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Segmental Absence of Intestinal Musculature: An Enticing Predicament. 节段性肠肌缺失:诱人的困境
Q3 Medicine Pub Date : 2024-11-01 DOI: 10.59556/japi.72.0734
Nitya Kaul, Rupinder Kaur, Vishesh Dhawan, Ayushi Kediya

Segmental absence of intestinal musculature (SAIM) was first identified as a cause of intestinal perforation and remains difficult to diagnose clinically. Diagnosing SAIM preoperatively can be difficult; however, detection during the surgical procedure may be feasible if gross observations reveal bowel alterations such as a thinned-out wall, signs of gangrenous changes, or adjacent bowel dilatation. A final diagnosis can be made with the help of histopathology, making it a gold standard. Even though this condition is more prevalent among newborns, only a handful of cases have been published in the literature, mentioning involvement of the older patients. Maintaining a high index of suspicion for this disease when dealing with cases of intestinal obstruction or perforation in children and adults is instrumental in facilitating swift diagnosis and prompt treatment, thus improving the patient's outcome. We, hereby, would like to add one more case report of a 4-year-old girl child presenting with this rare entity to the literature.

节段性肠肌缺失(SAIM)最早被认为是肠穿孔的原因之一,但在临床上仍然难以诊断。术前诊断 SAIM 可能比较困难;但是,如果大体观察发现肠壁变薄、坏疽病变迹象或邻近肠管扩张等肠道改变,在手术过程中就有可能发现 SAIM。组织病理学是最终诊断的金标准。尽管这种疾病在新生儿中较为常见,但文献中仅有少数病例提到年长患者也会受累。在处理儿童和成人肠梗阻或穿孔病例时,保持对这种疾病的高度怀疑有助于快速诊断和及时治疗,从而改善患者的预后。在此,我们希望在文献中再增加一例 4 岁女童患这种罕见疾病的病例报告。
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引用次数: 0
Association of Gait Impairment with Executive Dysfunction and Magnetic Resonance Imaging Brain Findings in Elderly Population. 老年人步态障碍与执行功能障碍和脑磁共振成像结果的关系
Q3 Medicine Pub Date : 2024-11-01 DOI: 10.59556/japi.72.0510
Bhawna Sharma, Mitul Kasundra

Objectives: The primary objective was to understand the association between gait impairment and executive dysfunction and magnetic resonance imaging (MRI) brain findings in the elderly Indian population. Also, we aimed to assess the association between executive dysfunction (ED) and MRI brain findings in the elderly Indian population. Materials and methods: This was a prospective observational study conducted in the Department of Neurology at a tertiary care facility in Northwest India for a duration of 1 year between October 2021 and September 2022. Results: Patients with hypertension [odds ratio (OR) 2.85, 95% confidence of interval (CI) 1.59-5.10], raised and/or deranged lipid profile (OR 2.19, 95% CI 1.12-4.30), serum creatinine (Sr. creatinine) (OR 2.16, 95% CI 1.85-2.53) and blood urea (OR 2.27, 95% CI 1.92-2.67) were at increased risk of ED. Smoking tobacco was associated with four times increased risk of ED (OR 3.98, 95% CI 2.18-7.26). Of the tests of frontal assessment battery (FAB), the strength of association was highest for motor Luria (OR 34.81, 95% CI 15.84-76.52), followed by the backward digit span test. Patients with ED had decreased step length, abnormal stride width, abnormal cadence, and decreased velocity. Regarding MRI brain findings, atrophy of the occipital lobe was associated with decreased step length; atrophy of the midbrain and cerebellar atrophy were associated with decreased stride width; and midbrain atrophy was associated with cadence. It was found that the basal ganglia and periventricular hyperintensity were associated with step length. Conclusion: The findings contribute to our understanding of the relationship between ED, brain structural changes, and gait abnormalities, highlighting the potential role of smoking, glycemic control (and related risk factors) and brain regions involved in gait control.

