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1.
J Craniovertebr Junction Spine ; 15(1): 110-113, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38644918

RESUMEN

Ewing's sarcoma is a rare and highly aggressive bone tumor primarily affecting children and adolescents. It commonly presents in the pelvic and axial skeleton, with sacral involvement posing unique challenges due to its intricate anatomical location. This report details the case of an 18-year-old male with sacral Ewing's sarcoma, emphasizing the diagnostic, surgical, and reconstructive aspects of management. The patient presented with lower back pain, lower limb weakness, and urinary incontinence, which prompted an extensive diagnostic evaluation. Magnetic resonance imaging and computed tomography scans revealed a large lytic mass extending from the S2 vertebra to the coccyx invading the presacral space. Biopsy confirmed the diagnosis of Ewing's sarcoma, characterized by the EWS-FLI1 type 1 translocation. A multidisciplinary team comprising neurosurgeons, colorectal surgeons, and plastic surgeons was formulated. En bloc resection of the tumor, lumbopelvic fixation, and soft-tissue reconstruction using bilateral gluteus maximus advancement flaps were successfully performed. The procedure aimed to address both the oncological and functional aspects of the patient's condition. Chemotherapy and radiotherapy were administered as adjuvant therapies. At 2-year follow-up, the patient was ambulating independently with no residual tumor on imaging. This case highlights the complex nature of sacral Ewing's sarcoma and underscores the importance of a multidisciplinary approach. The described surgical technique, including the innovative use of gluteus maximus advancement flaps for soft-tissue reconstruction, contributes to reducing wound complications and promoting successful patient outcomes. The presented approach serves as a valuable addition to the armamentarium of treatment options for this challenging malignancy.

2.
Childs Nerv Syst ; 40(6): 1849-1858, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38472391

RESUMEN

PURPOSE: Postoperative fever is a common problem following neurosurgery but data on the causes among paediatric patients is sparse. In this report, we determined the incidence, causes, and outcomes of postoperative fever in paediatric neurosurgical patients (< 18 years), and contrasted the findings with an adult cohort published recently from our unit. METHODS: We recruited 61 patients who underwent 73 surgeries for non-traumatic neurosurgical indications over 12 months. A standard protocol was followed for the evaluation and management of postoperative fever. We prospectively collected data pertaining to operative details, daily maximal temperature, clinical features, and use of surgical drains, urinary catheters, and other adjuncts. Elevated body temperature of > 99.9 °F or 37.7 °C for > 48 h or associated with clinical deterioration or localising features was considered as "fever"; elevated temperature not meeting these criteria was classified as transient elevation in temperature (TET). RESULTS: Twenty-six patients (35.6%) had postoperative fever, more frequent than in adult patients. TET occurred in 12 patients (16.4%). The most common causes of fever were aseptic meningitis (34.6%), followed by urinary tract infections (15.4%), pyogenic meningitis, COVID-19, and wound infections. Postoperative fever was associated with significantly longer duration of hospital admission and was the commonest cause of readmission. CONCLUSION: In contrast to adults, early temperature elevations in paediatric patients may portend infectious and serious non-infectious causes of fever, including delayed presentation with aseptic meningitis, a novel association among paediatric patients. Investigation guided by clinical assessment and conservative antibiotic policy in keeping with the institutional microbiological profile provides the most appropriate strategy in managing paediatric postoperative fever.


Asunto(s)
Fiebre , Procedimientos Neuroquirúrgicos , Complicaciones Posoperatorias , Humanos , Femenino , Fiebre/etiología , Fiebre/epidemiología , Masculino , Niño , Procedimientos Neuroquirúrgicos/efectos adversos , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Adolescente , Preescolar , Lactante , Estudios Prospectivos , Incidencia
3.
J Neurosci Rural Pract ; 15(1): 134-136, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38476419

RESUMEN

Intracranial hypotension (IH) represents a syndrome secondary to low cerebrospinal fluid pressure. This case of IH following a lumbar drain inserted before the excision of a left intraconal lesion, leading to recurrent post-operative unilateral subdural and extradural collections, was treated successfully with the evacuation of the collection and simultaneous epidural blood patch (EBP) injection. Our report provides an important perspective on the management of IH with recurrent intracranial collections and reiterates that IH should be considered when dealing with recurrent unilateral intracranial collections in the post-operative period. Evacuation with a simultaneous EBP is an effective strategy for managing IH.

