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Journal of Ayub Medical College, Abbottabad : JAMC最新文献

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Pulmonary Artery Pseudoaneurysm: A Post-Covid Complication. 肺动脉假性动脉瘤:一种术后并发症。
Q3 Medicine Pub Date : 2023-04-01 DOI: 10.55519/JAMC-02-10521
Sajida Shah, Zainab Malik, Khurram Khaliq Bhinder, Mariam Shah

We present a case report of a potentially lethal post-COVID complication. A 65-year-old male presented with shortness of breath and fever with chills. He had recently recovered from COVID pneumonia. Contrast enhanced CT scan chest gave the suspicion of pulmonary pseudoaneurysm. CT aortogram revealed a well-defined rounded mass in the right lung mainly occupying the lower lobe of the right lung. Angiography through the right common femoral vein was performed and it confirmed a huge pseudoaneurysm arising from the posteromedial branch of the right descending interlobar artery. As the artery was not found suitable for endovascular embolization, the patient was referred to a thoracic surgeon.

我们报告了一例可能致命的新冠肺炎后并发症。一名65岁男性,表现为呼吸急促、发烧伴寒战。他最近从新冠肺炎中康复。胸部CT增强扫描怀疑为肺假性动脉瘤。CT主动脉图显示右肺有一个明确的圆形肿块,主要位于右肺下叶。通过右股总静脉进行血管造影,证实右叶间降动脉后内侧支出现巨大假性动脉瘤。由于发现该动脉不适合血管内栓塞,患者被转诊至胸部外科医生。
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引用次数: 0
Snodgrass Hypospadias Repair At Ayub Teaching Hospital: An Audit Of Complications And Outcomes. Ayub教学医院的Snodgrass尿道下裂修补术:并发症和结果的审计。
Q3 Medicine Pub Date : 2023-04-01 DOI: 10.55519/JAMC-02-11003
Shawana Asad, Fawad Ahmed Khan, Sher Ali, Hafizullah Khan, Hina Rafaqat, Irfan Ud Din Khattak

Background: There are many reported techniques for the repair of hypospadias, and new ones are being reported, which suggests that none is perfect. This study reports the anatomical success rate when using Snodgrass Technique.

Methods: In this descriptive case series, 296 patients who fulfilled the inclusion criteria, by being treated by Snodgrass urethroplasty, were enrolled. The study was conducted at the Department of Surgery, Unit-C, MTI, Ayub Teaching Hospital Abbottabad between May 2008 and June 2021.

Results: Mean age of the patients was 2.4±.8 years, 79.7% (n=236) had anterior (glanular, coronal, sub coronal) meatal location and 20.3 % (n=60) had middle urethral meatus (distal & mid-shaft). The mean operative time was 52 min. 5.1% of patients developed neo-meatal stenosis (n=15), 7.1% (n=21) patients develop a urethral cutaneous fistula (compared to 5% in larger centers, 16% from smaller centers), 11.8% (n=35) developed wound infection, 2% (n=6) had complete disruption. The cosmetic appearance of the penis was "excellent"/good (shape of meatus was slit-like and vertically oriented) in 60.1% (n=178) patients, "acceptable" in 30.1% (n=89), and "not acceptable" in 9.8% (n=29).

Conclusions: Snodgrass technique has a low complication rate, offers an acceptable cosmetic outcome and can be successfully applied to a wide range of defects from distal to mid-shaft hypospadias. Common complications include urethral-cutaneous fistula and meatal stenosis; both occur in a low and acceptable number of patients.