研究目的主要目的是了解印度老年人群中步态障碍和执行功能障碍与磁共振成像(MRI)脑部检查结果之间的关联。此外,我们还旨在评估印度老年人群中执行功能障碍(ED)与磁共振成像(MRI)脑部检查结果之间的关联。材料和方法:这是一项前瞻性观察研究,于 2021 年 10 月至 2022 年 9 月在印度西北部一家三级医疗机构的神经内科进行,为期一年。研究结果高血压[几率比(OR)2.85,95% 置信区间(CI)1.59-5.10]、血脂升高和/或异常(OR 2.19,95% CI 1.12-4.30)、血清肌酐(Sr. creatinine)(OR 2.16,95% CI 1.85-2.53)和血尿素(OR 2.27,95% CI 1.92-2.67)患者发生 ED 的风险增加。吸烟导致罹患 ED 的风险增加四倍(OR 3.98,95% CI 2.18-7.26)。在额叶评估电池(FAB)测试中,运动鲁里亚测试的相关性最高(OR 34.81,95% CI 15.84-76.52),其次是后向数字跨度测试。ED患者的步长减少、步幅异常、步调异常和速度降低。磁共振成像脑部发现,枕叶萎缩与步长减少有关;中脑和小脑萎缩与步幅减少有关;中脑萎缩与步幅有关。研究发现,基底节和脑室周围高密度与步长有关。结论研究结果有助于我们理解 ED、脑结构变化和步态异常之间的关系,突出了吸烟、血糖控制(及相关风险因素)和参与步态控制的脑区的潜在作用。
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引用次数: 0
Chronicles from the Nest: A Case of Psittacosis in India. 鸟巢纪事印度的鹦鹉热病例。
Q3 Medicine Pub Date : 2024-11-01 DOI: 10.59556/japi.72.0720
Jinal Soni, Pooja Khosla, Vinus Taneja, Manuj Sondhi

Psittacosis is a rare zoonotic disease caused by a gram-negative obligate intracellular bacterium Chlamydia psittaci, which is transmitted through contact with infected birds. It comprises approximately 1% of all community-acquired pneumonia cases. However, this can be just the tip of the iceberg pertaining to the lack of routine testing and awareness of this disease entity, thereby requiring a high index of suspicion for its diagnosis. We report a case of a 37-year-old male presenting with high-grade fever with chills, acute onset of dyspnea, dry cough, arthralgia, and myalgia which was not responding to broad-spectrum empirical antibiotics and supportive care. We started evaluating the patient as a case of pyrexia of unknown origin (PUO), but the fever workup turned out to be inconclusive. This prompted us to revisit the history. It was found that the patient owned a parrot that was sick for the last 15 days. The temporal correlation of the illness with a history of exposure made us suspect psittacosis, which was confirmed by treatment with doxycycline resulting in a drastic improvement in the patient's condition. By this, we want to highlight that history remains the time-tested guide for diagnosing and treating PUO.

鹦鹉热是一种罕见的人畜共患疾病,由一种革兰氏阴性强制性胞内细菌鹦鹉热衣原体引起,通过接触受感染的鸟类传播。这种疾病约占社区获得性肺炎病例的 1%。然而,这可能只是冰山一角,因为缺乏对这种疾病实体的常规检测和认识,因此在诊断时需要高度怀疑。我们报告了一例 37 岁男性患者的病例,患者表现为高热伴寒战、急性呼吸困难、干咳、关节痛和肌痛,对广谱经验性抗生素和支持性治疗无效。我们开始将患者作为不明原因发热(PUO)病例进行评估,但发热检查结果并不确定。这促使我们重新回顾病史。我们发现,患者饲养的鹦鹉在过去 15 天里一直生病。这种疾病与接触史在时间上的相关性使我们怀疑是鹦鹉热,并在使用强力霉素治疗后证实了这一点,结果患者的病情大有好转。我们希望借此强调,病史仍然是诊断和治疗 PUO 的行之有效的指南。
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引用次数: 0
Cutaneous Cytomegalovirus Ulcers in an Individual with Acquired Immunodeficiency Syndrome: A Case Report. 获得性免疫缺陷综合征患者的皮肤巨细胞病毒溃疡:病例报告。
Q3 Medicine Pub Date : 2024-11-01 DOI: 10.59556/japi.72.0736
Abdeali Ginwala, Sunil Gaikwad, Monika Pujari, Divya Patel, Vrushali Khirid, Sanjay Pujari