4.
Brain Spine ; 4: 102736, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38510623

RESUMEN

Purpose: We studied the clinico-radiological features and treatment outcomes of patients with aggressive spinal haemangiomas. Methods: We undertook a retrospective review of 24 patients with aggressive spinal haemangiomas managed at our centre from 2004 to 2016. The cohort was divided into two groups. Group1 included patients managed from 2004 to 2009 while Group 2 was those treated between 2010 and 2016. Clinicoradiological features and treatment outcomes were studied. Results: Back pain (24/24) and myelopathy (18/24) were the most common presenting complaints. Over 80% (20/24) of patients, had involvement of the thoracic spine and more than 50% (13/24) had severe spasticity, being Nurick grade 4&5 at presentation. The various treatment modalities used were laminectomy with or without instrumented posterior fusion (10/24), corpectomy with instrumented fusion (10/24) and alcohol injection alone (4/24). Patients who were treated with surgery had significant clinical improvement at follow-up in both groups. Patients who underwent alcohol injection did not have any improvement in symptoms at follow-up. There was a change in our strategy in the later part of the series from a two staged anterior and posterior approach to a single staged posterior-only approach to address vertebral body disease with preoperative angioembolization. Conclusion: Haemangiomas are benign lesions with locally aggressive behavior in some cases. Results of conservative approaches such as alcohol injection in management of these lesions are discouraging. Aggressive surgical decompression combined with preoperative adjuncts such as angioembolization with or without stabilization reduces intra operative blood loss and results in good neurological recovery even in patients with severe myelopathy.

5.
ACS Chem Neurosci ; 15(5): 983-993, 2024 03 06.
Artículo en Inglés | MEDLINE | ID: mdl-38355427

RESUMEN

Temporal lobe epilepsy (TLE) is one of the most common neurological disorders, often accompanied by hippocampal sclerosis. The molecular processes underlying this epileptogenesis are poorly understood. To examine the lipid profile, 39 fresh frozen sections of the human hippocampus obtained from epilepsy surgery for TLE (n = 14) and non-TLE (control group; n = 25) patients were subjected to desorption electrospray ionization mass spectrometry imaging in the negative ion mode. In contrast to our earlier report that showed striking downregulation of positively charged phospholipids (e.g., phosphatidylcholine and phosphatidylethanolamine, etc.) in the TLE hippocampus, this study finds complementary upregulation of negatively charged phospholipids, notably, phosphatidylserine and phosphatidylglycerol. This result may point to an active metabolic pool in the TLE hippocampus that produces these anionic phospholipids at the expense of the cationic phospholipids. This metabolic shift could be due to the dysregulation of the Kennedy and CDP-DG pathways responsible for biosynthesizing these lipids. Thus, this study further opens up opportunities to investigate the molecular hallmarks and potential therapeutic targets for TLE.


Asunto(s)
Epilepsia del Lóbulo Temporal , Fosfolípidos , Humanos , Fosfolípidos/metabolismo , Hipocampo/metabolismo , Epilepsia del Lóbulo Temporal/complicaciones , Epilepsia del Lóbulo Temporal/metabolismo , Epilepsia del Lóbulo Temporal/cirugía , Espectrometría de Masas , Regulación hacia Arriba , Imagen por Resonancia Magnética/métodos
6.
Patient Prefer Adherence ; 17: 2789-2795, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37942121

RESUMEN

Objective: Adherence to anti-platelet medications is critical following coronary stenting, but prior studies indicate that clinician assessment and patient self-assessment of adherence are poorly correlated with future medication-taking behavior. We therefore sought to determine if integrated pharmacy data can be used to identify patients at high risk of non-adherence after percutaneous coronary interventions (PCI). Methods: Using Veteran Affairs (VA) Clinical Assessment, Reporting, and Tracking (CART) data linked with pharmacy records, we assessed adherence to cardiovascular medications from 2012 to 2018. Adherence was defined as the proportion of days covered (PDC) ≥ 0.80. We assessed the association of pre-PCI adherence with post-PCI adherence to P2Y12 inhibitors and clinical outcomes using logistic regression and Cox proportional hazard models, respectively. Results: Among 56,357 patients, 66.0% filled at least 1 cardiovascular medication within VA for the year prior to PCI and were evaluable for adherence. Pre-PCI non-adherence was 20.7%, and non-adherent patients were more likely to be younger and present non-electively. Non-adherent patients were less likely to adhere to P2Y12 inhibitor therapy after PCI (Adjusted OR 0.45 C.I. 0.41-0.46), compared with adherent patients, and had a higher adjusted risk of mortality (HR 1.17 C.I. 1.03-1.33). Conclusion: Adherence to cardiovascular medications prior to PCI can be assessed for most patients using pharmacy data, and past adherence is associated with future adherence and mortality after PCI. Use of integrated pharmacy data to identify high-risk patients could improve outcomes and cost-effectiveness of adherence interventions.

