Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Resultados 1 - 20 de 61
Filtrar
1.
BMC Med Educ ; 24(1): 737, 2024 Jul 09.
Artículo en Inglés | MEDLINE | ID: mdl-38982353

RESUMEN

BACKGROUND: The importance of including bioethics in the medical curricula has been recognized globally. Certain countries including Pakistan continue to lag behind although some developments have occurred recently. OBJECTIVES: The research aimed to provide a snapshot of bioethics education in undergraduate medical colleges in Karachi, Pakistan. The secondary objectives included identifying factors promoting or inhibiting integration of bioethics into the curriculum. METHODS: A two-pronged strategy was used to collect data including a website review of medical colleges, in existence for more than ten years, recognized by the Pakistan Medical and Dental Council (PMDC), the regulating body for undergraduate medical education in Pakistan. The other arm employed in-depth interviews with medical educationists in colleges fulfilling inclusion criteria. Data from the website was analyzed and presented as frequencies. Qualitative data was analyzed using content analysis method which involved coding of transcripts, multiple readings and arriving at subthemes and themes iteratively. RESULTS: Thirteen medical colleges were included for the website review, of which four were from public sector. Three medical colleges used the word "ethics" in their vision and mission statement and four had provided a detailed curriculum for ethics on their website. Thematic framework included four broad themes: 1) Need for Bioethics Education, 2) Current Status of Bioethics Education 3) Challenges in integration of bioethics in medical curriculum and 4) Recommendations for integration of bioethics in the Curriculum. Participants were in agreement that bioethics was important in development of future physicians. Participants identified various challenges, foremost being shortage of trained faculty, lack of institutional buy-in and overcrowded curriculum. CONCLUSION: The study identified sporadic inclusion of bioethics in undergraduate medical curricula, left to the discretion of individual institutions. Since Karachi is a cosmopolitan city, the findings may reasonably reflect the situation in other parts of the country. While bioethics is recognized as an important field, it will continue to remain an orphan subject in the curricula unless the regulatory and accreditation bodies make it compulsory for institutions to include ethics in their curricula.


Asunto(s)
Bioética , Curriculum , Educación de Pregrado en Medicina , Pakistán , Humanos , Bioética/educación , Investigación Cualitativa
2.
J Pak Med Assoc ; 73(3): 520-524, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36932753

RESUMEN

OBJECTIVE: To ensure competence of essential skills of final year medical students in clinical examination by identifying essential skills and by revisiting and practising them before the examination. Methods: The cross-sectional study was conducted at the Aga Khan University, Karachi, from February to November, 2019, and comprised final year medical students and internal examiners from various academic disciplines. An overview of the organisational context, exam structure and process was noted. RESULTS: There were 96 medical students. The four key areas highlighted were development of the list of essential skills across five years of undergraduate medical curriculum with consensus from all disciplines, student motivation for attendance in practice sessions, unfamiliarity of examiners with the assessment tool, and the need for capacity-building. The key areas were based on the feedback received from all the stakeholders, and post-hoc analysis. Conclusion: This form of assessment would enable a thorough analysis of the preparedness of the students to function as independent physicians as undifferentiated doctor at the start of their careers as interns, and improve the quality of subsequent exams based on feedback and suggestions of faculty and students.


Asunto(s)
Educación de Pregrado en Medicina , Estudiantes de Medicina , Humanos , Estudios Transversales , Curriculum , Examen Físico , Competencia Clínica
3.
Monaldi Arch Chest Dis ; 90(2)2020 Jun 09.
Artículo en Inglés | MEDLINE | ID: mdl-32512987

RESUMEN

Idiopathic pulmonary hemosiderosis (IPH) is a rare disease marked by alveolar bleeding and accumulation of hemosiderin in the lungs. Here we present three cases of IPH. The first case is of a 26-year-old male with anemia, hemoptysis and dyspnea. Bronchoscopy confirmed diffuse alveolar hemorrhage (DAH). A diagnosis of IPH was made after ruling out other causes of DAH and observing good response to steroids. The patient's condition improved with prednisolone and azathioprine. The second case is of 26-year-old female with severe anemia. Imaging suggested IPH and lung biopsy confirmed it. She died shortly afterwards. The third case is of a 7-year-old male with chronic anemia. CT was suggestive of IPH and lung biopsy confirmed the diagnosis. Later, patient developed posterior reversible encephalopathy syndrome (PRES). This patient is stable on azathioprine and prednisolone. We aim to emphasize the importance of considering IPH as a differential in patients with DAH or chronic anemia.