背景:关于尿道下裂修复的技术有很多报道,新的技术也在不断被报道,这表明没有一种是完美的。本研究报告了Snodgrass技术在解剖上的成功率。方法:在这个描述性病例系列中,296例患者符合纳入标准,接受Snodgrass尿道成形术治疗。该研究于2008年5月至2021年6月在阿伯塔巴德Ayub教学医院MTI c单元外科部进行。结果:患者平均年龄2.4±。8年,79.7% (n=236)的患者有前尿道道(腺状、冠状、冠状下),20.3% (n=60)的患者有中尿道道(远端和中轴)。平均手术时间为52分钟。5.1%的患者出现新尿道狭窄(n=15), 7.1% (n=21)的患者出现尿道皮瘘(大中心为5%,小中心为16%),11.8% (n=35)的患者出现伤口感染,2% (n=6)的患者完全破裂。60.1% (n=178)的患者阴茎美容外观为“极好”/良好(阴茎道形状呈裂隙状,垂直方向),30.1% (n=89)为“可接受”,9.8% (n=29)为“不可接受”。结论:Snodgrass技术并发症发生率低,具有良好的美容效果,可成功应用于从远端到中轴尿道下裂的各种缺损。常见的并发症包括尿道-皮瘘和金属狭窄;这两种情况都发生在少量且可接受的患者中。
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引用次数: 0
Defining Normal Reference Range For The Cross Sectional Area Of The Median Nerve At The Wrist And Forearm Using High-Resolution Ultrasonography In Asymptomatic Pakistani Adults. 使用高分辨率超声检查确定巴基斯坦无症状成人手腕和前臂正中神经横截面积的正常参考范围。
Q3 Medicine Pub Date : 2023-04-01 DOI: 10.55519/JAMC-02-11504
Rashed Nazer, Maria Rauf, Farheen Raza, Belqees Yawar Fiaz, Madiha Saeed Wahla, Raheela Aqeel

Background: Carpal tunnel syndrome (CTS) can be diagnosed easily on ultrasonography (USG); which is a cheap, non-invasive and readily available modality. However, there is wide normal variation in the normal values of cross-sectional area (CSA) of median nerve among different populations; therefore, its necessary to establish a normal range of variability in median nerve dimensions in different populations.

Methods: A total of 500 asymptomatic patients i.e., 1000 median nerves were evaluated at the distal wrist crease and mid-forearm by 3 expert radiologists independently. All patients having a positive nerve conduction study or history of carpal tunnel syndrome and wrist trauma were excluded. Ultrasound was performed with a 7.5-15 MHz high-frequency linear probe. SPSS v 20 was used to analyze data.

Results: The study population had a mean age of 31.40±10.11 years with a female-to-male ratio of 1.36:1. Mean BMI was 22.15±4.34 Kg/m2 . The mean cross section area of the median nerve at the right wrist was calculated to be 6.8±1.96 mm2 and the left wrist was 6.6±1.96 mm2 . The mean median nerve cross-section area at the right mid-forearm was 5.3±1.46 mm2 and the left mid-forearm was 5.2±1.50 mm2 . A decrease in mean median nerve cross-section areas was noted by moving from wrist to forearm. Similarly, males showed higher median nerve CSA than females.

Conclusions: Mean median nerve cross-section area was found to be different from Western countries. This warrants the utilization of the data of the Pakistani population to establish our own normal reference range for median nerve cross-sectional area to avoid misdiagnoses.

背景:超声对腕管综合征(Carpal tunnel syndrome, CTS)诊断方便;这是一种廉价、无创且容易获得的方法。然而,不同人群正中神经横截面积正常值有广泛的正常差异;因此,有必要确定不同人群正中神经长度的正常变异范围。方法:对500例无症状患者,即1000条正中神经,由3名放射科专家独立评估腕远端皱褶和前臂中部。所有神经传导检查阳性或有腕管综合征和手腕外伤史的患者均被排除在外。超声采用7.5-15 MHz高频线性探头。采用SPSS v 20进行数据分析。结果:研究人群平均年龄为31.40±10.11岁,男女比例为1.36:1。平均BMI为22.15±4.34 Kg/m2。右腕正中神经平均横截面积为6.8±1.96 mm2,左腕平均横截面积为6.6±1.96 mm2。右前臂中正中神经横断面积平均为5.3±1.46 mm2,左前臂中正中神经横断面积平均为5.2±1.50 mm2。从腕向前臂移动时,平均正中神经横截面积减少。同样,男性的正中神经CSA高于女性。结论:中国的平均正中神经横截面积与西方不同。因此,有必要利用巴基斯坦人口的数据来建立我们自己的正中神经横截面积的正常参考范围,以避免误诊。
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引用次数: 0
Not So Innocent Indapamide. 不那么无辜的吲达帕胺。
Q3 Medicine Pub Date : 2023-04-01 DOI: 10.55519/JAMC-02-10426
Shayan Aziz, Satyan Rajbhandari