7.
J Neurol Surg B Skull Base ; 84(3): 217-224, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37187478

RESUMEN

Purpose Due to the potential risk of COVID-19 transmission during endonasal surgery, we studied methods to reduce droplet and aerosol generation during these procedures. Methods Droplet spread was assessed using ultraviolet light and a camera that detected fluorescence in the operative field and surgeon's personal protective equipment. Density of aerosols sized <10 µm was measured using a photometric particle counter. We designed a face-mounted negative-pressure mask placed on the patients' face during endoscopic endonasal surgery. Sixteen patients were recruited between October 2020 and March 2021 and randomly assigned to the mask and no-mask groups. We compared droplet spread and aerosols generated in both groups, with copious irrigation and continuous suction during drilling forming the mainstay of surgical technique in all cases. Results Droplet contamination due to direct spillage of fluorescein from the syringe was noted in two patients. Aerosol density rose during sphenoid drilling in both groups, with no significant difference when continuous suction and irrigation were employed (1.27 times vs. 1.07 times the baseline, p = 0 .248 ). Aerosol density rose significantly when suction and irrigation were interrupted in the no-mask group (44.9 times vs. 1.2 times, p = 0 .028) , which was not seen when the mask was used. Conclusion Aerosol generation increases during drilling in endonasal procedures and is a concern during this pandemic. The use of a rigid suction close to the drill along with copious irrigation is effective in reducing aerosol spread. The use of a negative pressure mask provides additional safety when inadvertent blockage of suction and inadequate irrigation occur.

8.
BMJ Open Ophthalmol ; 7(1)2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-36161840

RESUMEN

OBJECTIVE: To determine the usefulness of retinal nerve fibre layer (RNFL) thickness and a reliable cut-off value that can predict postoperative visual function improvement in patients with pituitary macroadenoma. METHODS AND ANALYSIS: This was a prospective observational study. Preoperative optical coherence tomography of the RNFL was performed in patients with pituitary macroadenoma. Postoperative visual function changes (acuity and visual fields) were identified using predefined criteria. Receiver operating characteristic curves were constructed for RNFL values to define the ideal cut-off value that predicted improvement. Other variables including preoperative visual acuity, mean deviation, visual field index and tumour volume were also analysed. RESULTS: Twenty-nine eligible subjects (58 eyes) were recruited. The mean (±SD) age was 43.9 (±12.85) years and 65.5% were male. The mean (±SE) follow-up duration was 20.8 (±6.42) months. RNFL thickness was significantly thinner in eyes with visual dysfunction and optic disc pallor. Better preoperative logarithmic minimum angle of resolution (logMAR) visual acuity, higher RNFL thickness and smaller tumour volume were associated with postoperative visual field improvement on univariate analysis; however, only mean RNFL thickness had significant association on multivariate analysis. None of the preoperative variables showed significant association with improvement in visual acuity. The best cut-off of mean RNFL thickness for visual field improvement was estimated at 81 µm with 73.1% sensitivity and 62.5% specificity. CONCLUSION: Preoperative RNFL thickness can be an objective predictor of visual field outcomes in patients undergoing surgery for pituitary macroadenomas, with moderate sensitivity and specificity. It is, however, not a good predictor of visual acuity outcome.


Asunto(s)
Fibras Nerviosas , Neoplasias Hipofisarias , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Fibras Nerviosas/patología , Neoplasias Hipofisarias/complicaciones , Células Ganglionares de la Retina/patología , Tomografía de Coherencia Óptica/métodos , Trastornos de la Visión/diagnóstico , Campos Visuales
9.
J Clin Neurosci ; 103: 26-33, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-35809454

RESUMEN

Postoperative fever is mostly transient and inconsequential but may portend a serious postoperative infection requiring a thorough evaluation, especially during the recent COVID-19 pandemic. We aimed to determine the incidence, causes and outcomes of postoperative fever in neurosurgical patients, as well as to evaluate a protocol for management of postoperative fever. We conducted a prospective study over 12 months, recruiting 425 adult patients operated for non-traumatic neurosurgical indications. We followed a standard protocol for the evaluation and management of postoperative fever collecting data regarding operative details, daily maximal temperature, clinical features, as well as use of surgical drains, urinary catheters, and other invasive adjuncts. Elevated body temperature of > 99.9°F or 37.7 °C for over 48 h or associated with clinical deterioration or localising features was considered as "fever" and was evaluated according to our protocol. We classified elevated temperature not meeting this criterion as a transient elevation in temperature (TET). Sixty-five patients (13.5%) had postoperative fever. Transient elevation of temperature, occurring in 40 patients (8.8%) was most common in the first 48 h after surgery. The most common causes of fever were urinary tract infections (13.7%), followed by aseptic meningitis (10.8%), wound infections and pneumonia. Various aetiologies of fever followed distinct patterns, with COVID-19 and meningitis causing high-grade, prolonged fever. Multivariate analysis revealed cranial surgery, prolonged duration of surgery, urinary catheters and wound drains retained beyond POD 3 to predict fever. Postoperative fever was associated with significantly longer duration of hospital admission. COVID-19 had a high mortality rate in the early postoperative period.