Asunto(s)
Anemia/etiología , Hemosiderosis/complicaciones , Enfermedades Pulmonares/complicaciones , Pulmón/patología , Adulto , Anemia/tratamiento farmacológico , Azatioprina/uso terapéutico , Biopsia , Broncoscopía/métodos , Niño , Enfermedad Crónica , Quimioterapia Combinada , Disnea/etiología , Femenino , Glucocorticoides/uso terapéutico , Hemoptisis/etiología , Hemosiderosis/diagnóstico , Hemosiderosis/patología , Humanos , Inmunosupresores/uso terapéutico , Enfermedades Pulmonares/diagnóstico , Enfermedades Pulmonares/patología , Masculino , Síndrome de Leucoencefalopatía Posterior/etiología , Prednisolona/uso terapéutico , Tomografía Computarizada por Rayos X/métodos , Resultado del Tratamiento , Hemosiderosis Pulmonar
4.
J Pak Med Assoc ; 70(9): 1516-1522, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-33040100

RESUMEN

OBJECTIVE: To evaluate the impact of humanities and social sciences curriculum in an undergraduate medical education programme. METHODS: The qualitative study was conducted from May 2016 to May 2017 at a private medical college in Karachi where humanities and social sciences subject is an art of the undergraduate curriculum as a 6-week module at the start of Year 1 of the five-year programme. Focus group discussions were held with students from all the five years as well as with faculty related to humanities and social sciences, basic sciences and their clinical counterparts. The views of alumni of the undergraduate programme who are now members of the faculty at the institution were also explored and semi-structured interviews were conducted with institutional academic leaders. MAXQDA software was used to identify the themes for analysis. RESULTS: Of the 50 participants, 27(54%) were students, 21(42%) were faculty members and 2(4%) were academic leaders. From the 11 sub-themes, 5 themes were identified: Expectations, Strengths, Challenges, Way forward, and Institutional role and responsibility. Faculty members perceived humanities and social sciences as encouraging creative and critical thinking, boosting students' confidence and positively impacting their behaviour. Student perception seemed to change as they progressed through the years and they appreciated its impact at different stages. CONCLUSIONS: The existing humanities and social sciences curriculum can be further strengthened by integrating contents throughout the five-year programme and continuing it as a longitudinal theme rather than limiting it to a one-time exposure at the start of the programme.


Asunto(s)
Educación de Pregrado en Medicina , Estudiantes de Medicina , Curriculum , Humanidades , Humanos , Ciencias Sociales
5.
Genet Mol Biol ; 4242(3): 526-542, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31188922

RESUMEN

Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer type globally and contributes significantly to burden of disease in South Asia. In Pakistan, HNSCC is among the most commonly diagnosed cancer in males and females. The increasing regional burden of HNSCC along with a unique set of risk factors merited a deeper investigation of the disease at the genomic level. Whole exome sequencing of HNSCC samples and matched normal genomic DNA analysis (n=7) was performed. Significant somatic single nucleotide variants (SNVs) were identified and pathway analysis performed to determine frequently affected signaling pathways. We identified significant, novel recurrent mutations in ASNS (asparagine synthetase) that may affect substrate binding, and variants in driver genes including TP53, PIK3CA, FGFR2, ARID2, MLL3, MYC and ALK. Using the IntOGen platform, we identified MAP kinase, cell cycle, actin cytoskeleton regulation, PI3K-Akt signaling and other pathways in cancer as affected in the samples. This data is the first of its kind from the Pakistani population. The results of this study can guide a better mechanistic understanding of HNSCC in the population, ultimately contributing new, rational therapeutic targets for the treatment of the disease.