We report an unusual presentation of Cytomegalovirus (CMV) cutaneous perianal ulcerative lesion in a patient with severe immunosuppression. A 43-year-old male presented with perianal ulcer along with bleeding and pain while passing stools. On biopsy, the ulcer showed typical histopathological features of CMV infection with involvement of endothelial cells. The patient was treated with oral valganciclovir for CMV ulcer which showed significant improvement subsequently. After 2 weeks, antiretroviral therapy (ART) was reinitiated with Tenofovir disoproxil fumarate, Lamivudine, and Dolutegravir. A high index of suspicion should always be maintained for CMV cutaneous ulcers in individuals with advanced immunosuppression.

我们报告了一名患有严重免疫抑制的患者出现巨细胞病毒(CMV)皮肤肛周溃疡性病变的罕见病例。一名 43 岁的男性患者出现肛周溃疡,并伴有出血和排便时疼痛。活组织检查显示,溃疡具有典型的 CMV 感染组织病理学特征,内皮细胞受累。患者接受了口服缬更昔洛韦治疗 CMV 溃疡,随后病情明显好转。2 周后,重新开始使用富马酸替诺福韦二吡呋酯、拉米夫定和多罗替拉韦进行抗逆转录病毒治疗(ART)。对于晚期免疫抑制患者的巨细胞病毒皮肤溃疡,应始终保持高度怀疑。
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引用次数: 0
Gastrointestinal Tuberculosis: 8-year Experience from a Tertiary Care Hospital in North India. 胃肠道结核病:印度北部一家三级医院的 8 年经验。
Q3 Medicine Pub Date : 2024-11-01 DOI: 10.59556/japi.72.0725
Brij Sharma, Rajesh Sharma, Vineeta Sharma, Vishal Bodh, Rajesh Kumar, Neetu Sharma, Arunima Sharma

Introduction: Tuberculosis (TB) represents a significant communicable disease on a global scale. The clinical manifestations of abdominal TB frequently resemble those of various gastrointestinal disorders, potentially leading to delays in accurate diagnosis. Materials and methods: From January 2012 to December 2019, consecutive patients aged 12 years and older, diagnosed with gastrointestinal TB at a tertiary care center in North India, were enrolled. Demographic and clinical data, radiological imaging findings, gastrointestinal endoscopy results, and histopathological findings were meticulously recorded. Antitubercular treatment was administered, and gastrointestinal endoscopy was performed upon the completion of treatment. Results: During the study period, 234 patients with gastrointestinal tuberculosis were enrolled, of which 151 (64.5%) were male and 83 (35.5%) were female. The most common presenting symptoms included weight loss (94.9%), abdominal pain (85.9%), fever (51.7%), and diarrhea (30.8%). The ileocecal region was the most frequently affected site (76.1%), followed by segmental colonic TB (17.1%). The most common finding on computed tomography (CT) of abdomen was thickening of the bowel wall with/without local or mesenteric lymphadenopathy. The most common endoscopic lesions were ulcerations (82.0%) followed by nodularity (73.9%), deformed cecum and ileocecal valve (41.9%) and strictures (11.1%). Histopathological examination of endoscopic biopsy revealed, well-formed granulomas in 94 (40.2%), collection of epithelioid cells with Langhans giant cells in 66 (28.2%), and chronic nonspecific inflammatory changes in 74 (31.6%). All patients responded to the antitubercular treatment. Follow-up colonoscopy in 171 (73.1%) patients showed regression of lesions. Conclusion: Gastrointestinal tuberculosis (GiTb) presents with nonspecific symptoms such as weight loss, fever, and abdominal pain, with ileocecal region being most commonly involved. Gastrointestinal endoscopy shows ulceration, nodularity, and strictures as prominent findings. Histopathology and culture were helpful for making diagnosis in almost half of the patients with GiTb. Majority of the patients responded well to antitubercular treatment.