Asunto(s)
COVID-19 , Neurocirugia , Adulto , Fiebre , Humanos , Procedimientos Neuroquirúrgicos , Pandemias , Estudios Prospectivos
10.
World Neurosurg ; 162: e587-e596, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35321841

RESUMEN

BACKGROUND: There is limited literature on outcomes after surgical treatment of giant craniopharyngiomas in adult and pediatric patients. METHODS: A retrospective review of 159 patients undergoing surgery for craniopharyngiomas at a single institution was performed. Patients with giant craniopharyngiomas (maximum dimension ≥4.5 cm) were compared with nongiant tumors in terms of various clinical and radiological parameters and long-term surgical outcomes. Extent of resection was determined by postoperative magnetic resonance imaging. Factors associated with post-treatment obesity were also analyzed. RESULTS: Giant craniopharyngiomas (n = 66) were characterized by higher rates of childhood presentation, visual impairment, neurological deficits, multicompartmental involvement, and hydrocephalus as compared with nongiant tumors (n = 139). Giant tumors also were less likely to undergo transsphenoidal resection and were associated with a higher rate of postoperative neurological morbidity. There were no significant differences between the 2 groups in terms of extent of resection, use of postoperative radiation therapy, and long-term endocrinological outcomes. Overall recurrence rates over a mean follow-up period of 4.1 years were similar between giant and nongiant tumors; however, recurrences after presumed gross total resection/near total resection were significantly higher in the former subgroup versus the latter (39.4% vs. 18.4%; P = 0.044). Risk factors for post-treatment obesity in giant craniopharyngiomas included adult age (P = 0.001), preoperative obesity (P = 0.003), and hypothalamic involvement (P = 0.012). CONCLUSION: Gross total resection/near total resection of giant craniopharyngiomas can be achieved at rates comparable to nongiant tumors. However, there remains a greater risk of postoperative neurological morbidity. Radiation therapy mitigates the risk of recurrence on long-term follow-up.


Asunto(s)
Craneofaringioma , Neoplasias Hipofisarias , Adulto , Niño , Craneofaringioma/complicaciones , Craneofaringioma/diagnóstico por imagen , Craneofaringioma/cirugía , Humanos , Recurrencia Local de Neoplasia/cirugía , Obesidad/complicaciones , Neoplasias Hipofisarias/complicaciones , Neoplasias Hipofisarias/diagnóstico por imagen , Neoplasias Hipofisarias/cirugía , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Estudios Retrospectivos , Resultado del Tratamiento
11.
CNS Oncol ; : CNS79, 2021 Nov 22.
Artículo en Inglés | MEDLINE | ID: mdl-34806399

RESUMEN

Background: Primary intracranial germ cell tumors (ICGCT) are often diagnosed with tumor markers and imaging, which may avoid the need for a biopsy. An intracranial germ cell tumor with mild elevation of markers is seldom stratified as a distinct entity. Methods: Fifty-nine patients were stratified into three groups: pure germinoma (PG), secreting germinoma (SG) and non-germinomatous germ cell tumors (NGGCTs). Results: At 5 years, progression-free survival and overall survival of the three groups (PG vs SG vs NGGCT) were 91% versus 81% versus 59%, and 100% versus 82% versus 68%, respectively. There was no statistically significant difference in outcome among histologically and clinically diagnosed germinomas. Conclusion: A criterion for clinical diagnosis when a biopsy is not feasible is elucidated, and comparable outcomes were demonstrated with histologically diagnosed germinomas.