6.
BMC Cancer ; 17(1): 349, 2017 05 19.
Artículo en Inglés | MEDLINE | ID: mdl-28526004

RESUMEN

BACKGROUND: Hybrid peripheral nerve sheath tumors (PNSTs) have been recognized recently and were first included in the 4th edition of World Health Organization (WHO) Classification of Tumors of Soft tissue and Bone, published in 2013. These tumors show combined features of more than one type of conventional benign peripheral nerve sheath tumors. The most common combinations are those of schwannoma/perineurioma followed by combinations of neurofibroma/schwannoma and neurofibroma/perineurioma. A detailed literature review of published cases is presented. We have discussed the types and etiology, epidemiology and sites of localization, gross and microscopic appearances and immunohistochemical features of hybrid PNSTs and association of these tumors with tumor syndromes. CASE PRESENTATION: We have included five cases which were diagnosed in our department as we believe that publication of these new cases is relevant for the improved understanding of these specific tumors. Four of our five patients were males, mean age was 24 years. There was wide variation in the location of these tumors. Mean size of excised tumors was 5.5 cms in the greatest dimensions. Three out of five cases represented hybrid schwannoma/perineurioma histologically. No significant nuclear atypia, mitotic activity or necrosis seen. All five cases were completely excised. All five patients are alive and well at the time of writing with no recurrence. CONCLUSION: Hybrid PNSTs are distinct tumors and are usually benign. However, rare case reports have described local recurrence and at least two recent case reports have described malignant transformation in these tumors. Further studies on large number of cases are required to determine the exact pathogenetic basis of these tumors.


Asunto(s)
Neoplasias de la Vaina del Nervio/patología , Neurilemoma/patología , Neurofibroma/patología , Adulto , Anciano , Biomarcadores de Tumor/genética , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasias de la Vaina del Nervio/epidemiología , Neoplasias de la Vaina del Nervio/etiología , Neoplasias de la Vaina del Nervio/genética , Neurilemoma/epidemiología , Neurofibroma/epidemiología
7.
J Ayub Med Coll Abbottabad ; 29(1): 162-164, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28712201

RESUMEN

Xanthogranulomatous inflammation is characterized by destruction of the tissues of the organ involved and replacement by chronic inflammatory cells such as lymphocytes, plasma cells, occasional neutrophils with or without multinucleated or Touton giant cells. Exact aetiology is not known but the theory of infection with organisms like Proteus, E coli, and Bacteroides fragilis is most popular. Xanthogranulomatous inflammation of the female genital tract is not common and usually involves the endometrium; however, xanthogranulomatous inflammation of the ovaries is a rare entity.


Asunto(s)
Granuloma/diagnóstico , Granuloma/etiología , Ooforitis/diagnóstico , Ooforitis/etiología , Xantomatosis/diagnóstico , Xantomatosis/etiología , Escherichia coli , Femenino , Células Gigantes , Granuloma/cirugía , Humanos , Inflamación , Persona de Mediana Edad , Ooforitis/cirugía , Xantomatosis/cirugía
8.
Pak J Med Sci ; 32(4): 911-6, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27648038

RESUMEN

OBJECTIVE: Aga Khan University, a private medical college, had a vision of producing physicians who are not only scientifically competent, but also socially sensitive, the latter by exposure of medical students to a broad-based curriculum. The objective of this study was to identify the genesis of broad-based education and its integration into the undergraduate medical education program as the Humanities and Social Sciences (HASS) course. METHODS: A qualitative methodology was used for this study. Sources of data included document review and in-depth key informant interviews. Nvivo software was utilized to extract themes. RESULTS: The study revealed the process of operationalization of the institutional vision to produce competent and culturally sensitive physicians. The delay in the establishment of the Faculty of Arts and Sciences, which was expected to take a lead role in the delivery of a broad-based education, led to the development of an innovative HASS course in the medical curriculum. The study also identified availability of faculty and resistance from students as challenges faced in the implementation and evolution of HASS. CONCLUSIONS: The description of the journey and viability of integration of HASS into the medical curriculum offers a model to medical colleges seeking ways to produce socially sensitive physicians.

9.
World Hosp Health Serv ; 51(1): 32-5, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26058290

RESUMEN

Improving health care quality in a resource constraint environment in an emerging economy that is in a hard-to-reach geographic terrain can become a challenge especially when it has to follow the international standard which AKHS, P envisions to implement across the nation in all of its health facilities. Healthcare of the nation is a responsibility which is shouldered by both the government and the private sector. Private-sector, however, remains under pressure as its resource size is limited and it remains subject to stringent regulation and quality control requirements regardless of whether it is in the remotest corner of the country where proper land routes are either lacking or not safe. This article shares the unique experience of AKHS, P in achieving ISO 9001:2008 International Quality Management System Certification. Particularly at one of the "world's highest valleys -situated at Gilgit Baltistan at an altitude of 13,083 ft. above sea level in Northern Pakistan. The experience was unique in terms of demonstrating and recording how a quality management system can be implemented in one of the most difficult to reach areas where compliance to international quality standards was previously unthinkable.


Asunto(s)
Servicios de Salud del Indígena/normas , Mejoramiento de la Calidad , Servicios de Salud Rural/normas , Humanos , Estudios de Casos Organizacionales , Pakistán
10.
Ann Diagn Pathol ; 18(1): 1-4, 2014 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-24090508

RESUMEN

Solitary bone cysts (SBCs) are benign, intraosseus, cystic lesions, which generally involve metaphysis of long bones during the period of skeletal immaturity. Histologic features are nonspecific, but identification of amorphous cementum-like material provides a significant diagnostic clue. This material is unique to SBC with reported frequency of 10% to 70% and has been described as an immature form of bone. We retrieved and reviewed 41 cases of SBC reported in the last 10 years. The ages of patients ranged from 4 to 64 years (mean, 16 years), with a male-to-female ratio of 3:1. Humerus and femur were the most common sites. Cementum-like matrix was observed in 26 cases (63.4%). This material was seen in different phases of deposition and progression, ultimately transforming into mature bone as seen in 4 cases. Cyst wall lining was observed in 70.7% of cases along with several other nonspecific histologic features including reactive bone formation, hemosiderin macrophages, hemorrhage, multinucleated giant cells, foamy macrophages, fibrin, cholesterol clefts, and granulation tissue. Cementum-like material in the wall of SBCs is a specific and fairly consistent finding of diagnostic significance in cases where cyst wall lining is deficient. We also histologically demonstrate, for the first time, transformation of cementum-like material into reactive and mature bone, which further validates the immature osteoid nature and finding of other authors.


Asunto(s)
Quistes Óseos/metabolismo , Quistes Óseos/patología , Cemento Dental/metabolismo , Cemento Dental/patología , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven
11.
J Pak Med Assoc ; 64(12 Suppl 2): S175-9, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25989772

RESUMEN

OBJECTIVE: To evaluate the clinico-pathological features and treatment options of chondromyxoid fibroma patients. METHODS: The retrospective study was conducted at the Aga Khan University Hospital (AKUH), Karachi, and comprised data of all cases of chondromyxoid fibroma of bone diagnosed between 1996 and 2013.The diagnosis had been made mostly histopathologically, but also included patients in whom preoperative incisional biopsies had been used. Histopathological and radiological findings along with various treatment options and follow-up was recorded on a proforma. RESULTS: Of the total 36 patients,14(39%) were females and 22(61%) were males, with an overall mean age ± of standard deviation 20.9 years ± 9.8 (range: 6-51 years). Diagnosis was made histopathologically in 27(75%) patients and biopsy was used in 9(25%) cases. The most common site of involvement was tibia in 16(44.4%). The main presenting symptom was pain in 30(83.3%) and/or swelling in 6(16.6%). Radiological examination revealed no foci of soft tissue involvement. Bizarre large atypical cells were seen in 14(39%) cases and osteoid formation in 2(5.5%), leading to extreme difficulty in diagnosis. Treatment options included wide resection and marginal excisionin 22(61%) cases, intra-lesional curettage in 14(39%). The mean ± standard deviation follow-up was 48.8 ± 40.2 months (range: 8-152 months). Follow-up details were available only for 19(53%) patients. Among them, recurrence occurred in 7(36.8%) patients. No functional loss developed after surgical treatment, but 3(16%) patients developed wound-site infection. CONCLUSIONS: Chondromyxoid fibroma is clinically and histopathologically rare and difficult to diagnose because of the absence of typical diagnostic features in every case.

12.
BMC Gastroenterol ; 13: 33, 2013 Feb 21.
Artículo en Inglés | MEDLINE | ID: mdl-23433429

RESUMEN

BACKGROUND: The aim was to investigate the reinfection rate of H. pylori during a follow-up period of 12 months in adults who had undergone eradication therapy. METHODS: One hundred-twenty patients; 116 with gastritis, 3 with duodenal ulcer and 1 gastric ulcer, were studied. Their mean age was 41±13 years (range 18-77) and male: female ratio of 2:1. H. pylori were cultured and antibiotic sensitivity was determined by Epsilometer test (E-test) for clarithromycin (CLR) and amoxicillin (AMX). Primers of urease C gene of H. pylori and Sau-3 and Hha I restriction enzymes were used for polymerase chain reaction-restriction fragment length polymorphism analysis (PCR-RFLP). 14C urea breath test (14C-UBT) was performed 4 weeks after the eradication therapy. The successfully treated patients were observed for 12 months with 14C-UBT to assess H. pylori status. If 14C-UBT was negative, it was repeated after every 12 weeks. If 14C-UBT was positive, endoscopy was repeated with biopsies. RESULT: The eradication therapy was successful in 102(85%) patients. Out of forty-seven H. pylori isolates cultured, clarithromycin sensitivity was present in 30(64%) and amoxicillin in 45(98%), respectively. Follow-up 14C-urea breath tests of all 102 patients who eradicated H. pylori remained negative up to 9 months. However, in 6 patients, the 14C-UBT confirmed recurrence at 12 months. The recurrence rate was 6%. CONCLUSION: A low rate of recurrence of H. pylori infection was found in patients with dyspeptic symptoms. H. pylori isolates demonstrated a high invitro clarithromycin resistance.


Asunto(s)
Antibacterianos/uso terapéutico , Claritromicina/uso terapéutico , Farmacorresistencia Bacteriana , Infecciones por Helicobacter/tratamiento farmacológico , Infecciones por Helicobacter/epidemiología , Helicobacter pylori , Adolescente , Adulto , Anciano , Amoxicilina/uso terapéutico , Femenino , Estudios de Seguimiento , Gastritis/microbiología , Helicobacter pylori/aislamiento & purificación , Humanos , Masculino , Persona de Mediana Edad , Pakistán/epidemiología , Úlcera Péptica/microbiología , Prevalencia , Recurrencia , Resultado del Tratamiento , Adulto Joven
13.
Heliyon ; 9(5): e16221, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-37251860

RESUMEN

Background: The occurrence of hybrid odontogenic lesions with two or more morphologically distinct components is a rare phenomenon and poses a diagnostic challenge. We aimed to study the clinical, radiological, and pathological features and behavior of hybrid odontogenic lesions, to enhance awareness about these rare lesions. Method: Hematoxylin and Eosin slides of hybrid odontogenic lesions diagnosed between January 01, 2012 and December 31, 2020, were reviewed. Demographic and radiological information were obtained from the patient's medical records. Results: 8 cases were diagnosed with a mean age of 19.1 years and male to female ratio of 1:1.7. Involvement of mandible was more common (n = 5) as compared to maxilla (n = 3). All patients presented with swelling for an average of 9.75 months (3-25 months) duration. Bleeding, loose teeth, pain and facial asymmetry were reported in 5,3, 3, and 2 cases, respectively. Radiologically, 7 cases were well demarcated, 75% cases (n = 6) were radiolucent, and average radiological size was 4.8 cm. All patients were managed with surgery alone. 5 cases (62.5%) underwent enucleation and curettage, while local excision, en-block resection and segmental mandibulectomy were performed in 1 case each. Histologically, ossifying fibroma/cemento-ossifyiong fibroma were the most lesion, occurring in 5 cases (62%), followed by giant cell granuloma like lesions (GCG) i.e., central and peripheral giant cell granuloma (n = 3), Adenomatoid Odontogenic tumor (AOT) (n = 2), and DC (n = 2), ameloblastic fibroma (AF) (n = 1), Ameloblastoma (n = 1), calcifying odontogenic cyst (COC) (n = 1), and complex odontoma (n = 1). No evidence of recurrence was noted after 4-99 months of surgery (mean: 32.9) in cases with available data (n = 7). Long-term complaints included facial asymmetry (n = 2) and pain (n = 1). Conclusion: Most hybrid odontogenic lesions affect young females in the second decade of life and commonly show COF and OF as hybrid components. A conservative approach to management appears adequate.

