Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 106
Filtrar
Más filtros

Banco de datos
País/Región como asunto
Tipo del documento
Intervalo de año de publicación
1.
J Minim Access Surg ; 20(1): 96-101, 2024 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-38240385

RESUMEN

INTRODUCTION: Staging laparoscopy (SL) plays an important role in avoiding unnecessary non-therapeutic laparotomy in radiologically resectable hepatopancreaticobiliary (HPB) malignancy patients. The limitation of SL is to detect deep-seated malignancy. The addition of laparoscopic ultrasonography for identifying metastatic lesions or locally unresectable disease improves the diagnostic yield of SL. PATIENTS AND METHODS: This prospective, observational study was conducted in a single unit of the tertiary care centre between 2017 and 2019. All the patients of HPB malignancy who were radiologically resectable underwent SL and laparoscopic intraoperative ultrasonography. Metastatic disease patients were either underwent palliative bypass procedures or abandoned depending on the condition of the patient. Patients who had resectable disease underwent standard surgical procedures. RESULTS: Forty patients of HPB malignancy with potentially resectable on radiological imaging underwent SL and diagnostic ultrasonography. Out of 40, 21 patients had periampullary, 14 had carcinoma gallbladder and 5 patients had distal cholangiocarcinoma. Metastatic lesions were identified on laparoscopy in eight patients and the diagnostic yield of SL is 20%. Addition of laparoscopic ultrasonography identified one haemangioma which was false positive on laparoscopy and underwent the radical standard procedure. Four patients were unresectable so the procedure was abandoned and another three patients underwent a bypass procedure. CONCLUSION: Laparoscopic ultrasonography during SL can detect deep-seated metastatic lesions and decide the management in resectable disease.

2.
Acta Radiol ; 64(1): 387-394, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34913396

RESUMEN

Focal renal lesions in the background of chronic kidney disease (CKD) present a diagnostic challenge. Contrast administration is usually avoided in such a setting, undermining the usefulness of computed tomography and magnetic resonance imaging. Focal regenerating nodules may occur in the background of CKD and closely mimic renal neoplasms. The aim of the present article was to highlight the salient manifestations of such CKD pseudotumors on different imaging modalities and also to depict the differentiating features from malignancy. Radiologists must be aware of the imaging appearance of this uncommonly talked about entity so as to avoid inadvertent surgery or cause undue anxiety to the patient.


Asunto(s)
Neoplasias Renales , Insuficiencia Renal Crónica , Humanos , Riñón/diagnóstico por imagen , Riñón/patología , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/patología , Imagen por Resonancia Magnética , Insuficiencia Renal Crónica/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Medios de Contraste
3.
Acta Radiol ; 64(1): 172-186, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34851168

RESUMEN

A mass or a tumor may not always be an underlying cause for a clinically apparent swelling. A wide range of myotendinous disorders can present as pseudomasses. These include muscle/myofascial hernia, tendon tears, benign hypertrophy, accessory muscles, tendon xanthomas, diffuse myositis, and exertional compartment syndromes. We have briefly reviewed these lesions highlighting their typical radiological findings and have also highlighted the role of different imaging modalities and the role of dynamic imaging. Although rare, radiologists should be aware of these entities to avoid mislabeling a pseudomass as a mass or malignancy and to detect the abnormality in not-so-apparent masses.


Asunto(s)
Enfermedades Musculares , Miositis , Humanos , Imagen por Resonancia Magnética , Músculos
4.
Acta Radiol ; 64(2): 850-867, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-35300505

RESUMEN

The first part of this review article emphasized correct nomenclature, classification systems, and imaging algorithm of vascular anomalies. The second part of the review discusses the individual entities, highlighting the characteristic clinico-radiological features of the commonly encountered ones. A step-wise algorithmic approach is also proposed for the evaluation of a suspected case of vascular anomaly.