Lay abstract Intracranial germ cell tumors (ICGCTs) are rare brain tumors, which often require markers in blood or cerebrospinal fluid, imaging and a tissue biopsy to establish a diagnosis. However, when tissue sampling is not possible, tumor markers can sometimes be used to diagnose ICGCTs. The authors propose guidelines for a diagnosis and a novel subtype of ICGCT called secreting germinoma, which is also described. Fifty-nine patients were separated into three groups: pure germinoma (PG), secreting germinoma (SG) and non-germinomatous germ cell tumors (NGGCTs). At 5 years, progression-free survival and overall survival of the three groups (PG vs SG vs NGGCT) were 91% versus 81% versus 59%, and 100% versus 82% versus 68%, respectively. There was no significant difference in outcome among tumors diagnosed with markers in blood or cerebrospinal fluid and those diagnosed with a biopsy. The proposed guidelines for diagnosis need to be evaluated in future studies. SGs may not warrant aggressive treatment protocols as used in NGGCT, and their outcome as a distinct group needs to be explored in future studies.

12.
ACS Chem Neurosci ; 12(21): 4187-4194, 2021 11 03.
Artículo en Inglés | MEDLINE | ID: mdl-34657435

RESUMEN

Temporal lobe epilepsy (TLE) is the most prevalent form of human epilepsy, often accompanied by neurodegeneration in the hippocampus. Like other neurological diseases, TLE is expected to disrupt lipid homeostasis. However, the lipid architecture of the human TLE brain is relatively understudied, and the molecular mechanism of epileptogenesis is poorly understood. We performed desorption electrospray ionization mass spectrometry imaging of 39 fresh frozen surgical specimens of the human hippocampus to investigate lipid profiles in TLE with hippocampal sclerosis (n = 14) and control (non-TLE; n = 25) groups. In contrast to several previous studies on animal models of epilepsy, we report reduced expression of various important lipids, notably phosphatidylcholine (PC) and phosphatidylethanolamine (PE), in the human TLE hippocampus. In addition, metabolic pathway analysis suggested the possible dysregulation of the Kennedy pathway in TLE, resulting in striking reductions of PC and PE levels. This revelation opens up opportunities to further investigate the associated molecular mechanisms and possible therapeutic targets for TLE.


Asunto(s)
Epilepsia del Lóbulo Temporal , Epilepsia , Animales , Epilepsia del Lóbulo Temporal/diagnóstico por imagen , Hipocampo , Humanos , Metabolismo de los Lípidos , Imagen por Resonancia Magnética , Espectrometría de Masas
13.
Br J Neurosurg ; : 1-8, 2021 Jun 21.
Artículo en Inglés | MEDLINE | ID: mdl-34148450

RESUMEN

PURPOSE: During the ongoing COVID-19 pandemic, endonasal surgeries for sellar-suprasellar lesions were discouraged due to the risk of transmission of the disease. We reviewed the changes in our management protocol for these lesions as our disease understanding and preparedness evolved. MATERIALS AND METHODS: This was a retrospective observational study including patients with sellar-suprasellar and clival lesions presenting to us between March and October 2020. Management protocols were divided into three phases based on the prevalence of the disease and the number of mandatory preoperative COVID-19 tests being conducted. The surgical approach used was analyzed in relation to the preferred approach during pre-COVID times, and surgical outcomes and complications were noted. RESULTS: A total of 31 cases were operated during this period. During Phase I (low prevalence; no preoperative COVID testing) endonasal surgeries were largely abandoned in favor of transcranial approaches. In Phase II (medium prevalence; one preoperative COVID test) we gradually resumed endonasal surgeries for 'emergent' and 'essential' cases, and subsequently in Phase III (high prevalence; two preoperative COVID tests), we had no hesitation in performing 'elective' endonasal surgeries with additional barriers for prevention of aerosol transmission. No patient developed COVID-19 infection postoperatively. Eight HCWs in our department acquired the disease during this period, none of whom were directly involved in the surgeries for the above cohort of patients. CONCLUSIONS: With a strict preoperative COVID testing protocol, adherence to proper drilling techniques and using additional barriers to prevent droplet and aerosol spread, endonasal surgeries for sellar-suprasellar lesions are safe during this COVID-19 pandemic.

14.
Turk Neurosurg ; 31(4): 574-581, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33978215

RESUMEN

AIM: To analyze the clinical and surgical outcomes following gross total resection (GTR) and planned subtotal resection (STR) of giant intracranial epidermoid tumors. MATERIAL AND METHODS: In this retrospective cohort study, all patients who were diagnosed with and operated for giant intracranial epidermoid tumors between January 2007 and May 2016 were included. The demographics, clinical outcomes, and surgical outcomes of these patients were analyzed. RESULTS: Forty-eight patients were enrolled in this study, and multicompartmental epidermoid tumors were observed in 23% of the patients. The mean size of the tumors was 6.2 cm (range, 4.0?9.0 cm). GTR and near-total resection (NTR) were performed in 34 (71%) patients. Fourteen patients (29%) underwent STR. Most patients (89%) had Glasgow Outcome Scale (GOS) of 5, whereas 8% had GOS of 4. The GTR/NTR group (23.5%) had more permanent complications than the STR group (7.1%). The mean follow-up period was 5.2 years (range, eight months to nine years). In the STR group, four patients (29%) showed an increase in the residual tumor, and only one patient (7%) was symptomatic and required reoperation. CONCLUSION: STR of giant intracranial epidermoid tumors is a safe surgical strategy with good surgical outcome. The requirement for reoperation is usually late and seldom required but can be done safely. The average time to recurrence was more than seven years.