15.
BMJ Open ; 12(2): e059230, 2022 Feb 14.
Artículo en Inglés | MEDLINE | ID: mdl-35165116

RESUMEN

OBJECTIVES: To review the consent, recruitment and retention rates for randomised controlled trials (RCTs) funded by the UK's National Institute for Health Research (NIHR) and published in the online NIHR Journals Library between January 1997 and December 2020. DESIGN: Comprehensive review. SETTING: RCTs funded by the NIHR and published in the NIHR Journals Library. DATA EXTRACTION: Information relating to the trial characteristics, sample size, recruitment and retention. PRIMARY AND SECONDARY OUTCOME MEASURES: The primary outcome was the recruitment rate (number of participants recruited per centre per month). Secondary outcomes were the target sample size and whether it was achieved; consent rates (percentage of eligible participants who consented and were randomised) and retention rates (percentage of randomised participants retained and assessed with valid primary outcome data). RESULTS: This review identified 388 individual RCTs from 379 reports in the NIHR Journals Library. The final recruitment target sample size was achieved in 63% (245/388) of the RCTs. The original recruitment target was revised in 30% (118/388) of trials (downwards in 67% (79/118)). The median recruitment rate (participants per centre per month) was found to be 0.95 (IQR: 0.42-2.60); the median consent rate was 72% (IQR: 50%-88%) and the median retention rate was estimated at 88% (IQR: 80%-97%). CONCLUSIONS: There is considerable variation in the consent, recruitment and retention rates in publicly funded RCTs. Although the majority of (6 out of 10) trials in this review achieved their final target sample; 3 out of 10 trials revised their original target sample size (downwards in 7 out of 10 trials). Investigators should bear this in mind at the planning stage of their study and not be overly optimistic about their recruitment projections.


Asunto(s)
Publicaciones Periódicas como Asunto , Análisis Costo-Beneficio , Humanos , Consentimiento Informado , Publicaciones , Ensayos Clínicos Controlados Aleatorios como Asunto , Informe de Investigación
16.
BMJ Case Rep ; 14(4)2021 Apr 12.
Artículo en Inglés | MEDLINE | ID: mdl-33846182

RESUMEN

Tracheobronchopathia osteochondroplastica (TPO) is a rare disorder of the tracheopulmonary tree characterised by osseous and cartilaginous submucosal nodules projecting into the tracheal lumen, sparing the posterior tracheal membranous wall. Symptoms are non-specific and may include dry cough, hoarseness, dyspnoea, recurrent pneumonia and occasionally haemoptysis. A fibreoptic bronchoscopy showing multiple tracheal nodules followed by pathological biopsy is required to reach the final diagnosis. Here, we report two cases of TPO, both with history of biomass fuel exposure and almost similar clinical presentions with chronic cough, shortness of breath and intermittent haemoptysis. They both underwent fibreoptic bronchoscopy showing multiple tracheal nodules whose histopathological analysis showed the diagnosis of TPO. Both patients were treated conservatively and remained in good health afterwards. Physicians should be aware about the need of advanced surgical procedures including endotracheal stent placement in more severe cases.


Asunto(s)
Osteocondrodisplasias , Enfermedades de la Tráquea , Broncoscopía , Tos/etiología , Hemoptisis/etiología , Humanos , Osteocondrodisplasias/complicaciones , Osteocondrodisplasias/diagnóstico , Enfermedades de la Tráquea/diagnóstico , Enfermedades de la Tráquea/diagnóstico por imagen
17.
Pathol Res Pract ; 216(5): 152912, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-32147272

RESUMEN

AIM: Colorectal signet-ring cell carcinomas (SRCC) are highly malignant tumours with poor prognosis that disproportionately affect younger patients. There is growing evidence of a unique set of molecular features that separate SRCC from conventional colorectal adenocarcinoma. Identification of these distinct features may have diagnostic and prognostic significance for patients and families. CDH1, which encodes E-cadherin, a cell adhesion protein, is commonly mutated in gastric SRCC and our study aimed to identify whether CDH1 mutation was also a common phenomenon in colorectal SRCC. METHODS: DNA was extracted from formalin-fixed paraffin embedded tumour tissue, the CDH1 gene was analysed by next generation sequencing and the pathogenicity of mutations assessed in silico. Sections cut from the same blocks were immunostained to identify the presence of the E-cadherin protein. RESULTS: We found 8 CDH1 mutations that meet our inclusion criteria in seven of 11 samples. Of these, five (from four patients), were likely to be germline mutations. E-cadherin staining was absent or markedly reduced in all of the seven samples with CDH1 mutation. CONCLUSION: Our finding of CDH1 mutations in a proportion of signet-ring cell carcinomas and associated reduction in E-cadherin in these tumours supports previous findings of a role for mutation of this gene in the development of this disease. In addition, the finding of likely germline mutations suggests that a subset of these tumours may be familial. Loss of E-cadherin staining in the absence of CDH1 mutations however also suggests a role for environmental factors in a subset of these tumours.


Asunto(s)
Antígenos CD/genética , Cadherinas/genética , Carcinoma de Células en Anillo de Sello/genética , Neoplasias Colorrectales/genética , Adolescente , Adulto , Edad de Inicio , Femenino , Predisposición Genética a la Enfermedad/genética , Humanos , Masculino , Mutación , Adulto Joven
18.
BMC Gastroenterol ; 9: 87, 2009 Nov 20.
Artículo en Inglés | MEDLINE | ID: mdl-19930551

RESUMEN

BACKGROUND: Helicobacter pylori (H. pylori) infection is known to be associated with a spectrum of gastroduodenal diseases. We studied the association of H. pylori virulence markers cytotoxin-associated gene (cagA) and vacuolating associated cytotoxin gene (vacA) alleles in patients with non ulcer dyspepsia (NUD), gastric ulcer (GU), gastric carcinoma (GC) and duodenal ulcer (DU). METHODS: H. pylori infection established by both rapid urease test and histology were studied. The cagA and vacA allelic status was determined by polymerase chain reaction (PCR). Sequencing of vacA i1 and i2 PCR product was carried out. RESULTS: Two hundred and twenty-four patients were included, 141 (63%) were males with a mean age of 45 +/- 16, range 16-83 years. The virulence marker cagA was associated with GU in 20(63%) (p = 0.04), DU in 23(72%) (p = 0.003) and GC in 29(73%) (p = 0.001) compared to NUD in 51(42%). VacA s1am1 was associated with GU in 23(72%) (p = 0.001), DU in 17(53%) (p < 0.001) and GC in 23(58%) (p = 0.003) compared to NUD in 38(32%) while vacA s1bm1 was also associated with GU in 9(28%) (p = 0.001), DU in 12(37%) (p < 0.001) and GC 11(28%) (p < 0.001) compared to NUD in 13(11%), respectively. The diagnoses of GU in 21(66%), DU in 16(50%), GC in 20(50%) and NUD in 50(42%) were associated with moderately active chronic inflammation. CagA in 55(45%) (p = 0.037), vacA s1am1 in 51(51%) (P < 0.001), s1bm1 in 25(56%) (p = 0.002), s1am2 32(30%) (p < 0.001) and s1bm2 29(69%) (p = 0.004) were also associated with moderately active chronic inflammation. CONCLUSION: CagA was negative in majority of NUD patients with H. pylori infection. However, cagA was associated with peptic ulcer and GC. VacA allele's s1am1 and s1bm1 were associated with H. pylori associated diseases and inflammation.