导言:结核病(TB)是全球范围内的一种重要传染病。腹部结核病的临床表现经常与各种胃肠道疾病相似,可能导致准确诊断的延误。材料与方法:从 2012 年 1 月至 2019 年 12 月,在印度北部的一家三级医疗中心连续收治了 12 岁及以上被诊断为胃肠道结核病的患者。详细记录了患者的人口统计学和临床数据、放射影像学检查结果、消化道内镜检查结果以及组织病理学检查结果。他们接受了抗结核治疗,并在治疗结束后进行了胃肠道内窥镜检查。研究结果研究期间共收治 234 名胃肠道结核患者,其中男性 151 人(64.5%),女性 83 人(35.5%)。最常见的症状包括体重下降(94.9%)、腹痛(85.9%)、发烧(51.7%)和腹泻(30.8%)。回盲部是最常受影响的部位(76.1%),其次是节段性结肠结核(17.1%)。腹部计算机断层扫描(CT)最常见的发现是肠壁增厚,伴有/不伴有局部或肠系膜淋巴结病变。最常见的内镜病变是溃疡(82.0%),其次是结节(73.9%)、盲肠和回盲瓣变形(41.9%)和狭窄(11.1%)。内镜活检的组织病理学检查显示,94 例(40.2%)患者出现形态良好的肉芽肿,66 例(28.2%)患者出现上皮样细胞与兰罕巨细胞聚集,74 例(31.6%)患者出现慢性非特异性炎症变化。所有患者对抗结核治疗均有反应。171例(73.1%)患者的后续结肠镜检查显示病变已经消退。结论胃肠道结核(GiTb)表现为非特异性症状,如体重减轻、发热和腹痛,回盲部最常受累。胃肠道内窥镜检查显示,溃疡、结节和狭窄是突出的发现。组织病理学和培养有助于对近一半的 GiTb 患者做出诊断。大多数患者对抗结核治疗反应良好。
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引用次数: 0
Management of Acute Pulmonary Embolism: A Review. 急性肺栓塞的处理:回顾。
Q3 Medicine Pub Date : 2024-11-01 DOI: 10.59556/japi.72.0737
Abhay Bhave, Harjit Dumra, Sandeep Bansal

Pulmonary embolism (PE) is an important cause of morbidity and mortalityespecially among hospitalized patients. Although the exact epidemiology of PE is not known in India, several studies have shown that it is missed and mismanaged not infrequently, leading to significant cardiovascular morbidity and mortality. Indian consensus for the diagnosis and treatment of acute PE has been previously published. Recent findings from studies including data available from Indian studies have expanded our knowledge with respect to the optimal diagnosis, assessment, and treatment of patients with PE and have been integrated into this review article. Acute PE patients should be stratified according to early mortality risk. Clinical measures, right ventricular (RV) dysfunction markers, and myocardial injury should be used to determine risk stratification. The clinical prediction criteria [pulmonary embolism severity index (PESI) and Hestia criteria] should be routinely used in emergency departments. Investigations, such as D-dimer, electrocardiogram (ECG), chest X-ray, routine labs, N-terminal pro B-type natriuretic peptide/brain natriuretic peptide (NT-ProBNP/BNP), troponin I or troponin T, heart-type fatty acid binding protein (H-FABP), echocardiography, lower limb compression ultrasonography (CUS), computed tomographic-pulmonary angiography (CTPA), ventilation-perfusion scintigraphy (V/Q scan), and pulmonary angiography should be appropriately selected in suspected cases of PE as per risk stratification. The main treatment in medical management of acute PE comprises anticoagulants and thrombolytics. According to current guidelines, oral anticoagulants such as warfarin are recommended to be started at the time of diagnosis together with unfractionated heparin (UFH), low-molecular-weight heparin (LMWH), or fondaparinux (all grade IA). Owing to their predictable bioavailability and pharmacokinetics, novel oral anticoagulants (NOACs) can be given at fixed doses without routine laboratory monitoring. Recurrence is not uncommon on cessation of therapy, and hence long-term anticoagulation may be required in selected cases. Strong positive evidence is available for the use of thrombolytics in the management of acute PE.