Asunto(s)
Neoplasias Encefálicas/cirugía , Carcinoma de Células Escamosas/cirugía , Adolescente , Adulto , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/epidemiología , Neoplasias Encefálicas/patología , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/epidemiología , Carcinoma de Células Escamosas/patología , Estudios de Cohortes , Femenino , Humanos , India/epidemiología , Masculino , Márgenes de Escisión , Persona de Mediana Edad , Recurrencia Local de Neoplasia/diagnóstico , Recurrencia Local de Neoplasia/epidemiología , Recurrencia Local de Neoplasia/cirugía , Neoplasia Residual , Procedimientos Neuroquirúrgicos/efectos adversos , Procedimientos Neuroquirúrgicos/métodos , Procedimientos Neuroquirúrgicos/estadística & datos numéricos , Pronóstico , Reoperación/estadística & datos numéricos , Estudios Retrospectivos , Resultado del Tratamiento , Carga Tumoral , Adulto Joven
15.
Horm Metab Res ; 53(4): 245-256, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33853118

RESUMEN

Multiple Endocrine Neoplasia type-1 (MEN1) is an autosomal dominant disorder with a combined occurrence of tumours of parathyroid glands, pancreatic islets, and anterior pituitary. About 90% of these patients carry mutations in the MEN1 gene, though the spectrum is not well defined in India. Forty clinically suspected cases of MEN1 were enrolled prospectively over six years; 32 patients (23 index-cases and nine affected relatives) with≥2 classical endocrine tumours of MEN1 were considered definite, and eight were categorised as 'MEN1-like'. Details of their clinical presentation, treatment and mutational analysis including MEN1 gene, 3' and 5' untranslated regions (UTR) of MEN1, CDKN1B, and CaSR genes were collated. Asymptomatic first-degree relatives were also screened. Among the 32 definite MEN1 patients, all had primary hyperparathyroidism, 22 (68.7%) had gastroentero-pancreatic neuroendocrine tumours, and 21 (66%) had pituitary adenoma. Of the 23 definite index-cases, 13 (56.5%) carried mutations in the MEN1 gene. Five of nine affected first-degree relatives (55.5%), and four of 10 asymptomatic relatives (40%) also had MEN1 mutations. Seven of 10 MEN1 mutation-negative definite index-cases harboured p.V109G polymorphism in the CDKN1B gene. All eight MEN1-like cases were negative for mutations and large deletions in MEN1, mutations in 3' and 5' UTR of MEN1, CaSR and CDKN1B genes. The study has helped to clearly document the pattern of mutations among Indian MEN1 patients. However, the absence of MEN1 mutation in ~44% of cases and the presence of p.V109G polymorphism in CDKN1B gene raise the question whether such polymorphisms could independently contribute to pathogenesis.


Asunto(s)
Neoplasia Endocrina Múltiple Tipo 1/genética , Mutación , Proteínas Proto-Oncogénicas/genética , Adolescente , Adulto , Anciano , Inhibidor p27 de las Quinasas Dependientes de la Ciclina/genética , Análisis Mutacional de ADN , Femenino , Humanos , India , Masculino , Persona de Mediana Edad , Neoplasia Endocrina Múltiple Tipo 1/metabolismo , Linaje , Estudios Prospectivos , Proteínas Proto-Oncogénicas/metabolismo , Receptores Sensibles al Calcio/genética , Regiones no Traducidas , Adulto Joven
16.
Am Heart J ; 235: 97-103, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33567319

