The Journal of the Association of Physicians of India最新文献

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Segmental Absence of Intestinal Musculature: An Enticing Predicament. 节段性肠肌缺失:诱人的困境
The Journal of the Association of Physicians of India Pub Date : 2024-11-01 DOI: 10.59556/japi.72.0734
Nitya Kaul, Rupinder Kaur, Vishesh Dhawan, Ayushi Kediya
{"title":"Segmental Absence of Intestinal Musculature: An Enticing Predicament.","authors":"Nitya Kaul, Rupinder Kaur, Vishesh Dhawan, Ayushi Kediya","doi":"10.59556/japi.72.0734","DOIUrl":"10.59556/japi.72.0734","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":22693,"journal":{"name":"The Journal of the Association of Physicians of India","volume":"72 11","pages":"e50-e52"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676833","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
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
The Journal of the Association of Physicians of India Pub Date : 2024-11-01 DOI: 10.59556/japi.72.0510
Bhawna Sharma, Mitul Kasundra
{"title":"Association of Gait Impairment with Executive Dysfunction and Magnetic Resonance Imaging Brain Findings in Elderly Population.","authors":"Bhawna Sharma, Mitul Kasundra","doi":"10.59556/japi.72.0510","DOIUrl":"10.59556/japi.72.0510","url":null,"abstract":"<p><p><b>Objectives:</b> 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. <b>Materials and methods:</b> 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. <b>Results:</b> 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. <b>Conclusion:</b> 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.</p>","PeriodicalId":22693,"journal":{"name":"The Journal of the Association of Physicians of India","volume":"72 11","pages":"e21-e31"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676936","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
Chronicles from the Nest: A Case of Psittacosis in India. 鸟巢纪事印度的鹦鹉热病例。
The Journal of the Association of Physicians of India Pub Date : 2024-11-01 DOI: 10.59556/japi.72.0720
Jinal Soni, Pooja Khosla, Vinus Taneja, Manuj Sondhi
{"title":"Chronicles from the Nest: A Case of Psittacosis in India.","authors":"Jinal Soni, Pooja Khosla, Vinus Taneja, Manuj Sondhi","doi":"10.59556/japi.72.0720","DOIUrl":"https://doi.org/10.59556/japi.72.0720","url":null,"abstract":"<p><p>Psittacosis is a rare zoonotic disease caused by a gram-negative obligate intracellular bacterium <i>Chlamydia psittaci</i>, 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.</p>","PeriodicalId":22693,"journal":{"name":"The Journal of the Association of Physicians of India","volume":"72 11","pages":"105-106"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676350","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
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。
The Journal of the Association of Physicians of India Pub Date : 2024-11-01 DOI: 10.59556/japi.72.0736
Abdeali Ginwala, Sunil Gaikwad, Monika Pujari, Divya Patel, Vrushali Khirid, Sanjay Pujari
{"title":"Cutaneous <i>Cytomegalovirus</i> Ulcers in an Individual with Acquired Immunodeficiency Syndrome: A Case Report.","authors":"Abdeali Ginwala, Sunil Gaikwad, Monika Pujari, Divya Patel, Vrushali Khirid, Sanjay Pujari","doi":"10.59556/japi.72.0736","DOIUrl":"https://doi.org/10.59556/japi.72.0736","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":22693,"journal":{"name":"The Journal of the Association of Physicians of India","volume":"72 11","pages":"e43-e44"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676567","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
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。
The Journal of the Association of Physicians of India 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
{"title":"Gastrointestinal Tuberculosis: 8-year Experience from a Tertiary Care Hospital in North India.","authors":"Brij Sharma, Rajesh Sharma, Vineeta Sharma, Vishal Bodh, Rajesh Kumar, Neetu Sharma, Arunima Sharma","doi":"10.59556/japi.72.0725","DOIUrl":"https://doi.org/10.59556/japi.72.0725","url":null,"abstract":"<p><p><b>Introduction:</b> 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. <b>Materials and methods:</b> 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. <b>Results:</b> 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. <b>Conclusion:</b> 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.</p>","PeriodicalId":22693,"journal":{"name":"The Journal of the Association of Physicians of India","volume":"72 11","pages":"63-67"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676805","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
Management of Acute Pulmonary Embolism: A Review. 急性肺栓塞的处理:回顾。
The Journal of the Association of Physicians of India Pub Date : 2024-11-01 DOI: 10.59556/japi.72.0737
Abhay Bhave, Harjit Dumra, Sandeep Bansal
{"title":"Management of Acute Pulmonary Embolism: A Review.","authors":"Abhay Bhave, Harjit Dumra, Sandeep Bansal","doi":"10.59556/japi.72.0737","DOIUrl":"https://doi.org/10.59556/japi.72.0737","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":22693,"journal":{"name":"The Journal of the Association of Physicians of India","volume":"72 11","pages":"80-91"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676811","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
Green Urine. 绿色尿液
The Journal of the Association of Physicians of India Pub Date : 2024-11-01 DOI: 10.59556/japi.72.0738
Meenaxi Sharda, Yogesh Kumar Bareth, Setu Jain, Nisa S Thomas, Dheeraj Krishna
{"title":"Green Urine.","authors":"Meenaxi Sharda, Yogesh Kumar Bareth, Setu Jain, Nisa S Thomas, Dheeraj Krishna","doi":"10.59556/japi.72.0738","DOIUrl":"https://doi.org/10.59556/japi.72.0738","url":null,"abstract":"<p><p>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 (SpO<sub>2</sub>) 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.</p>","PeriodicalId":22693,"journal":{"name":"The Journal of the Association of Physicians of India","volume":"72 11","pages":"107"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676807","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
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。
The Journal of the Association of Physicians of India Pub Date : 2024-11-01 DOI: 10.59556/japi.72.0727
Mit K Makadia, Praful Dudhrejia, Pankaj Patil, Milan Parida
{"title":"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.","authors":"Mit K Makadia, Praful Dudhrejia, Pankaj Patil, Milan Parida","doi":"10.59556/japi.72.0727","DOIUrl":"https://doi.org/10.59556/japi.72.0727","url":null,"abstract":"<p><p><b>Introduction:</b> 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. <b>Materials and methods:</b> 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. <b>Results:</b> 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. <b>Conclusion:</b> 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.</p>","PeriodicalId":22693,"journal":{"name":"The Journal of the Association of Physicians of India","volume":"72 11","pages":"17-20"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676908","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
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。
The Journal of the Association of Physicians of India Pub Date : 2024-11-01 DOI: 10.59556/japi.72.0732
Amrita Jagdish Gotur, Lekhraj Hemraj Ghotekar
{"title":"Cognitive Neurology Continuing Medical Education: History Taking and Bedside Mental Status Examination in a Patient with Dementia.","authors":"Amrita Jagdish Gotur, Lekhraj Hemraj Ghotekar","doi":"10.59556/japi.72.0732","DOIUrl":"https://doi.org/10.59556/japi.72.0732","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":22693,"journal":{"name":"The Journal of the Association of Physicians of India","volume":"72 11","pages":"68-72"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676476","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
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?
The Journal of the Association of Physicians of India Pub Date : 2024-11-01 DOI: 10.59556/japi.72.0733
Shashwat Mallik, Shahin Khan, Aayushi J Rajani, Juhi Amin, Darshankumar Manubhai Raval
{"title":"A Case Report of Larsen's Syndrome, Antiphospholipid Syndrome, Diaphragmatic Hernia, and a Colon Polyp: A Hidden Association or a Mere Coincidence.","authors":"Shashwat Mallik, Shahin Khan, Aayushi J Rajani, Juhi Amin, Darshankumar Manubhai Raval","doi":"10.59556/japi.72.0733","DOIUrl":"https://doi.org/10.59556/japi.72.0733","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":22693,"journal":{"name":"The Journal of the Association of Physicians of India","volume":"72 11","pages":"e47-e49"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676904","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
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