肺栓塞(PE)是导致发病和死亡的一个重要原因,尤其是在住院病人中。虽然印度尚不清楚肺栓塞的确切流行病学,但多项研究表明,肺栓塞被漏诊和误治的情况屡见不鲜,从而导致了严重的心血管疾病发病率和死亡率。印度此前已就急性 PE 的诊断和治疗达成共识。包括印度研究数据在内的最新研究结果扩展了我们对 PE 患者最佳诊断、评估和治疗的认识,并已纳入本综述文章。应根据早期死亡风险对急性 PE 患者进行分层。临床指标、右心室(RV)功能障碍指标和心肌损伤应用于确定风险分层。急诊科应常规使用临床预测标准[肺栓塞严重程度指数(PESI)和Hestia标准]。检查项目包括 D-二聚体、心电图(ECG)、胸部 X 光片、常规实验室检查、N 端前 B 型钠尿肽/脑钠尿肽(NT-ProBNP/BNP)、肌钙蛋白 I 或肌钙蛋白 T、心脏型脂肪酸结合蛋白(H-FABP)、超声心动图、对于 PE 疑似病例,应根据风险分层适当选择下肢加压超声波检查(CUS)、计算机断层扫描-肺血管造影术(CTPA)、通气-灌注闪烁扫描(V/Q 扫描)和肺血管造影术。急性 PE 的内科治疗主要包括抗凝药物和溶栓药物。根据目前的指南,建议在确诊时开始使用华法林等口服抗凝剂,以及非分叶肝素(UFH)、低分子量肝素(LMWH)或磺达肝癸(均为IA级)。新型口服抗凝剂(NOACs)的生物利用度和药代动力学可预测,因此可按固定剂量服用,无需进行常规实验室监测。停止治疗后复发的情况并不少见,因此在特定病例中可能需要长期抗凝治疗。在急性 PE 的治疗中使用溶栓药物有很强的正面证据。
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引用次数: 0
Green Urine. 绿色尿液
Q3 Medicine Pub Date : 2024-11-01 DOI: 10.59556/japi.72.0738
Meenaxi Sharda, Yogesh Kumar Bareth, Setu Jain, Nisa S Thomas, Dheeraj Krishna

A 42-year-old chronic alcoholic, nondrug addict male patient with a normal sexual and marital history was brought by relatives to the emergency department of Government Medical College, Kota. He had gradually increasing yellow discoloration of eyes and body for 7 days, progressively worsening altered sensorium for 4 days, up to the extent of not being able to recognize family members for the last 2 days. There was no history of any drug intake. On examination, vitals were in the normal range with blood pressure (BP) 130/80 mm Hg, pulse rate (PR) 80/min, peripheral oxygen saturation (SpO2) 98% at room air, no pallor, and deep icterus was present. The patient was irritable, disoriented, semiconscious, and not responding to commands. Bilateral plantar reflex was extensor. P/A examination showed generalized distension and nontender 4 cm firm hepatomegaly.

科塔政府医学院急诊科收治了一名 42 岁的男性患者,长期酗酒,无毒瘾,性史和婚姻史正常。7 天来,他的眼睛和身体逐渐变黄,4 天来感觉改变逐渐加重,最后两天甚至无法辨认家人。没有任何药物摄入史。经检查,生命体征在正常范围内,血压(BP)130/80 mm Hg,脉搏(PR)80/min,室温下外周血氧饱和度(SpO2)98%,无面色苍白,存在深度黄疸。患者烦躁不安、神志不清、半昏迷,对指令没有反应。双侧足底反射呈外展。P/A检查显示全身胀痛和无触痛的4厘米坚实肝肿大。
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引用次数: 0
A Study of the Progression, Complications, and Outcome of Mucormycosis in a Case of Coronavirus Disease 2019 Pneumonitis at a Tertiary Care Hospital in Gujarat. 对古吉拉特邦一家三甲医院一例冠状病毒病 2019 年肺炎病例中粘孢子菌病的进展、并发症和预后的研究。
Q3 Medicine Pub Date : 2024-11-01 DOI: 10.59556/japi.72.0727
Mit K Makadia, Praful Dudhrejia, Pankaj Patil, Milan Parida