Asunto(s)
Biomarcadores/análisis , Enfermedades Gastrointestinales/epidemiología , Infecciones por Helicobacter/epidemiología , Helicobacter pylori/patogenicidad , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Alelos , Antígenos Bacterianos/genética , Proteínas Bacterianas/genética , ADN Bacteriano/genética , Femenino , Enfermedades Gastrointestinales/metabolismo , Enfermedades Gastrointestinales/microbiología , Regulación Bacteriana de la Expresión Génica , Genotipo , Infecciones por Helicobacter/metabolismo , Infecciones por Helicobacter/microbiología , Helicobacter pylori/genética , Humanos , Masculino , Persona de Mediana Edad , Morbilidad , Pakistán/epidemiología , Reacción en Cadena de la Polimerasa , Estudios Retrospectivos , Virulencia , Adulto Joven
19.
J Coll Physicians Surg Pak ; 29(2): 145-149, 2019 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-30700354

RESUMEN

OBJECTIVE: To determine the correlation of trainee selection scores (TSS) with subsequent performance in anesthesiology trainees at a university hospital. STUDY DESIGN: Descriptive analytical study. PLACE AND DURATION OF STUDY: The Aga Khan University Hospital, Karachi, from August 2016 to January 2017. METHODOLOGY: Data were collected on 44 anesthesiology trainees completing their training between 2009 and 2015. TSS consisted of entrance test, final-year medical school scores, and interviews. Assessment included written tests, viva voce, and clinical assessment. Non-parametric Spearman rank correlation coefficient was computed to assess the relationship between scores. RESULTS: Weak correlation was found between TSS and overall assessment scores for first three years of training. Correlation of TSS with clinical component of assessment was weak throughout training, while it was moderately significant with cognitive component of assessment in third and fourth years of training. Correlation between interview scores and cognitive as well as clinical assessment was non-significant. TSS showed weak correlation with success in exit level examination. CONCLUSION: Correlation between overall TSS and assessment scores was weak for first three years of training, and becoming moderately positive in later years of training. Cognitive component of TSS had moderately positive correlation with cognitive assessment, but not with clinical performance. Anesthesiology training programmes need to strengthen their selection criteria; and development of structured interviews might prove useful. Future research should focus upon identifying most useful traits in selecting high performers in anesthesiology training.


Asunto(s)
Anestesiología/educación , Competencia Clínica , Educación de Postgrado en Medicina/métodos , Internado y Residencia , Adulto , Curriculum , Femenino , Humanos , Masculino , Pakistán , Selección de Paciente , Adulto Joven
20.
IJU Case Rep ; 2(1): 5-8, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-32743360

RESUMEN

INTRODUCTION: Non-Hodgkin's lymphomas are a heterogeneous group of malignancies in the lymphoid system and ureteric involvement by non-Hodgkin's lymphoma is very rare. CASE PRESENTATION: We present a 37-year-old male, presenting with lower urinary tract symptoms and right flank pain. Initially, he presented with lower urinary tract symptoms without having any evidence of urinary tract infection and was managed for nonspecific cystitis. His ureteral histopathology report indicated a diffused infiltration by malignant lymphoid cells and the final diagnosis revealed diffuse large B-cell lymphoma. His positron-emission tomography scan indicated stage 4 disease with skeletal involvement and he was then treated by rituximab, cyclophosphamide, liposomal doxorubicin, vincristine, and methylprednisolone chemotherapy. Later, he was also diagnosed with central nervous system lymphoma and died during his stay in the hospital. CONCLUSION: Primary diffuse large B-cell lymphoma of the ureter is extremely rare; however, it should be considered in the differential diagnosis for patients presenting with obstructive uropathy as its early detection is crucial for diagnostic and therapeutic treatment.

SELECCIÓN DE REFERENCIAS
Detalles de la búsqueda