Asunto(s)
Malformaciones Vasculares , Humanos , Malformaciones Vasculares/diagnóstico por imagen , Diagnóstico por Imagen/métodos , Radiografía
5.
Acta Radiol ; 64(2): 837-849, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-35414244

RESUMEN

There is a lot of ambiguity in the usage of correct terminology in the description of vascular malformations and tumors. Hemangioma and arteriovenous malformation (AVM) are the most commonly used terms and are the mostly incorrectly used as well! The aim of this review article was to lay out the correct nomenclature and describe the correct usage for the physicians and radiologists involved in diagnosing and managing these lesions. We describe the various classification systems which have been devised to define the multiple entities included under vascular anomalies. The latest classification system that should be adhered to is per the International Society for the Study of Vascular Anomalies, approved at the 20th ISSVA Workshop held in Melbourne in April 2014, last revised in May 2018. The main features of the latest revision have been highlighted. This classification, however, does not list the diagnostic clinico-radiological features for each entity. In addition, guidelines regarding the appropriate use of available imaging modalities are lacking in the literature. We, hereby, aim to address these pertinent issues in this review article.


Asunto(s)
Malformaciones Arteriovenosas , Hemangioma , Malformaciones Vasculares , Humanos , Malformaciones Vasculares/diagnóstico por imagen , Hemangioma/diagnóstico por imagen , Malformaciones Arteriovenosas/diagnóstico por imagen , Diagnóstico por Imagen , Radiografía
6.
Acta Radiol ; 64(6): 2061-2073, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-36915965

RESUMEN

BACKGROUND: Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome associated with phosphaturic mesenchymal tumors (PMTs). Localization of the causative tumor in these cases is an arduous task since the culprit lesions are usually small, slow-growing, and can be located almost anywhere from head to toe. PURPOSE: To describe the morphological characteristics of histologically proven PMTs on various radiological modalities. MATERIAL AND METHODS: After institutional ethical approval, this retrospective study analyzed 20 cases with a histopathological evidence of PMT. Various imaging characteristics of the tumors on available computed tomography (CT) and magnetic resonance imaging (MRI) scans were evaluated. Descriptive statistical analyses were conducted. RESULTS: The tumors were located in diverse locations: lower extremities (n = 10); head and neck (n = 5); vertebral column (n = 3); pelvis (n = 1); and upper extremities (n = 1). Bone lesions seen on CT had variable morphology: sclerotic (n = 3/8, 37.5%); lytic (n = 3/8, 37.5%), and both lytic and sclerotic (n = 2/8, 25%) with presence of narrow zone of transition in all cases (n = 8/8) and amorphous internal matrix calcifications in 25% of cases (n = 2/8). Of the tumors, 68.4% (n = 13/19) were hypointense on T1 and all of them showed hyperintense signal on T2-weighted and STIR images (n = 19/19) and contrast enhancement (n = 16/16). Of the tumors, 66.7% (n = 6/9) showed restricted diffusion. DOTANOC PET/CT showed tumor uptake in all cases (n = 8/8). CONCLUSION: PMTs may have variable and non-specific tumor appearances on various imaging modalities. However, in an appropriate clinical scenario and a background of suggestive biochemical work-up, the radiologist should keep a high index of suspicion.


Asunto(s)
Síndromes Paraneoplásicos , Neoplasias de los Tejidos Blandos , Humanos , Tomografía Computarizada por Tomografía de Emisión de Positrones/métodos , Estudios Retrospectivos , Neoplasias de los Tejidos Blandos/patología , Síndromes Paraneoplásicos/diagnóstico por imagen , Síndromes Paraneoplásicos/complicaciones , Síndromes Paraneoplásicos/patología , Tomografía Computarizada por Rayos X/métodos
7.
Thorac Cardiovasc Surg ; 70(7): 589-595, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-35263793

RESUMEN

OBJECTIVES: The objective of this study was to present the procedural details and digital subtraction angiography (DSA) findings of perioperative chest-wall collateral embolization (PCCE) and compare intraoperative blood loss in patients of pulmonary aspergilloma (PA) undergoing lung resection with and without PCCE. MATERIALS AND METHODS: Since November 2017, we have performed PCCE in 17 patients (14 males, three females, age 34.41 ± 12.85 years) before surgery for PA (embolization group). Retrospective evaluation of these patients was done, DSA findings were noted, and perioperative parameters (surgical approach, extent of resection, operative time, blood loss, blood transfusion, morbidity grade, and length of post-operative stay) were compared with a comparative cohort of 24 patients of PA (21 males, three females, mean age 36.13 ± 12.58 years) who underwent thoracic surgery without PCCE (May 2013-November 2017) (control group) using the Mann-Whitney U test. RESULTS: A total of 55 arteries were embolized in 17 patients (mean 3.23 arteries per patient). Technical success could be achieved in all patients without any procedure-related complications. The most common arteries embolized were posterior intercostal arteries (29) followed by costocervical trunk (10), superior thoracic (8), lateral thoracic (5), and internal thoracic arteries (3). The mean blood loss was significantly lower in the embolization group compared with the control group (676.47 vs. 1,264.58 mL, p = 0.015). Within the embolization group, patients who underwent video-assisted thoracoscopic surgery had even lower blood loss compared with open surgery cases (466 vs. 887.50 mL, p-value = 0.046). CONCLUSION: PCCE is a simple and safe procedure, useful in reducing intra-operative blood loss in patients undergoing surgery for peripherally located PA.