A 58-year-old asymptomatic man was referred by his general practitioner for abnormal blood results. Routine blood tests to monitor blood count and kidney functions showed neutropenia and hyponatremia. He was euvolemic on examination. A further detailed investigation did not reveal any cause of neutropenia and hyponatremia. After careful assessment of their drug history, it transpired he recently started Indapamide for uncontrolled hypertension. Hyponatraemia is a common side effect of Indapamide and in addition, it can rarely cause agranulocytosis and leukopenia. Indapamide was stopped and the blood counts started to improve and became normal after two weeks.

一名58岁无症状男子因血液结果异常由全科医生转诊。血常规检查监测血细胞计数和肾功能显示中性粒细胞减少症和低钠血症。他在考试中表现得很亢奋。进一步的详细调查没有发现中性粒细胞减少症和低钠血症的任何原因。在仔细评估了他们的用药史后,得知他最近开始使用吲达帕胺治疗不受控制的高血压。低钠血症是吲达帕胺常见的副作用,此外,它很少引起粒细胞缺乏症和白细胞减少症。停用吲达帕胺后,血液计数开始改善,两周后恢复正常。
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引用次数: 0
A New Association Of Guillain Barre Syndrome In A Patient With Central Nervous System Melioidosis. 格林-巴利综合征与中枢神经系统类melidosis患者的新关联。
Q3 Medicine Pub Date : 2023-04-01 DOI: 10.55519/JAMC-02-11470
Ewe Jin Koh, Kah Nian Tan, Zhi Wei Chan, Hoy Yan Candice Wong, Ming Lee Chin, Tiong Chan Lee

Burkholderia pseudomallei affecting the central nervous system has been extensively reported in the literature. However, combined central nervous system and peripheral nervous system involvement in melioidosis has never been reported. We report a 66-year-old man with diabetes mellitus who was diagnosed to have central nervous system melioidosis and developed acute flaccid quadriplegia. Nerve conduction studies and anti-ganglioside antibodies were consistent with Guillain-Barre syndrome. This case report highlights the importance to recognise the possibility of Guillain Barre syndrome complicating central nervous system melioidosis and stresses the urgency of early consideration of this complication, as early immunomodulatory therapy may hasten neurological recovery.

假性伯克霍尔德菌影响中枢神经系统已在文献中广泛报道。然而,类鼻疽合并中枢神经系统和周围神经系统的累及尚未见报道。我们报告一位66岁的糖尿病患者,他被诊断为中枢神经系统类鼻疽并发展为急性弛缓性四肢瘫痪。神经传导研究和抗神经节苷脂抗体与格林-巴利综合征一致。本病例报告强调了认识格林-巴利综合征并发中枢神经系统类鼻炎的可能性的重要性,并强调了早期考虑这种并发症的紧迫性,因为早期免疫调节治疗可能加速神经系统的恢复。
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引用次数: 0
Renal Tumours Of Non-Clear Cell Histology; 10 Years' Experience In A Specialized Centre. 非透明细胞组织学肾肿瘤的研究在专业中心工作10年。
Q3 Medicine Pub Date : 2023-04-01 DOI: 10.55519/JAMC-02-10703
Yasir Masood, Siddique Adnan, Shaukat Fiaz, Sheheryar Hanif, Zubair Ahmad Cheema, Khurram Mir

Background: Non-clear cell renal cell carcinomas are uncommon renal tumours with diverse histologically and genetically defined entities. Due to limited clinical outcomes data, no standardized management approach can be offered to these patients. This study aimed to analyse outcomes of non clear cell renal cell carcinoma after surgical resection of localized renal tumours in our population.