Introduction: The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) caused coronavirus disease 2019 (COVID-19) has been connected to numerous opportunistic bacterial and fungal infections. Mucormycosis is a fatal opportunistic disease that became much more common with the second COVID-19 wave. We plan to look into the prognosis and course of mucormycosis following COVID-19, as well as the risk of mucormycosis in cases with COVID-19 pneumonitis. Materials and methods: Just 100 verified cases of mucormycosis that were admitted to a civil hospital in Rajkot between April 2021 and March 2022 were included in this retrospective cross-sectional investigation. Data gathered from medical records included diagnoses, vital signs, test findings, microbiological information, usage of antibiotics, and outcomes. After entering the data into Microsoft Excel, we performed analysis and computations to determine frequency, percentage, and the Chi-squared test for variable comparison. Results: About 77.0% of the 100 mucormycosis patients were between the ages of 41 and 70. The bulk of them were male. The most frequent associated comorbidity was diabetes mellitus (DM) (30.0%). The most commonly impacted sinuses were the maxillary and ethmoidal ones. Amphotericin B was administered intravenously to each patient. In total, 82.0% of patients survived while 18.0% of patients died. Conclusion: Mucormycosis is an extremely rare, serious, and sometimes fatal infection. Because of comorbidities like diabetes and smoking, it went up with COVID-19. The use of glucocorticoids during COVID-19 treatment was the main risk factor.

导言:严重急性呼吸系统综合征冠状病毒 2(SARS-CoV-2)引起的冠状病毒病 2019(COVID-19)与许多机会性细菌和真菌感染有关。粘孢子菌病是一种致命的机会性疾病,在第二波 COVID-19 中变得更为常见。我们计划研究 COVID-19 后粘孢子菌病的预后和病程,以及 COVID-19 肺炎病例发生粘孢子菌病的风险。材料和方法:本次回顾性横断面调查纳入了 2021 年 4 月至 2022 年 3 月期间拉杰科特一家民用医院收治的 100 例经核实的粘孢子菌病病例。从病历中收集的数据包括诊断、生命体征、检查结果、微生物学信息、抗生素使用情况和结果。将数据输入 Microsoft Excel 后,我们进行了分析和计算,以确定频率、百分比和变量比较的卡方检验。结果在 100 名粘孢子菌病患者中,约 77.0% 的患者年龄在 41 岁至 70 岁之间。大部分患者为男性。最常见的合并症是糖尿病(30.0%)。最常受影响的鼻窦是上颌窦和筛窦。每位患者均静脉注射两性霉素 B。82.0%的患者存活,18.0%的患者死亡。结论粘孢子菌病是一种极其罕见、严重、有时甚至致命的感染。由于糖尿病和吸烟等合并症,COVID-19 的发病率有所上升。在 COVID-19 治疗期间使用糖皮质激素是主要的风险因素。
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引用次数: 0
Cognitive Neurology Continuing Medical Education: History Taking and Bedside Mental Status Examination in a Patient with Dementia. 认知神经学继续医学教育:痴呆症患者的病史采集和床边精神状态检查。
Q3 Medicine Pub Date : 2024-11-01 DOI: 10.59556/japi.72.0732
Amrita Jagdish Gotur, Lekhraj Hemraj Ghotekar

In a patient presenting with forgetfulness, history taking comprises asking questions pertaining to specific cognitive domains namely memory, language, executive function, visuospatial functions, and social cognition to characterize the clinical phenotype. The next step is to administer a standardized screening test for cognitive assessment, namely the Montreal Cognitive Assessment (MoCA)/mini mental status examination (MMSE). These have been validated in five Indian languages. Detailed lobar function tests to assess functions of frontal, temporal, parietal, and occipital lobes namely planning, set-shifting, recent and remote memory, apraxia, agnosia, cortical sensory loss, language, etc., are the final step to identify the possible subtype of dementia. Attention testing with random letter cancellation test must be performed at the outset, as an inattentive patient cannot complete rest of the examination. Clock drawing is a simple bedside test that can assess global cognitive functions by detecting deficits in attention, planning, right-left orientation, constructional ability, visuospatial orientation, and neglect.

对于出现健忘症的患者,病史采集包括询问与特定认知领域有关的问题,即记忆、语言、执行功能、视觉空间功能和社会认知,以确定临床表型的特征。下一步是进行认知评估的标准化筛查测试,即蒙特利尔认知评估(MoCA)/迷你精神状态检查(MMSE)。这些测试已通过五种印度语言的验证。详细的脑叶功能测试可评估额叶、颞叶、顶叶和枕叶的功能,即计划、集合转换、近期和远期记忆、失语、失认、皮质感觉缺失、语言等,这是确定痴呆症可能亚型的最后一步。由于注意力不集中的患者无法完成检查的其他部分,因此必须在一开始就进行注意力测试和随机字母取消测试。画时钟是一种简单的床边测试,可以通过检测注意力、计划性、左右定向、构建能力、视觉空间定向和忽视等方面的缺陷来评估整体认知功能。
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引用次数: 0
A Case Report of Larsen's Syndrome, Antiphospholipid Syndrome, Diaphragmatic Hernia, and a Colon Polyp: A Hidden Association or a Mere Coincidence. 拉森综合征、抗磷脂综合征、膈疝和结肠息肉的病例报告:隐性关联还是单纯巧合?
Q3 Medicine Pub Date : 2024-11-01 DOI: 10.59556/japi.72.0733
Shashwat Mallik, Shahin Khan, Aayushi J Rajani, Juhi Amin, Darshankumar Manubhai Raval

Larsen's syndrome is an exceedingly rare and debilitating skeletal disorder characterized by multiple bony deformities and joint contractures. A 47-year-old female grappled with its severe manifestations, including functional quadriplegia, limb atrophy, and various orthopedic surgeries. This is the only reported case of the concurrent presence of antiphospholipid antibody syndrome (APLA) and Larsen's syndrome. While Larsen's syndrome's genetic underpinnings are known to involve filamin B (FLNB) gene mutations, this patient's distinct presentation and complex clinical history added layers of intrigue. Intriguingly, APLA predisposes individuals to thrombotic events, but the patient's manifestation with rectal bleeding with normal coagulation parameters introduced an unexpected twist. Despite the absence of clear causative links, this case highlights the rarity of encountering Larsen's syndrome and APLA concurrently. Their potential interactions and mutual influence remain largely unexplored, underscoring the need for more research in this domain. Intricacies also emerged in the management of APLA within a surgical context. The decision to transition between anticoagulants underscores the necessity of individualized and comprehensive care for patients grappling with multiple comorbidities. It raises questions about the potential overlap between Larsen's syndrome and connective tissue diseases, like Marfan's syndrome, that warrant further exploration. The case also emphasizes the significance of increased patient mobilization to prevent thrombotic events in those who are bedridden or wheelchair-bound. This extremely unique presentation, featuring a genetic skeletal disorder, an autoimmune condition, recurrent diaphragmatic hernias, and a colon polyp-induced hemorrhage, beckons further research and analysis to unravel any potential associations between these conditions.

拉森综合征是一种极为罕见的骨骼疾病,以多发性骨骼畸形和关节挛缩为特征,使人衰弱。一名 47 岁的女性患有这种严重的疾病,包括功能性四肢瘫痪、肢体萎缩和各种骨科手术。这是唯一一例抗磷脂抗体综合征(APLA)和拉森氏综合征同时存在的病例。虽然已知拉森综合征的遗传基础涉及丝胺 B(FLNB)基因突变,但该患者的独特表现和复杂的临床病史更增加了几分耐人寻味。耐人寻味的是,APLA 易导致血栓事件,但该患者表现为直肠出血且凝血指标正常,这又是一个意想不到的转折。尽管没有明确的因果关系,但这一病例凸显了拉森综合征和 APLA 同时存在的罕见性。它们之间可能存在的相互作用和相互影响在很大程度上仍未得到探讨,这也凸显了在这一领域开展更多研究的必要性。在外科手术中处理 APLA 时也出现了错综复杂的情况。在多种抗凝药物之间转换的决定强调了为患有多种并发症的患者提供个体化综合治疗的必要性。该病例提出了拉森综合征与马凡氏综合征等结缔组织疾病之间可能存在重叠的问题,值得进一步探讨。该病例还强调了加强患者活动以预防卧床或坐轮椅患者血栓事件的重要性。这个病例极为特殊,具有遗传性骨骼疾病、自身免疫性疾病、复发性膈疝和结肠息肉引起的出血等特点,需要进一步研究和分析,以揭示这些疾病之间的潜在关联。
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