Asunto(s)
Pérdida de Sangre Quirúrgica , Embolización Terapéutica , Adulto , Pérdida de Sangre Quirúrgica/prevención & control , Embolización Terapéutica/efectos adversos , Embolización Terapéutica/métodos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Cirugía Torácica Asistida por Video/efectos adversos , Cirugía Torácica Asistida por Video/métodos , Resultado del Tratamiento , Adulto Joven
8.
Surg Endosc ; 35(6): 3077-3084, 2021 06.
Artículo en Inglés | MEDLINE | ID: mdl-32556769

RESUMEN

BACKGROUND: With evolving technology, the focus of groin hernia repair has shifted to sexual function and fertility outcomes. METHODS: This three-arm randomized study was conducted in tertiary care hospital from 1st July 2017 to 30th March 2019. Consecutive patients of groin hernia were randomized into 3 groups, TAPP (Group 1), TEP (Group 2), and OMH (Group 3). Demographic profile and hernia characteristics were assessed preoperatively. Sexual functions (using BMSFI) and fertility (using surrogate fertility indices, viz., semen analysis and anti-sperm antibodies (ASA)) were assessed preoperatively at 3 months after the surgery. RESULTS: A total of 121 patients were included in the study with 41 patients in TAPP (Group 1) and 40 each in TEP (Group 2) and OMH (Group3) group. All the 3 groups were comparable in terms of demographic profile, hernia characteristics, intra-operative and early post-operative outcomes. Significant improvement was found in most of the domains of BMSFI score in the study population (p value < 0.001) with no intergroup difference. There was significant increase of anti-sperm antibody level in OMH group as compared to TAPP and TEP (p = 0.001), however, the levels were within normal limit. CONCLUSIONS: In conclusion, this study has shown that inguinal hernia repair whether open or laparoscopic (TEP or TAPP) leads on to improvement in sexual functions and fertility indices and can have a significant impact on pre-op counseling of the patient in terms of choice of repair, depending on the available expertise in a given center.


Asunto(s)
Hernia Inguinal , Laparoscopía , Fertilidad , Ingle , Hernia Inguinal/cirugía , Herniorrafia/efectos adversos , Humanos , Mallas Quirúrgicas , Resultado del Tratamiento
9.
J Ultrasound Med ; 40(9): 1771-1783, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-33184930

RESUMEN

OBJECTIVES: To evaluate the various quantitative parameters of Doppler ultrasound, contrast-enhanced ultrasound (CEUS), and shear wave elastography (SWE) of graft kidneys in the early postoperative period and to explore their utility in the diagnosis of parenchymal causes of graft dysfunction. METHODS: In this ethically approved study, consecutive patients who underwent renal transplantation from March 2017 to August 2018 were recruited, and those with urologic or vascular complications and those who denied consent were excluded. All patients underwent ultrasound with Doppler, SWE, CEUS (using sulfur hexafluoride), and renal scintigraphic examinations 3 to 10 days after transplantation. A composite reference standard was used, including the clinical course, renal function test results, urine output, and histopathologic results for graft dysfunction. Cortical SWE values, quantitative CEUS parameters (generated from a time-intensity curve), and their ratios were analyzed to identify graft dysfunction and differentiate acute tubular necrosis (ATN) from acute rejection (AR). RESULTS: Of the 105 patients included, 19 developed graft dysfunction (18.1%; 12 ATN, 5 AR, and 2 drug toxicity) in the early postoperative period. The peak systolic velocity in the interpolar artery showed a significant difference between control and graft dysfunction groups (P < .001) as well as between ATN and AR (P = .019). Resistive indices and SWE did not show significant differences. Ratios of the time to peak showed a significant difference between control and graft dysfunction groups (P < .05). The rise time and fall time of the large subcapsular region of interest and the rise time ratio were significantly different between ATN and AR (P = .03). CONCLUSIONS: Contrast-enhanced ultrasound can be used to diagnose parenchymal causes of early graft dysfunction with reasonable diagnostic accuracy.