Methods: Patients with renal tumours who underwent partial or radical nephrectomy at the Department of Urology, from January 2010 to December 2019 were identified and evaluated, in terms of prevalence, presentation, recurrence, and survival outcome.

Results: Non-clear cell tumours were found in one-fourth of the total number of nephrectomies performed during this period for renal cell carcinoma (RCC). The mean age was 50.48±14.76 years (range 18-89 years) with 57% being of the male gender. The predominant types were chromophobe RCC, papillary RCC, and sarcomatoid RCC, in all non-clear cell renal tumours. Mean Recurrence Free Survival (RFS) for all tumours was 75.26±2.7 months. The projected 5 years RFS of papillary RCC, chromophobe RCC and sarcomatoid RCC were 94.2%, 84.3% and 62.5% respectively.

Conclusions: RCC of non-clear-cell histology depicts excellent survival in patients with localized renal tumours. Furthermore, sarcomatoid RCC has worse recurrence free survival followed by chromophobe RCC and papillary RCC, in our population subset.

背景:非透明细胞肾细胞癌是一种罕见的肾肿瘤,具有不同的组织学和遗传学特征。由于临床结果数据有限,无法为这些患者提供标准化的管理方法。本研究旨在分析我国人群局部肾肿瘤手术切除后非透明细胞肾细胞癌的预后。方法:对2010年1月至2019年12月在泌尿外科行部分或根治性肾切除术的肾肿瘤患者进行识别和评估,包括患病率、表现、复发和生存结果。结果:非透明细胞肿瘤在此期间肾细胞癌(RCC)手术总数的四分之一被发现。平均年龄50.48±14.76岁(18 ~ 89岁),男性占57%。在所有非透明细胞肾肿瘤中,主要类型为嫌色性肾细胞癌、乳头状肾细胞癌和肉瘤样肾细胞癌。所有肿瘤的平均无复发生存期(RFS)为75.26±2.7个月。乳头状RCC、憎色RCC和肉瘤样RCC的预测5年RFS分别为94.2%、84.3%和62.5%。结论:非透明细胞组织学的肾细胞癌在局部肾肿瘤患者中表现出良好的生存率。此外,在我们的人群中,肉瘤样RCC的无复发生存率较差,其次是憎色性RCC和乳头状RCC。
{"title":"Renal Tumours Of Non-Clear Cell Histology; 10 Years' Experience In A Specialized Centre.","authors":"Yasir Masood,&nbsp;Siddique Adnan,&nbsp;Shaukat Fiaz,&nbsp;Sheheryar Hanif,&nbsp;Zubair Ahmad Cheema,&nbsp;Khurram Mir","doi":"10.55519/JAMC-02-10703","DOIUrl":"https://doi.org/10.55519/JAMC-02-10703","url":null,"abstract":"<p><strong>Background: </strong>Non-clear cell renal cell carcinomas are uncommon renal tumours with diverse histologically and genetically defined entities. Due to limited clinical outcomes data, no standardized management approach can be offered to these patients. This study aimed to analyse outcomes of non clear cell renal cell carcinoma after surgical resection of localized renal tumours in our population.</p><p><strong>Methods: </strong>Patients with renal tumours who underwent partial or radical nephrectomy at the Department of Urology, from January 2010 to December 2019 were identified and evaluated, in terms of prevalence, presentation, recurrence, and survival outcome.</p><p><strong>Results: </strong>Non-clear cell tumours were found in one-fourth of the total number of nephrectomies performed during this period for renal cell carcinoma (RCC). The mean age was 50.48±14.76 years (range 18-89 years) with 57% being of the male gender. The predominant types were chromophobe RCC, papillary RCC, and sarcomatoid RCC, in all non-clear cell renal tumours. Mean Recurrence Free Survival (RFS) for all tumours was 75.26±2.7 months. The projected 5 years RFS of papillary RCC, chromophobe RCC and sarcomatoid RCC were 94.2%, 84.3% and 62.5% respectively.</p><p><strong>Conclusions: </strong>RCC of non-clear-cell histology depicts excellent survival in patients with localized renal tumours. Furthermore, sarcomatoid RCC has worse recurrence free survival followed by chromophobe RCC and papillary RCC, in our population subset.</p>","PeriodicalId":15141,"journal":{"name":"Journal of Ayub Medical College, Abbottabad : JAMC","volume":"35 2","pages":"231-234"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9799085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Responsiveness Of Childhood/Adolescent Chronic Myeloid Leukaemia Patients Of Pakistani Origin To Tyrosine Kinase Inhibitor. 巴基斯坦裔儿童/青少年慢性髓细胞白血病患者对酪氨酸激酶抑制剂的反应。
Q3 Medicine Pub Date : 2023-04-01 DOI: 10.55519/JAMC-02-11487
Syed Yar Muhammad Shah, Darakhshanda Nawaz, Aiman Usman Lodhi, Jawad Ur Rehman, Rehman Bahadar, Zaheer Ahmad, Faizan Banaras

Chronic myelogenous leukaemia is a disease in which bone marrow produces too many white blood cells. It is more common in middle age and its incidence is rare in children. Imatinib is the standard first-line treatment in chronic myeloid leukaemia. It improved the prognosis with lesser side effects. Our point of interest is to highlight its role in the paediatric age group. we present case series of a patient with chronic myeloid leukaemia responsive to imatinib. Because of the rare incidence of chronic myeloid leukaemia in this age room limited studies to explore the role of treatment modalities in the paeds group. Our case series highlights imatinib's effectiveness in treatment and improving the prognosis of the disease in this age group.

慢性粒细胞性白血病是一种骨髓产生过多白细胞的疾病。它在中年更常见,在儿童中发病率很低。伊马替尼是治疗慢性粒细胞白血病的标准一线药物。它改善了预后,副作用较小。我们感兴趣的是强调它在儿科年龄组中的作用。我们介绍了一个对伊马替尼有反应的慢性髓细胞白血病患者的病例系列。由于慢性髓细胞白血病在这个年龄段的发病率很低,探索治疗方式在paeds组中作用的研究有限。我们的病例系列强调了伊马替尼在治疗和改善该年龄组疾病预后方面的有效性。
{"title":"The Responsiveness Of Childhood/Adolescent Chronic Myeloid Leukaemia Patients Of Pakistani Origin To Tyrosine Kinase Inhibitor.","authors":"Syed Yar Muhammad Shah, Darakhshanda Nawaz, Aiman Usman Lodhi, Jawad Ur Rehman, Rehman Bahadar, Zaheer Ahmad, Faizan Banaras","doi":"10.55519/JAMC-02-11487","DOIUrl":"10.55519/JAMC-02-11487","url":null,"abstract":"<p><p>Chronic myelogenous leukaemia is a disease in which bone marrow produces too many white blood cells. It is more common in middle age and its incidence is rare in children. Imatinib is the standard first-line treatment in chronic myeloid leukaemia. It improved the prognosis with lesser side effects. Our point of interest is to highlight its role in the paediatric age group. we present case series of a patient with chronic myeloid leukaemia responsive to imatinib. Because of the rare incidence of chronic myeloid leukaemia in this age room limited studies to explore the role of treatment modalities in the paeds group. Our case series highlights imatinib's effectiveness in treatment and improving the prognosis of the disease in this age group.</p>","PeriodicalId":15141,"journal":{"name":"Journal of Ayub Medical College, Abbottabad : JAMC","volume":"35 2","pages":"313-315"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10185385","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mean Iop Change In Non-Glaucomatous Patients With Macular Edema Subsequently Intravitreal Injection Avastin. 非青光眼黄斑水肿患者玻璃体内注射阿瓦斯丁后平均眼压变化。
Q3 Medicine Pub Date : 2023-04-01 DOI: 10.55519/JAMC-02-11539
Adila Anwar, Ayyaz Hussain Awan, Anjum Imdad, Sufian Ali Khan, Mutahir Shah, Misbah Naeem

Background: The accumulation of fluid between the retinal layers is called retinal or macular oedema, while intraretinal oedema, or macular oedema, refers to fluid accumulation directly within the retina. The purpose of the study was to evaluate the effects of intravitreal injections of bevacizumab on intraocular pressure (IOP) in Non-Glaucomatous patients with Macular Oedema.

Methods: A pre-and post-interventional study was conducted. 220 patients were studied utilizing a non-probability, consecutive sampling method. Open Epi software was used to determine the sample size. The Department of Ophthalmology at Islamabad's Tertiary Care Hospital hosted the study, which lasted six months.

Results: The study's participants ranged in age from 30 to 60, with a mean age of 50.38±6.53 years. Male to female ratio of these 220 patients was 1:1.6, with 86 (39.09%) men and 134 (60.91%) women. The mean IOP at baseline was 11.57±1.42 mmHg, and the mean IOP one month after the injection was 12.81±1.18 mmHg, with a mean change in IOP of 1.24±0.87 mmHg.

Conclusions: This study found that non-glaucomatous patients with macular oedema experienced a high mean change in intraocular pressure (IOP) after intravitreal Avastin.

背景:视网膜层之间的液体积聚称为视网膜或黄斑水肿,而视网膜内水肿或黄斑水肿是指直接在视网膜内积聚液体。该研究的目的是评估玻璃体内注射贝伐单抗对非青光眼黄斑水肿患者眼压(IOP)的影响。方法:行介入前后研究。采用非概率连续抽样方法对220例患者进行了研究。采用Open Epi软件确定样本量。伊斯兰堡三级保健医院眼科主持了这项为期六个月的研究。结果:研究参与者年龄30 ~ 60岁,平均年龄50.38±6.53岁。220例患者男女比例为1:6 .6,其中男性86例(39.09%),女性134例(60.91%)。基线时平均IOP为11.57±1.42 mmHg,注射后1个月平均IOP为12.81±1.18 mmHg,平均IOP变化1.24±0.87 mmHg。结论:本研究发现,非青光眼黄斑水肿患者在玻璃体内注射阿瓦斯汀后,眼压(IOP)的平均变化较高。
{"title":"Mean Iop Change In Non-Glaucomatous Patients With Macular Edema Subsequently Intravitreal Injection Avastin.","authors":"Adila Anwar,&nbsp;Ayyaz Hussain Awan,&nbsp;Anjum Imdad,&nbsp;Sufian Ali Khan,&nbsp;Mutahir Shah,&nbsp;Misbah Naeem","doi":"10.55519/JAMC-02-11539","DOIUrl":"https://doi.org/10.55519/JAMC-02-11539","url":null,"abstract":"<p><strong>Background: </strong>The accumulation of fluid between the retinal layers is called retinal or macular oedema, while intraretinal oedema, or macular oedema, refers to fluid accumulation directly within the retina. The purpose of the study was to evaluate the effects of intravitreal injections of bevacizumab on intraocular pressure (IOP) in Non-Glaucomatous patients with Macular Oedema.</p><p><strong>Methods: </strong>A pre-and post-interventional study was conducted. 220 patients were studied utilizing a non-probability, consecutive sampling method. Open Epi software was used to determine the sample size. The Department of Ophthalmology at Islamabad's Tertiary Care Hospital hosted the study, which lasted six months.</p><p><strong>Results: </strong>The study's participants ranged in age from 30 to 60, with a mean age of 50.38±6.53 years. Male to female ratio of these 220 patients was 1:1.6, with 86 (39.09%) men and 134 (60.91%) women. The mean IOP at baseline was 11.57±1.42 mmHg, and the mean IOP one month after the injection was 12.81±1.18 mmHg, with a mean change in IOP of 1.24±0.87 mmHg.</p><p><strong>Conclusions: </strong>This study found that non-glaucomatous patients with macular oedema experienced a high mean change in intraocular pressure (IOP) after intravitreal Avastin.</p>","PeriodicalId":15141,"journal":{"name":"Journal of Ayub Medical College, Abbottabad : JAMC","volume":"35 2","pages":"249-252"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9809057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Multicentric Reticulohistiocytosis (Mrh): A Case Report On A Rare Destructive Arthritis. 多中心网状组织细胞增生症(Mrh):一例罕见的破坏性关节炎。
Q3 Medicine Pub Date : 2023-04-01 DOI: 10.55519/JAMC-02-9261
Saira Bano, Tayyeba Khursheed, Mohammad Khalid Bosan, Sadia Khurshid