RESUMEN

BACKGROUND: Interventional cardiologists receive feedback on their clinical care from a variety of sources including registry-based quality measures, case conferences, and informal peer interactions. However, the impact of this feedback on clinical care is unclear. METHODS: We interviewed interventional cardiologists regarding the use of feedback to improve their care of percutaneous coronary intervention (PCI) patients. Interviews were assessed with template analysis using deductive and inductive techniques. RESULTS: Among 20 interventional cardiologists from private, academic, and Department of Veterans Affairs practice, 85% were male, 75% performed at least 100 PCIs annually, and 55% were in practice for 5 years or more. All reported receiving feedback on their practice, including formal quality measures and peer learning activities. Many respondents were critical of quality measure reporting, citing lack of trust in outcomes measures and poor applicability to clinical care. Some respondents reported the use of process measures such as contrast volume and fluoroscopy time for benchmarking their performance. Case conferences and informal peer feedback were perceived as timelier and more impactful on clinical care. Respondents identified facilitators of successful feedback interventions including transparent processes, respectful and reciprocal peer relationships, and integration of feedback into collective goals. Hierarchy and competitive environments inhibited useful feedback. CONCLUSIONS: Despite substantial resources dedicated to performance measurement and feedback for PCI, interventional cardiologists perceive existing quality measures to be of only modest value for improving clinical care. Catherization laboratories should seek to integrate quality measures into a holistic quality program that emphasizes peer learning, collective goals and mutual respect.


Asunto(s)
Cardiólogos/normas , Enfermedad de la Arteria Coronaria/cirugía , Percepción/fisiología , Intervención Coronaria Percutánea , Pautas de la Práctica en Medicina , Sistema de Registros , Femenino , Humanos , Masculino , Estudios Retrospectivos
17.
Neurol India ; 69(6): 1565-1570, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34979644

RESUMEN

BACKGROUND: Back pain and radicular pain due to disc degeneration are probably the most common problems encountered in neurosurgical practice. The experience and results of stem cell therapy in animal disc degeneration model will help us while doing clinical trials. OBJECTIVE: To study the effect of bone marrow-derived mesenchymal stem cells in an established mouse disc degeneration model. METHODS: An easily reproducible mouse coccygeal (Co) 4-5 disc degenerated model by CT-guided percutaneous needle injury was established. The mesenchymal stem cells (MSCs) were cultured from mouse bone marrow and validated. By an established technique, 24 mice disc degenerative models were generated and divided equally into 3 groups (test, placebo, and control). The test group received MSCs with fibrin glue scaffold and placebo group received only scaffold after 6 weeks of degeneration. The control group did not receive any injection. The effects of MSCs were analyzed 8 weeks post injection. RESULTS: The test group showed a significant change in disc height index (%) in micro CT, whereas in the placebo and control groups, there was no change. The Safranin O staining showed an increase in glycosaminoglycan content and the polarized imaging of picrosirius red staining showed restoration of the collagen fibers in annulus fibrosus, which was statistically significant. CONCLUSION: Intradiscal MSC injection restored disc height and promoted regeneration in the discs at the end of 8 weeks. MSC's niche depends on the microenvironment of the host tissue. These findings will be helpful for clinical trials.


Asunto(s)
Degeneración del Disco Intervertebral , Disco Intervertebral , Células Madre Mesenquimatosas , Animales , Médula Ósea , Modelos Animales de Enfermedad , Degeneración del Disco Intervertebral/terapia , Ratones
18.
Acta Radiol ; 62(4): 533-540, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-32539423

RESUMEN

BACKGROUND: Diffusion-weighted imaging (DWI) provides information about the cellular density of tumors. This feature is useful in grading and identifying different tumor types. PURPOSE: To assess the value of diffusion restriction and apparent diffusion coefficient (ADC) values in differentiating pediatric infratentorial tumors. MATERIAL AND METHODS: This was a retrospective review of the magnetic resonance imaging (MRI) of 82 children (age range 1-16 years) with infratentorial tumors. Histopathological grading after surgical excision/biopsy was categorized as low grade (WHO grades I and II) (n = 31; 29 pilocytic astrocytomas, 2 ependymomas) and high grade (WHO grade III and IV) (n = 51; 40 medulloblastomas, 8 anaplastic ependymomas, 1 anaplastic astrocytoma, 2 atypical rhabdoid teratoid tumors [ATRT]). MRI features and ADC values were compared among tumor types and grades using a two-tailed t test, Mann-Whitney U test for continuous data and Chi-square test for categorical variables. RESULTS: Diffusion restriction and low ADC value was a feature of high-grade tumors (P<0.001). The mean ADC values of the low-grade and high-grade tumors were 1.567 × 10-3mm2/s and 0.661 × 10-3mm2/s, respectively. Using 0.9 × 10-3mm2/s as the cut-off value, the sensitivity, specificity, positive and negative predictive values for differentiating the grades was 87%, 100%, 100%, and 81.8%, respectively. Significant differences were found between the mean ADC values of the individual tumor types (P<0.05), except between medulloblastoma and ATRT. CONCLUSION: ADC values and visual assessment of diffusion restriction are useful in tumor grading. The individual tumor types can be identified by an algorithmic approach, using DWI in conjunction with other described MRI features.