Asunto(s)
Rechazo de Injerto , Trasplante de Riñón , Rechazo de Injerto/diagnóstico por imagen , Humanos , Riñón/diagnóstico por imagen , Riñón/fisiología , Periodo Posoperatorio , Ultrasonografía
10.
Waste Manag Res ; 37(1): 102-107, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-30198399

RESUMEN

The growth in manufacturing activities for economic development is putting a lot of pressure on the environment. One such impact is due to generation of waste from hazardous material. The best way for hazardous waste management is either elimination or substitution with non-hazardous material. The case study in the present paper is focused on the problem of hazardous waste reduction in absence of non-hazardous substitution. In absence of any non-hazardous substitute of hazardous material, waste generation can be reduced using improvement techniques such as Kaizen to improve the manufacturing process. An Indian company improved the manufacturing procedure with very low cost to reduce waste generation of hazardous material. The outcome of this Kaizen project is the reduction of waste by 13.8% at very low cost. Along with waste reduction, cost saving, and other resource savings are another benefits. This case study provides insight about the use of Kaizen for environmentally sustainable manufacturing.


Asunto(s)
Residuos Peligrosos , Administración de Residuos , India
13.
Acta Radiol ; 56(7): 881-9, 2015 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-24938664

RESUMEN

BACKGROUND: The role of dual-energy computed tomography (DECT) in characterization of urinary calculi is evolving and literature regarding differentiation of calcium calculi is sparse and confounding. PURPOSE: To evaluate the capability of DECT in assessing the urinary calculi composition in vivo, especially in differentiating various types of calcium calculi. MATERIAL AND METHODS: One hundred and twenty patients underwent DECT for characterization of urinary calculi. Seventy patients with 114 calculi, including 93 calcium stones, were retrospectively analyzed. DE ratios and attenuation differences were compared using ANOVA and receiver-operating-characteristic (ROC) analysis was done to predict cut-off values, in particular for detecting calcium-oxalate-monohydrate (COM) stones. RESULTS: DE ratio ≤1.14 accurately detected uric acid calculi, ≥1.29 was definitive for calcium and intermediate values were characteristic of cystine stones. DE ratios were significantly different between group 1 (COM [n = 32]; mean 1.376 ± 0.041), group 2 ([calcium oxalate dihydrate (COD) + COM] [n = 51]; 1.416 ± 0.048), and group 3 ([carbonate apatite (CaP) + COD + COM] [n = 10]; 1.468 ± 0.038) (group 1 vs. 2, P = 0.001; 1 vs. 3, P = 0.000; 2 vs. 3, P = 0.004). More importantly, pure COM calculi (group 1) had significantly lower DE ratio compared with mixed calcium calculi (groups 2 and 3) (P = 0.000). Attenuation differences (between low and high kV images) could not distinguish between COM and mixed calculi. ROC analysis for detection of COM calculi yielded AUC of 0.770 with cut-off DE ratio 1.385 (sensitivity 65.6%, specificity 82%) and value <1.335 was seen only with COM calculi (100% specificity). CONCLUSION: DECT can be employed for in vivo differentiation of various types of calculi and for detection of relatively lithotripsy-resistant COM calculi.