Multicentric Reticulohistiocytosis is a rare disorder of unknown aetiology which affects skin and joints predominantly. There are no specific laboratory investigations for diagnosis. Diagnosis can be made clinically and on a histopathological basis. There is no consensus on treatment. We report a case from Pakistan with classical presentation who did well on methotrexate and low dose steroids. Prompt diagnosis and early treatment may save from significant disability.

多中心网状组织细胞增多症是一种罕见的疾病,病因不明,主要影响皮肤和关节。没有专门用于诊断的实验室调查。诊断可以在临床和组织病理学的基础上作出。目前对治疗方法尚无共识。我们报告一例来自巴基斯坦的经典表现,甲氨蝶呤和低剂量类固醇治疗效果良好。及时诊断和早期治疗可以避免严重的残疾。
{"title":"Multicentric Reticulohistiocytosis (Mrh): A Case Report On A Rare Destructive Arthritis.","authors":"Saira Bano,&nbsp;Tayyeba Khursheed,&nbsp;Mohammad Khalid Bosan,&nbsp;Sadia Khurshid","doi":"10.55519/JAMC-02-9261","DOIUrl":"https://doi.org/10.55519/JAMC-02-9261","url":null,"abstract":"<p><p>Multicentric Reticulohistiocytosis is a rare disorder of unknown aetiology which affects skin and joints predominantly. There are no specific laboratory investigations for diagnosis. Diagnosis can be made clinically and on a histopathological basis. There is no consensus on treatment. We report a case from Pakistan with classical presentation who did well on methotrexate and low dose steroids. Prompt diagnosis and early treatment may save from significant disability.</p>","PeriodicalId":15141,"journal":{"name":"Journal of Ayub Medical College, Abbottabad : JAMC","volume":"35 2","pages":"316-319"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10166717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Risk Loci For Chronic Obstructive Disease Reside On Chromosome 14: A Case-Control Study On The Pakistani Population. 慢性阻塞性疾病的危险位点位于14号染色体:巴基斯坦人群的病例对照研究
Q3 Medicine Pub Date : 2023-04-01 DOI: 10.55519/JAMC-02-11430
Peerzada Fawad Ullah Jan, Samra Kousar, Atif Mahmood, Sarooj Nadeem, Kausar Malik, Waqas Safir, Nodia Shujaat, Fahim Ullah Khan, Mariam Shahid

Background: Chronic Obstructive Pulmonary Disease (COPD), the third leading cause of death worldwide, is characterized by airflow limitation that can be due to abnormalities in the airway and/or alveoli. Genetic diagnosis at an early stage can be a key factor in the provision of accurate and timely treatment. Single Nucleotide polymorphisms (SNPs) are an important tool to study genetic association/ predisposition of the disease and have great potential to be diagnostic markers for early diagnosis of disease.

Methods: This case-control COPD association study was designed for the five SNPs residing on potential candidate genes (SERPINA1, SERPINA3, RIN3), to check whether these genes are involved in the genetic predisposition for COPD in the Pakistani population or not. The SNAPshot method was used to find out the risk alleles and haplotypes using ABI Genetic analyzer 3130. GeneMapper, Haploview and PLINK 1.9 software were used for analyzing the genotypes and haplotypes taking smoking exposure and gender as covariates.

Results: Two of the SNPs, rs4934 and rs17473 were found to be independently and significantly associated with COPD in our studied population whereas haplotype H1 for two SNPs, rs754388 and rs17473 (that are in high linkage disequilibrium), was found to be a significant risk factor for developing COPD symptoms.

Conclusions: SNP variants of SERPINA1 and SERPINA3 are significantly and independently associated with COPD in the local population of Pakistan.

背景:慢性阻塞性肺疾病(COPD)是全球第三大死亡原因,其特征是气道和/或肺泡异常导致气流受限。在早期阶段进行基因诊断是提供准确和及时治疗的关键因素。单核苷酸多态性(Single Nucleotide polymorphisms, SNPs)是研究该病遗传关联/易感性的重要工具,在该病的早期诊断中具有很大的潜力。方法:本病例对照COPD相关性研究设计了位于潜在候选基因(SERPINA1, SERPINA3, RIN3)上的5个snp,以检查这些基因是否参与巴基斯坦人群中COPD的遗传易感性。使用ABI遗传分析仪3130,采用SNAPshot方法寻找风险等位基因和单倍型。以吸烟暴露和性别为协变量,采用GeneMapper、Haploview和PLINK 1.9软件进行基因型和单倍型分析。结果:在我们的研究人群中,发现两个snp rs4934和rs17473与COPD独立且显著相关,而两个snp rs754388和rs17473的单倍型H1(高连锁不平衡)被发现是发生COPD症状的重要危险因素。结论:在巴基斯坦当地人群中,SERPINA1和SERPINA3的SNP变异与COPD显著且独立相关。
{"title":"Risk Loci For Chronic Obstructive Disease Reside On Chromosome 14: A Case-Control Study On The Pakistani Population.","authors":"Peerzada Fawad Ullah Jan,&nbsp;Samra Kousar,&nbsp;Atif Mahmood,&nbsp;Sarooj Nadeem,&nbsp;Kausar Malik,&nbsp;Waqas Safir,&nbsp;Nodia Shujaat,&nbsp;Fahim Ullah Khan,&nbsp;Mariam Shahid","doi":"10.55519/JAMC-02-11430","DOIUrl":"https://doi.org/10.55519/JAMC-02-11430","url":null,"abstract":"<p><strong>Background: </strong>Chronic Obstructive Pulmonary Disease (COPD), the third leading cause of death worldwide, is characterized by airflow limitation that can be due to abnormalities in the airway and/or alveoli. Genetic diagnosis at an early stage can be a key factor in the provision of accurate and timely treatment. Single Nucleotide polymorphisms (SNPs) are an important tool to study genetic association/ predisposition of the disease and have great potential to be diagnostic markers for early diagnosis of disease.</p><p><strong>Methods: </strong>This case-control COPD association study was designed for the five SNPs residing on potential candidate genes (SERPINA1, SERPINA3, RIN3), to check whether these genes are involved in the genetic predisposition for COPD in the Pakistani population or not. The SNAPshot method was used to find out the risk alleles and haplotypes using ABI Genetic analyzer 3130. GeneMapper, Haploview and PLINK 1.9 software were used for analyzing the genotypes and haplotypes taking smoking exposure and gender as covariates.</p><p><strong>Results: </strong>Two of the SNPs, rs4934 and rs17473 were found to be independently and significantly associated with COPD in our studied population whereas haplotype H1 for two SNPs, rs754388 and rs17473 (that are in high linkage disequilibrium), was found to be a significant risk factor for developing COPD symptoms.</p><p><strong>Conclusions: </strong>SNP variants of SERPINA1 and SERPINA3 are significantly and independently associated with COPD in the local population of Pakistan.</p>","PeriodicalId":15141,"journal":{"name":"Journal of Ayub Medical College, Abbottabad : JAMC","volume":"35 2","pages":"203-209"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9799080","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
期刊
Journal of Ayub Medical College, Abbottabad : JAMC
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