINTS: • We present and validate a paradigm for texture analysis of DECT scans. • Multi-energy dataset texture analysis is superior to single-energy dataset texture analysis. • DECT texture analysis has high accura\cy for diagnosis of benign parotid tumours. • DECT texture analysis with machine learning can enhance non-invasive diagnostic tumour evaluation.


Assuntos
Adenolinfoma/patologia , Adenoma Pleomorfo/patologia , Neoplasias Parotídeas/patologia , Adenolinfoma/diagnóstico por imagem , Adenoma Pleomorfo/diagnóstico por imagem , Feminino , Humanos , Aprendizado de Máquina , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada Multidetectores/métodos , Neoplasias Parotídeas/diagnóstico por imagem , Imagem Radiográfica a Partir de Emissão de Duplo Fóton/métodos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
6.
JIMD Rep ; 65(4): 212-225, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38974613

RESUMO

Background: NAXE-encephalopathy or early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL-1) and NAXD-encephalopathy (PEBEL-2) have been described recently as mitochondrial disorders causing psychomotor regression, hypotonia, ataxia, quadriparesis, ophthalmoparesis, respiratory insufficiency, encephalopathy, and seizures with the onset being usually within the first three years of life. It usually leads to rapid disease progression and death in early childhood. Anecdotal reports suggest that niacin, through its role in nicotinamide adenine dinucleotinde (NAD) de novo synthesis, corrects biochemical derangement, and slows down disease progression. Reports so far have supported this observation. Methods: We describe a patient with a confirmed PEBEL-1 diagnosis and report his clinical response to niacin therapy. Moreover, we systematically searched the literature for PEBEL-1 and PEBEL-2 patients treated with niacin and details about response to treatment and clinical data were reviewed. Furthermore, we are describing off-label use of a COX2 inhibitor to treat niacin-related urticaria in NAXE-encephalopathy. Results: So far, seven patients with PEBEL-1 and PEBEL-2 treated with niacin were reported, and all patients showed a good response for therapy or stabilization of symptoms. We report a patient exhibiting PEBEL-1 with an unfavorable outcome despite showing initial stabilization and receiving the highest dose of niacin reported to date. Niacin therapy failed to halt disease progression or attain stabilization of the disease in this patient. Conclusion: Despite previous positive results for niacin supplementation in patients with PEBEL-1 and PEBEL-2, this is the first report of a patient with PEBEL-1 who deteriorated to fatal outcome despite being started on the highest dose of niacin therapy reported to date.

7.
Diagnostics (Basel) ; 14(1)2024 Jan 03.
Artigo em Inglês | MEDLINE | ID: mdl-38201412

RESUMO

Chronic rhinosinusitis (CRS) can have a significant impact on quality of life. With persistent symptoms and the failure of initial medical treatments, surgical management is indicated. Despite the excellent results of endoscopic sinus surgery for persistent CRS, it is quite a challenging procedure for frontal sinusitis given the complex anatomy and location of the frontal sinus. Frontal recess cells significantly contribute to the complexity of the frontal sinus, and numerous studies have sought to establish their association with sinusitis. This review offers a comprehensive understanding of frontal recess cells, their different classifications, their prevalence among different populations, and their relationship to sinusitis. After an extensive review of the current literature, the International Frontal Sinus Anatomy Classification (IFAC) is the most recent classification method and a preferred practical preoperative assessment tool. Although the agger nasi cell is the most prevalent cell among all reported populations, ethnic variations are still influencing the other cells' distribution. Studies are inconsistent in reporting a relationship between frontal recess cells and sinusitis, and that is mainly because of the differences in the classification methods used. More research using a standardized classification method is needed to understand the association between frontal recess cells and sinusitis.

8.
JIMD Rep ; 65(4): 226-232, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38974611

RESUMO

Carbonic anhydrase VA (CA-VA) deficiency is a rare cause of hyperammonemia caused by biallelic mutations in CA5A. Most patients present with hyperammonemic encephalopathy in early infancy to early childhood, and patients usually have no further recurrence of hyperammonemia with a favorable outcome. This retrospective cohort study reports 18 patients with CA-VA deficiency caused by homozygosity for a founder mutation, c.59G>A p.(Trp20*) in CA5A. The reported patients show significant intrafamilial and interfamilial variability, and display atypical clinical features. Two adult patients were asymptomatic, 7/18 patients had recurrent hyperammonemia, 7/18 patients developed variable degree of developmental delay, 9/11 patients had hyperCKemia, and 7/18 patients had failure to thrive. Microcephaly was seen in three patients and one patient developed a metabolic stroke. The same variant had been reported already in a single South Asian patient presenting with neonatal hyperammonemic encephalopathy and subsequent development of seizures and developmental delay. This report highlights the limitations of current understanding of the pathomechanisms involved in this disorder, and calls for further evaluation of the possible role of genetic modifiers in this condition.

9.
Indian J Radiol Imaging ; 33(1): 124-128, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36855729

RESUMO

Trigeminal neuralgia (TN) is a disabling painful condition along the course of the sensory distribution of the trigeminal nerve that most commonly occurs due to vascular compression or conflict at the root entry zone of the trigeminal nerve. We report a 27-year-old female patient who presented with pain and an electric shock-like sensation on the right side of her face that started three years ago. Magnetic resonance imaging of the brain was done and revealed no neurovascular conflict along the course of the trigeminal nerve. The absence of Meckel's cave with atrophy of the cisternal segment of the trigeminal nerve on the affected side was reported. The absence of Meckel's cave is an exceedingly rare cause of TN, and only a handful of reported cases in the literature suggest the association between them.

10.
Front Neurol ; 14: 1140732, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37139067

RESUMO

Introduction: Cyclosporine A-associated neurotoxicity has been reported in up to 40% of patients and its wide range of neurological adverse effects have been reported, ranging from mild tremors to fatal leukoencephalopathy. Extrapyramidal (EP) neurotoxicity is a rare manifestation of cyclosporine. Cyclosporine-induced extrapyramidal syndrome remains a rare adverse reaction. Design/methods: A database search was performed for studies in patients from all age groups. We found a total of 10 articles reporting EP as an adverse effect of cyclosporine A. A total of 16 patients were found, and a thorough review of these patients was performed. A comparison of patients was performed to highlight common clinical presentations, investigations during the symptomatic phase, and prognosis. In addition, we describe an 8-year-old boy who developed cyclosporine-related extrapyramidal signs on day 60 post-hematopoietic stem cell transplantation for beta-thalassemia. Conclusion: Cyclosporine A can induce neurotoxicity resulting in diverse symptoms. Signs of EP are rare manifestations of cyclosporine neurotoxicity and should be considered when evaluating post-transplant recipients of cyclosporine when they are present with any EP symptoms. Discontinuation of cyclosporine results in good recovery in most patients.

11.
Neuroradiol J ; : 19714009231212369, 2023 Nov 03.
Artigo em Inglês | MEDLINE | ID: mdl-37920914

RESUMO

Abnormal development of the posterior pituitary gland can lead to an ectopic location of the neurohypophysis, commonly seen at the median eminence of the hypothalamus or along the infundibular stalk. A partial ectopic posterior pituitary (PEPP) is a very rare variant of the ectopic posterior pituitary, defined as the presence of a double bright spot of neurohypophysis seen in both orthotopic and ectopic locations. We report a two-year-old male toddler with bilateral optic nerve hypoplasia and severe visual impairment who presented to the endocrine outpatient clinic for hypopituitarism evaluation. Magnetic resonance imaging (MRI) of the brain revealed a hypoplastic pituitary gland and infundibulum with a double bright spot of neurohypophysis in the expected normal location and along the median eminence. Severe hypoplasia of both optic nerves and the optic chiasm was also seen. Septum pellucidum was present with no evidence of other brain malformations. The findings are in the septo-optic dysplasia spectrum associated with hypothalamic-pituitary dysfunction and a very rare entity called PEPP. To our knowledge, only a handful of reported cases of this rare entity exist in the literature.

12.
Sultan Qaboos Univ Med J ; 23(1): 55-60, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36865432

RESUMO

Objectives: This study aimed to determine the orbital dimensions of Omani subjects who had been referred for computed tomography (CT) of the brain at Sultan Qaboos University Hospital, Muscat, Oman. Good knowledge of the normal orbital dimensions is clinically essential for successful surgical outcomes. Racial, ethnic and regional variations in the orbital dimensions have been reported. Methods: A total of 273 Omani patients referred for CT scans of the brain were retrospectively evaluated using an electronic medical records database. The orbital dimensions were recorded using both axial and sagittal planes of CT images. Results: The mean orbital index (OI) was found to be 83.25 ± 4.83 mm and the prevalent orbital type was categorised as the mesoseme. The mean orbital index was 83.34 ± 5.05 mm and 83.16 ± 4.57 mm in males and females, respectively, with their difference not being statistically significant (P = 0.76). However, a statistically significant association was observed between the right and left orbits regarding horizontal distance (P <0.05) and vertical distance (P <0.01) of orbit and OI (P <0.05). No significant difference between the OI and age groups was observed in males and females. The mean interorbital distance and interzygomatic distance were found to be 19.45 ± 1.52 mm and 95.59 ± 4.08 mm, respectively. These parameters were significantly higher in males (P <0.05). Conclusion: Results of the present study provide reference values of orbital dimensions in Omani subjects. Mesoseme, a hallmark of Caucasian people, is discovered to be the prevalent orbital type of Omani subjects.


Assuntos
Tomografia Computadorizada por Raios X , Feminino , Masculino , Humanos , Estudos Retrospectivos , Hospitais Universitários , Omã , Valores de Referência
13.
Sultan Qaboos Univ Med J ; 23(3): 400-404, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37655082

RESUMO

Guillain-Barré syndrome (GBS) is a recognised complication of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). We report two children with GBS associated with SARS-CoV-2 who presented to a tertiary centre in Muscat, Oman in 2021: The first patient was a three-month-old female infant who presented with bradypnea, encephalopathy, and generalised weakness that required mechanical ventilation. Polymerase chain reaction (PCR) testing of the nasopharyngeal swabs (NPS) was positive for SARS-CoV-2. She had axonal variant GBS based on a nerve conduction study, cerebrospinal fluid analysis, and neuroimaging findings. The second patient was a six-year-old girl with fever, vomiting, and diarrhea followed by ascending weakness who presented with quadriplegia and facial weakness. Subsequently, she developed respiratory muscle weakness and required mechanical ventilation. PCR testing of NPS was negative for SARS-Cov-2, however IgG serology analysis was positive. The clinical course of these two patients was rapidly progressive and both of them required mechanical ventilation. The patient with axonal variant GBS made an incomplete recovery.

14.
Sultan Qaboos Univ Med J ; 23(2): 227-232, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37377832

RESUMO

Objectives: This study aimed to examined the frequency of physiological intracranial calcifications (PICs) in paediatric population using computed tomography (CT). Methods: The brain CT scans of consecutive patients (age range: 0-15 years) who had visited Sultan Qaboos University Hospital, Muscat, Oman, from January 2017 to December 2020 were retrospectively assessed for the presence of PICs. The presence of calcifications was identified using 3 mm-thick axial images and coronal and sagittal reformats. Results: A total of 460 patients were examined, with a mean age of 6.54 ± 4.94 years. The frequency of PIC in boys and girls was 35.1% and 35.4%, respectively. PICs were most common in choroid plexus, observed in 35.2% (age range: 0.4-15 years, median: 12 years) of subjects, followed by the pineal gland in 21.1% (age range: 0.5-15 years, median: 12 years) and the habenular nucleus in 13.0% of subjects (age range: 2.9-15 years; median: 12 years). PICs were less common in falx cerebri, observed in 5.9% (age range: 2.8-15 years; median: 13 years) of subjects, and tentorium cerebelli, observed in 3.0% (age range: 7-15 years, median: 14 years) of subjects. PICs increased significantly with increase in age (P <0.001). Conclusion: Choroid plexus is the most frequent site of calcification. Choroid plexus and pineal gland calcifications may be present in infants younger than one year. Recognising PICs is clinically important for radiologists as they can be mistaken for haemorrhage or pathological entities such as neoplasms or metabolic diseases.


Assuntos
Calcinose , Masculino , Lactente , Feminino , Humanos , Criança , Pré-Escolar , Recém-Nascido , Adolescente , Estudos Retrospectivos , Calcinose/diagnóstico por imagem , Calcinose/epidemiologia , Tomografia Computadorizada por Raios X , Calcificação Fisiológica/fisiologia , Cabeça
15.
Cureus ; 15(4): e37319, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37041852

RESUMO

Fibrocartilaginous embolism (FCE) is one of the rare causes of acute spinal cord infarction. We report the case of a previously healthy 14-year-old boy with this condition. A few hours after lifting heavy objects, he developed sudden quadriparesis. On examination, he had asymmetric hypotonic quadriparesis and normal dorsal column function but absent spinothalamic function in all limbs with sensory level to shoulder. Magnetic resonance imaging (MRI) of the spine confirmed the diagnosis of spinal infarction secondary to FCE. The patient initially received methylprednisolone and plasma exchange. A follow-up visit after neurorehabilitation showed improvement but with residual neurological deficit. Although FCE is rare, it should be kept as one of the differential diagnoses of an acute neurological deficit of the spinal cord.

16.
F1000Res ; 12: 71, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37811203

RESUMO

Background: The pneumatization of the frontal sinus is variable between individuals, including monozygotic twins. The volumetric anatomic variants of the frontal sinus are classified into aplasia, hypoplasia, medium-sized, and hyperplasia. We aimed to study the frontal sinus morphology in Omani patients using computed tomography (CT) evaluations. Methods: Retrospectively, 1220 frontal sinus CT scans from 610 patients investigated at Sultan Qaboos University Hospital, Oman, from January 2019 to December 2020 were reviewed. The frontal sinus morphology was classified according to the classification proposed by Guerram et al. The Chi-square test was used to determine the influence of sex. Results: With regard to the unilateral occurrence, the most prevalent frontal sinus category observed was medium-sized (13.3%), followed by hyperplasia (7.9%), hypoplasia (5.4%), and aplasia (2%) categories. Similarly, in bilateral occurrence, the most common frontal sinus category observed was medium-sized (53%), followed by hyperplasia (13.1%), hypoplasia (3.4%) and aplasia (2%) categories. Right and left frontal sinus aplasia were observed in 2.1% and 1.8% of cases, respectively. In terms of sex influence, the left unilateral ( p<0.01) and the bilateral hypoplasia ( p<0.05) were significantly higher in females. On the other hand, the left unilateral ( p<0.01) and the bilateral hyperplasia ( p<0.05) were higher in males. Conclusions: The baseline data of frontal sinus category frequencies reported in the present study is helpful in the diagnostic evaluation of sinusitis in the clinical setting. The preoperative recognition of frontal sinus types, particularly frontal sinus aplasia in multiplanar CT scans, is crucial to avoid unexpected complications while performing endoscopic sinus surgery.


Assuntos
Seio Frontal , Feminino , Humanos , Masculino , Variação Anatômica , Seio Frontal/diagnóstico por imagem , Seio Frontal/anormalidades , Hiperplasia , Estudos Retrospectivos , Tomografia Computadorizada por Raios X/métodos
17.
Cureus ; 15(6): e40647, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37476110

RESUMO

Alveolar soft part sarcoma (ASPS) is a rare type of soft tissue sarcoma that typically affects adolescents and young adults, though it can occur at any age. We report a case of ASPS of the tongue, which is extremely rare at this location. The patient presented with a polypoidal lesion on the tongue, a biopsy of which showed granular and alveolar morphology. A definitive diagnosis was not rendered due to limited tissue. The case was discussed with the treating surgeon, and excision was recommended with clear margins. Excision of the lesion showed typical ASPS. A TFE-3 immunohistochemical stain was done, which showed strong immunoreactivity, thereby confirming the diagnosis of ASPS. This tumour is rare, and its presence in the tongue makes it extremely infrequent.

18.
Pediatr Neurol ; 148: 73-80, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37688971

RESUMO

BACKGROUND: NOTCH3, a large type I transmembrane receptor expressed on arterial smooth muscle cells and capillary pericytes, features a diverse extracellular domain with 34 epidermal growth factor-like repeats. It exhibits distinct phenotypes due to variant zygosity and type; missense mutations cause CADASIL with cerebral vasculopathy, while null mutations lead to severe congenital manifestations. METHODS: This report describes two cases with homozygous loss- of- function variants in NOTCH3 along with their clinical manifestations. RESULTS: These patients presented with a severe congenital phenotype, including eye misalignment, visual impairment, epilepsy, global developmental delay, and subsequent development of pyramidal signs. Biallelic nonsense variants were discovered in both the cases (NM_000435.3:c.2203 C > T (p. [Arg735Ter]). Livedo reticularis was not reported in our cases, although it was present in previously reported patients. Autosomal recessive NOTCH3-related leukodystrophy is usually caused by biallelic null mutations in NOTCH3. CONCLUSIONS: The phenotype of biallelic null variants is associated with a more severe phenotype than the dominantly inherited form of the disease.

19.
Oman Med J ; 38(5): e557, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38192363

RESUMO

As COVID-19 emerged in the world, there was a high prevalence of intubation and intensive care admissions. Many cases of barotrauma were reported in those patients. This condition is caused by alveoli rupture, which causes the air to enter the surrounding extra-alveolar spaces. It mainly happens in intubated patients. Here, we report 14 cases of barotrauma in COVID-19 patients, which appeared either spontaneously or after receiving non-invasive ventilation, some of the patients presented initially with mild-moderate forms of the disease in terms of severity. Developing barotrauma causes a management challenge in COVID-19 patients, where the patients might require invasive mechanical ventilation afterwards, which is a difficult situation. Lung protective measures should be used to reduce the risk of barotrauma in all patients as it is associated with increased mortality.

20.
Oman Med J ; 38(6): e578, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38264516

RESUMO

Commonly, herpes simplex virus (HSV) causes infectious encephalitis among children. A neurological relapse after primary HSV encephalitis in the weeks or months after presentation is well recognized. Relapsing symptoms of post-HSV encephalitis can present either as a true relapse or an immune-mediated disorder. A relationship is predicted between immune-mediated disorder and N-methyl-D-aspartate receptor (NMDAR) antibodies. This study presents two cases of patients suffering from anti-NMDAR encephalitis that appeared after treatment for proven HSV encephalitis. The first patient was treated immediately after the presentation as autoimmune encephalitis and had an excellent outcome. The second patient had delayed initiation of treatment and suffered from intractable epilepsy and severe global developmental delay. An important role is played by recognizing anti-NMDAR encephalitis symptoms and its variable presentation for timely diagnosis and quick initiation of treatment for anti-NMDAR encephalitis, thus, improving the outcome for those patients.

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