Asunto(s)
Tomografía Computarizada por Rayos X/métodos , Cálculos Urinarios/diagnóstico por imagen , Adulto , Análisis de Varianza , Femenino , Humanos , Riñón/diagnóstico por imagen , Masculino , Curva ROC , Reproducibilidad de los Resultados , Estudios Retrospectivos , Sensibilidad y Especificidad
14.
Postgrad Med J ; 95(1127): 514, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31229993
15.
J Obstet Gynaecol Res ; 40(1): 271-4, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24033740

RESUMEN

Abnormal uterine bleeding in the postabortal period requires meticulous diagnostic work-up to decide proper management. Imaging modalities including Doppler sonography and magnetic resonance imaging in concert with clinical and laboratory findings are useful to narrow the differential diagnoses but are not definitive. Presence of increased uterine vascularity and arteriovenous shunting is non-specific and can be detected in a variety of conditions including retained trophoblastic tissue, gestational trophoblastic disease, arteriovenous malformation (AVM), placental polyp and vascular neoplasm. We present here a case of a multiparous woman with unexplained postabortal bleeding posing a diagnostic challenge. Excluding the possibility of AVM before attempting dilatation and curettage in such a clinical scenario is crucial to prevent catastrophic bleeding.


Asunto(s)
Aborto Incompleto/cirugía , Dilatación y Legrado Uterino/efectos adversos , Neovascularización Patológica/diagnóstico , Complicaciones Posoperatorias/diagnóstico , Enfermedades Uterinas/diagnóstico , Útero/irrigación sanguínea , Adulto , Malformaciones Arteriovenosas/diagnóstico , Malformaciones Arteriovenosas/patología , Malformaciones Arteriovenosas/fisiopatología , Medios de Contraste , Femenino , Humanos , Angiografía por Resonancia Magnética , Neovascularización Patológica/patología , Neovascularización Patológica/fisiopatología , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/patología , Complicaciones Posoperatorias/fisiopatología , Embarazo , Arteria Uterina/patología , Enfermedades Uterinas/patología , Enfermedades Uterinas/fisiopatología , Hemorragia Uterina/etiología , Útero/patología , Venas/patología
16.
Stem Cell Res Ther ; 15(1): 140, 2024 May 14.
Artículo en Inglés | MEDLINE | ID: mdl-38745184

RESUMEN

BACKGROUND: Perianal fistulas (PF) affect one-third patients with Crohn's disease (CD) with limited therapeutic options. There is dearth of literature on safety and efficacy of bone marrow-derived mesenchymal stromal cells (BMSCs) in this population. METHODS: An open-label, phase I/II, single-arm study was conducted involving local administration of human allogeneic bone marrow-derived mesenchymal stromal cells in perianal fistula of patients with Crohn's disease refractory to standard therapies. Clinical severity and biomarkers were assessed at baseline and periodically until week 104 , and MRI at week 24 and 104. Primary and secondary objectives were to assess safety and efficacy respectively. Fistula remission was complete closure of fistula openings with < 2 cm perianal collection on MRI, and fistula response was decrease in drainage by ≥ 50%. Change in perianal disease activity index, quality-of-life and Van Assche index on MRI over time was assessed using mixed-effect linear regression model. RESULTS: Ten patients (male:8, mean age:27.4 ± 12.0years) were recruited. Self-resolving procedure-related adverse events occurred in three patients, with no follow-up adverse events. In intention to treat analysis at week 24, two patients (20%) achieved fistula remission and seven (70%) had fistula response. At week 52, two (20%) patients were in remission and seven (70%) maintained response. At 104 weeks, two (20%) patients maintained response and one (10%) was in remission. Statistically significant decrease in perianal disease activity index (P = 0.008), Van Assche Index (P = 0.008) and improvement in quality-of-life (P = 0.001) were observed over time. CONCLUSIONS: Allogeneic BMSCs are safe and effective for the treatment of perianal fistulizing CD with significant improvement in clinical severity and radiological healing. TRIAL REGISTRATION: The study was prospectively registered on Clinical trials registry - India (CTRI), CTRI/2020/01/022743 on 14 January 2020, http://ctri.nic.in .


Asunto(s)
Enfermedad de Crohn , Trasplante de Células Madre Mesenquimatosas , Células Madre Mesenquimatosas , Fístula Rectal , Humanos , Enfermedad de Crohn/complicaciones , Enfermedad de Crohn/terapia , Masculino , Adulto , Femenino , Trasplante de Células Madre Mesenquimatosas/métodos , Fístula Rectal/terapia , Fístula Rectal/etiología , Células Madre Mesenquimatosas/citología , Adulto Joven , Trasplante Homólogo/métodos , Adolescente , Persona de Mediana Edad , Imagen por Resonancia Magnética , Resultado del Tratamiento , Calidad de Vida
17.
Eur Radiol ; 23(1): 272-9, 2013 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-22797980