Asunto(s)
Imagen de Difusión por Resonancia Magnética , Neoplasias Infratentoriales/diagnóstico por imagen , Neoplasias Infratentoriales/patología , Neuroimagen , Adolescente , Niño , Preescolar , Diagnóstico Diferencial , Femenino , Humanos , Lactante , Masculino , Clasificación del Tumor , Estudios Retrospectivos
19.
Asian Spine J ; 15(4): 415-423, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-33355845

RESUMEN

STUDY DESIGN: Animal case control study. PURPOSE: To create a simple, reproducible disc degeneration model for mouse coccygeal vertebrae. OVERVIEW OF LITERATURE: Back pain due to disc degeneration is probably the most common problem encountered in neurosurgical practice. An easily reproducible animal model for disc degeneration will help in understanding its pathophysiology, and serve as a platform for examining various therapeutic options. METHODS: A total of 18 mice were divided into injured (n=12) and non-injured (n=6) groups. The disc height index (DHI%) at coccygeal 4-5 level was measured by computed tomography (CT) scan for all mice. Coccygeal 4-5 discs of the injury group were injured using a 32G needle fixed to a novel tool and confirmed by CT. The non-injury group underwent no procedure. DHI% was measured by CT at 2-, 4-, and 6-week post-injury, and all mice tails were sectioned for histopathology grading of disc degeneration at the respective time intervals. RESULTS: The injured group showed significant variation in DHI% at 2, 4, and 6 weeks, whereas there was no change in the noninjured group. Histopathologic evaluation with Safranin O stain showed a worsening of the disc degeneration score at 2, 4, and 6 weeks in the injured group, but in the non-injured group there was no change. Percutaneous needle injury technique with our novel tool provided 100% accuracy and uniform degeneration. CONCLUSIONS: A simple, easily reproducible mouse model for disc degeneration was created using a simple, cost-effective, novel tool and technique, its advantage being high precision and user friendly.

20.
Pediatr Neurol ; 112: 25-33, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-32911260

RESUMEN

BACKGROUND: Autopsy studies in Rasmussen encephalitis reveal areas of sparing within the affected hemisphere. Clinical progression and inflammation are milder with an older onset. We sought to demonstrate radiological corroboration for these patterns. METHODS: In our retrospective study, 38 cases were dichotomized into severe pan-hemispheric (all lobes involved) and sub-hemispheric groups (others) to identify age demographics and other severity predictors. The extent and patterns of radiological pathology in the cortex and subcortical structures were assessed by structured visual grading. Relevant clinical data were also reported. RESULTS: Children with pan-hemispheric involvement were younger at onset (P < 0.001) and were more likely to present with status epilepticus (odds ratio 8.5, 95% confidence interval 1.5 to 50.0, P = 0.022). A history of perinatal asphyxia/hospitalization (P < 0.001) and delayed milestones (P = 0.013) were encountered exclusively in this group, and progression to a low-amplitude record background on electroencephalography, suggesting that cortical damage was identified frequently (P = 0.038, odds ratio = 5.7, 95% confidence interval 1.3 to 25.0). Visual grading revealed significant differences among both cortical (P < 0.001) and subcortical (P < 0.001) regions. On multivariate analysis, the odds for pan-hemispheric disease decreased per year of age at onset (P = 0.022, odds ratio 0.51, 95% confidence interval 0.085 to 0.725). Epilepsy surgery (n = 14) was associated with Engel Class 1 seizure control (P < 0.001). Immunosuppressive therapy (n = 20) did not demonstrate a significant seizure remission (P = 0.157, odds ratio 0.39, 95% confidence interval 0.10 to 1.55). CONCLUSIONS: Our case series confirms the presence of specific topographical patterns of macroscopic radiological pathology over the affected hemisphere with a marked age-associated reduction in the odds for severe pan-hemispheric disease.


Asunto(s)
Corteza Cerebral , Encefalitis , Epilepsia , Edad de Inicio , Corteza Cerebral/diagnóstico por imagen , Corteza Cerebral/crecimiento & desarrollo , Corteza Cerebral/patología , Niño , Preescolar , Electroencefalografía , Encefalitis/diagnóstico , Encefalitis/patología , Encefalitis/fisiopatología , Epilepsia/diagnóstico , Epilepsia/fisiopatología , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Tomografía Computarizada por Rayos X
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