RESUMEN

OBJECTIVES: To evaluate the diffusion characteristics of inflammatory renal lesions and assess whether apparent diffusion coefficient (ADC) values can distinguish them from renal-cell carcinomas (RCCs). METHODS: Eighty-eight patients underwent multidetector computed tomography (MDCT), magnetic resonance imaging (MRI) and diffusion-weighted (DW) MRI (at b values of 0 and 500 s/mm(2)) for characterisation of focal renal lesions. On retrospective evaluation, 15 patients had 20 inflammatory lesions and 33 patients had 36 RCCs. DW images were compared and receiver operating characteristic (ROC) curves were drawn to establish cut-off ADC values. RESULTS: All inflammatory lesions and 91.7% of RCCs showed restricted diffusion. DW images showed markedly restricted diffusion in fluid intensity areas of abscesses, whereas RCCs showed free diffusion in their cystic portions. Quantitatively, both abscesses and RCCs showed ADC values significantly lower than normal renal parenchyma [1.12 and 1.56 respectively vs 2.34 (× 10(-3) mm(2)/s) for normal kidney] (P < 0.0001 for both) and significantly different from each other (P < 0.0001). ROC analysis in differentiating inflammatory lesions and RCC revealed high sensitivity (100%) and specificity (78.1%) for cut-off ADC value of 1.41 (× 10(-3) mm(2)/s). CONCLUSIONS: Both abscess and RCC showed restricted diffusion, the former did so to a greater extent, distinctly in fluid components. Thus, ADC values provide an additional paradigm for characterisation of indeterminate renal lesions.


Asunto(s)
Carcinoma de Células Renales/diagnóstico , Imagen de Difusión por Resonancia Magnética/métodos , Enfermedades Renales/diagnóstico , Absceso/diagnóstico , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Medios de Contraste , Diagnóstico Diferencial , Femenino , Humanos , Interpretación de Imagen Asistida por Computador , Imagenología Tridimensional , Inflamación , Neoplasias Renales/diagnóstico , Masculino , Meglumina/análogos & derivados , Persona de Mediana Edad , Compuestos Organometálicos , Estudios Prospectivos , Curva ROC , Estudios Retrospectivos , Sensibilidad y Especificidad , Tomografía Computarizada por Rayos X
20.
Ecancermedicalscience ; 17: 1550, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37377684

RESUMEN

Li Fraumeni syndrome (LFS) is an inherited cancer predisposition syndrome due to TP53 gene mutation. There is sparse literature on LFS in the Indian population. We conducted a retrospective study of patients diagnosed with LFS and their family members, registered at our Medical Oncology Department between September 2015 and 2022. 9 LFS families consisted of 29 patients diagnosed currently or historically with malignancies including 9 index cases and 20 first or second-degree relatives. Of these 29 patients, 7 (24.1%) patients developed their first malignancy before the age of 18 years, 15 (51.7%) were diagnosed between 18and and 60 years, and 7 (24.1%) were diagnosed at age more than 60 years. A total of 31 cancers occurred among the families, including 2 index cases who had metachronous malignancies. Each family had a median of three cancers (range 2-5); sarcoma (n = 12, 38.7% of total cancers) and breast cancer (n = 6, 19.3% of total cancers) being the commonest malignancies. Germline TP53 mutations were documented among 11 patients with cancers and 6 asymptomatic carriers. Of these nine mutations, the most common types were missense (n = 6, 66.6%) and nonsense (n = 2, 22.2%), and the commonest aberration was replacement of arginine with histidine (n = 4, 44.4%). Eight (88.8%) families met either classical or Chompret's diagnostic criteria and two (22.2%) satisfied both. Two (22.2%) families fit the diagnostic criteria prior to onset of malignancy in the index cases but were untested till the index cases presented to us. Four mutation carriers from three families are undergoing screening as per the Toronto protocol. No new malignancies have been detected so far during the mean surveillance duration of 14 months. The diagnosis of LFS has socio-economic implications for patients and their families. Delay in genetic testing misses out a crucial window wherein asymptomatic carriers could initiate surveillance in a timely fashion. Greater awareness on LFS and genetic testing in Indian patients is warranted for better management of this hereditary condition.

SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA