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Klinefelter Syndrome (49, XXXXY/48, XXXY) associated with narrow angle glaucoma:A case report. Klinefelter综合征(49,XXXXY/48, XXXY)合并窄角型青光眼1例。
Ejan P Ulloa-Padilla, Pedro J Dávila, Natalio J Izquierdo

Introduction: Previous studies have described Klinefelter syndrome as a geneticdisorder characterized by at least one extra X chromosome and at least 47chromosomes. It is the most common sex chromosome aneuploidy among men.Patients may present with large height, gynecomastia, low testosterone levels,infertility, hypogonadism and diseases usually more common in females suchas osteoporosis, breast cancer and auto-immune disorders. Other rare ophthalmicassociations have been described, such as diffuse choroidal atrophy, microphtalmia,cataracts, juvenile glaucoma, choroid colobomas and goniodysgenesis.

Objectives: To report on the ocular findings in a Puerto Rican patient withKlinefelter syndrome (XXXXY/XXXY). PATIENTS AND METHODS: A patient with Klinefelter syndrome with revious history of elevated intraocularpressure underwent a comprehensive ocular examination, Humphrey visualfields and Stratus optical coherence tomography (OCT) tests. Patient had inreased intraocular pressure, visual field loss and OCT findings compatible withglaucoma. After laser YAG laser iridotomies, high IOP persisted. Brimonidine0.2 % drops three times a day drops were prescribed to lower IOP.

Conclusions: A patient with Klinefelter syndrome had poor visual acuity, high intraocular pressure, visual fields and OCT results, all compatible with angle closureglaucoma as part of the syndrome.

先前的研究将Klinefelter综合征描述为一种遗传疾病,其特征是至少多一条X染色体和至少47条染色体。它是男性中最常见的性染色体非整倍体。患者可能会出现身高过高、男性乳房发育、睾酮水平低、不孕症、性腺功能减退以及骨质疏松症、乳腺癌和自身免疫性疾病等通常在女性中更常见的疾病。其他罕见的眼部关联也有报道,如弥漫性脉络膜萎缩、小眼球症、白内障、青光眼、脉络膜结肠瘤和性腺形成。目的:报告波多黎各klinefelter综合征(XXXXY/XXXY)患者的眼部表现。患者和方法:一名既往有眼压升高史的Klinefelter综合征患者接受了全面的眼部检查、Humphrey视野和层状光学相干断层扫描(OCT)检查。患者眼压升高,视野丧失,OCT表现符合青光眼。激光YAG激光虹膜切除术后,高眼压持续存在。溴莫尼定0.2%滴剂,每日三次,用于降低眼压。结论:1例Klinefelter综合征患者视力差、眼压高、视野及OCT结果均符合闭合性角原性青光眼。
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引用次数: 0
High Output Cardiac Failure in a Patient Presenting with Acute Myeloid Leukemia and Leukostasis. 急性髓性白血病和白细胞停滞患者的高输出量心力衰竭。
Jeffrey Maldonado, Angel Lopez Candales

In this case report a patient presents with high-output cardiac failure in the clinicalsetting of acute leukemia and leukostasis. Case particulars are presented, literatureis reviewed and a potential mechanistic explanation is proposed to describepresentation and clinical findings.

在这个病例中,报告一个病人在急性白血病和白细胞停滞的临床环境中出现高输出量心力衰竭。本文介绍了病例细节,回顾了文献,并提出了一种潜在的机制解释来描述其表现和临床表现。
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引用次数: 0
Bacterial Species, Susceptibility to antibiotics and characteristics of patients with surgicalsite infections. 手术部位感染的细菌种类、抗生素敏感性及患者特点。
Inés Serrano, Jorge Vera

Surgical site infections (SSI) are the most common healthcare-associatedinfections. Approximately 2-5% of all surgeries develop SSI as a complication.These infections are responsible for significant fatality, morbidity, andlength of hospital stay. The purpose of this study was to describe characteristicsof SSI in a community hospital in Puerto Rico. This was cross-sectionalstudy. Between July 2013 and August 2015, 5468 major operativeprocedures were performed and 31 SSI were reported for an overall SSIincidence rate of 0.57%. A total of 31 cases of SSI were studied. The meanage of patients was 59.4 years, with a range of to 29 to 89 years. The medianage was 64 years. The sex distribution showed 22 women (71%) and 9 men(29%). The prevalence rate of diabetes mellitus was 13/31 (42%). In thisstudy 90% of patients with SSI had at least one underlying health condition(diabetes, hypertension, obesity, age > 65 years). Location of surgicalsite infections were: abdominal 16 (52%), orthopedic 4 (13%), pelvic 7(22%), stump 3 (10%), and chest tube 1 (3%). A total of 12 different bacterialpathogens were found. A single etiologic agent was identified in 18 patients(53%) and multiple agents were found in 13 patients (47%). Enterococcusfaecalis was the most common pathogen (45% of patients) followedby Escherichia coli (39% of patients). The majority of bacteria isolated fromcultures were susceptible to B-lactams and aminoglycosides.

手术部位感染(SSI)是最常见的卫生保健相关感染。大约2-5%的手术会并发SSI。这些感染可导致严重的致死率、发病率和住院时间。本研究的目的是描述波多黎各一家社区医院的SSI特征。这是一项横断面研究。2013年7月至2015年8月,5468例主要手术,31例SSI报告,总SSI发生率为0.57%。本文共对31例SSI进行了研究。患者平均年龄59.4岁,年龄范围29 ~ 89岁。平均年龄为64岁。性别分布为女性22人(71%),男性9人(29%)。糖尿病患病率为13/31(42%)。在这项研究中,90%的SSI患者至少有一种潜在的健康状况(糖尿病、高血压、肥胖、年龄> 65岁)。手术部位感染部位:腹部16例(52%),骨科4例(13%),盆腔7例(22%),残端3例(10%),胸管1例(3%)。总共发现了12种不同的细菌病原体。18例患者(53%)发现单一病因,13例患者(47%)发现多种病因。粪肠球菌是最常见的病原体(占45%),其次是大肠杆菌(占39%)。从培养中分离的大多数细菌对b -内酰胺类和氨基糖苷类敏感。
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引用次数: 0
Right Heart Thrombus in Transit: Unusual Echocardiographic Finding in a patient with Acute Pulmonary Embolism. 右心血栓转运:急性肺栓塞患者的异常超声心动图发现。
Sonia I Vicenty-Rivera, Ricardo Perez-Feliciano, Carla P Rodriguez-Monserrate, Gabriela Montes-Rivera, Oscar Nevarez-Pomales

Eighty year old male patient with heart failure preserved ejection fraction (EF),Obstructive sleep apnea, peripherovascular disease admitted with increasingshortness of breath and found with pulmonary emboli. Baseline 2D-echo-cardiogramperformed demonstrated preserved ejection fraction and a rightthrombus in transit. Anticoagulation with weight based-low molecularweight heparin was given for six days. Follow-up echo performed demonstratedcomplete dissolution of right heart thrombi. Since there was complete dis-solution of thrombi seen on right atrium, anticoagulation with Rivaroxabanwas given instead.

80岁男性心力衰竭患者,保留射血分数(EF),阻塞性睡眠呼吸暂停,周围血管疾病入院,呼吸日益急促,发现肺栓塞。基线二维超声心动图显示射血分数保留,右血栓转运。以体重为基础的低分子量肝素抗凝治疗6天。随访回声显示右心血栓完全溶解。由于右心房血栓完全溶解,改用利伐沙班抗凝治疗。
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引用次数: 0
Primary cutaneous B-cell lymphoblastic lymphoma: A pediatric case report. 原发性皮肤b细胞淋巴母细胞淋巴瘤:一个儿科病例报告。
Rocío Cardona, Lilliana Ramírez-García, Francisco Colón-Fontanez

FPrecursor T- or B-cell non-Hodgkin lymphoblastic lymphomas representonly a small fraction of pediatric cancer cases. Due to its rarity, the diagnosis oflymphoblastic lymphoma (LBL) in a pediatric patient is challenging, particularlyif its manifestation is solely cutaneous. We describe the case of an infant with primary cutaneous B-cell LBL whowas initially diagnosed by a primary care physician with an infectious etiologyand consequently treated with topical and oral antibiotics. Subcutaneous noduleslocated on the head or neck of infants should raise suspicion for lymphomaand biopsy should be performed in order to rule out malignancy. A promptdiagnosis is imperative when considering the aggressive nature of LBLs. Expeditedtherapy has been known to help cease systemic involvement of primarycutaneous B-cell LBLs and encourage a more favorable outcome.

前体T细胞或b细胞非霍奇金淋巴母细胞淋巴瘤仅占儿童癌症病例的一小部分。由于其罕见性,儿科患者的淋巴母细胞淋巴瘤(LBL)的诊断具有挑战性,特别是如果其表现仅为皮肤。我们描述了一个婴儿原发性皮肤b细胞LBL的病例,他最初被一位初级保健医生诊断为感染性病因,随后接受局部和口服抗生素治疗。婴儿头部或颈部皮下结节应引起淋巴瘤的怀疑,应进行活检以排除恶性肿瘤。考虑到lbl的侵袭性,及时诊断是必要的。已知加速治疗有助于停止原发性皮肤b细胞lbl的全身累及,并促进更有利的结果。
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引用次数: 0
Acute Shortening and re-lengthening in the management of open tibia fractures with severe boneof 14 CMS or more and extensive soft tissue loss. 急性缩短和再延长治疗开放性胫骨骨折伴14公分及以上严重骨缺损和广泛的软组织损失。
Charles Zierenberg García, David Beaton Comulada, José Carlos Pérez López, Alfredo Lamela Domenech, Gabriella Rivera Ortiz, Héctor M González Montalvo, Pedro J Reyes-Martínez

Introduction: A traumatic event to the tibia with more than 14 cm of bone andsoft tissue loss represents a challenge to most orthopedic surgeons and is considered a limb-threatening condition. Few solutions are available in such clinical situations and among them is the acute shortening and re-lengthening ofbone and soft tissue.

Materials and methods: Our study presents the management of 7 patientswith grade III B open fractures (according to the Gustillo-Andersonclassification) of the tibia who underwent resectionof all the devitalized tissues, acute limb shortening to close the defect,application of an external fixator, and metaphyseal osteotomy for re-lengthening. The patient outcomes were basedon different parameters using the evaluation system established by Paley et al.

Results: Results acquired during the study show an average bone loss of 19cm(with a minimum of 14 cm and a maximum of 31.50cm). The average timeto full recovery of all patients was 19 months with a minimum of 14 monthsand a max of 34 months. Patient presented with excellent bony union andnone existent or small refractory leg length discrepancy and did not requirebone grafts or free flaps. Complications that the patients had were contractures,which required secondary procedures such as Achilles tendon re-lengtheningand recurrent infections.

Discussion: Overall patients had excellent bone union and were able to perform activities of their daily living. The Ilizarov technique of compression-dis-traction osteogenesis is an elegant treatment option that should be consideredin patients suffering such traumatic events providing excellent bony unionand good functional outcomes for the patient.

简介:胫骨的创伤性事件伴有超过14厘米的骨和软组织丢失,这对大多数骨科医生来说是一个挑战,并且被认为是一种危及肢体的疾病。在这种临床情况下,很少有解决方案可用,其中包括骨和软组织的急性缩短和再延长。材料和方法:我们的研究报告了7例III级B级胫骨开放性骨折(根据gustillo - anderson分类)患者的治疗方法,他们接受了所有失活组织的切除,急性肢体缩短以关闭缺损,应用外固定架和干骺端截骨术进行再延长。采用Paley等人建立的评估系统,根据不同的参数对患者的预后进行评估。结果:研究期间获得的结果显示,平均骨质流失19cm(最小14cm,最大31.50cm)。所有患者完全康复的平均时间为19个月,最短14个月,最长34个月。患者骨愈合良好,不存在或很少存在难治性腿长差异,不需要骨移植或游离皮瓣。患者的并发症是挛缩,这需要二次手术,如跟腱再拉长和复发性感染。讨论:总体而言,患者骨愈合良好,能够进行日常生活活动。Ilizarov加压-牵引成骨技术是一种优雅的治疗选择,对于遭受此类创伤事件的患者来说,它可以提供良好的骨愈合和良好的功能预后。
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引用次数: 0
A middle aged woman with isolated ACTH deficiency associated with transient growth hormone deficiency. 一中年妇女孤立ACTH缺乏与短暂性生长激素缺乏相关。
José Hernán Martínez, Michelle M Mangual Garcia, Madeleine Gutiérrez Acevedo, Alfredo Sánchez Cruz, Ivan Laboy, Carmen Rivera, Paola Mansilla, Coromoto Palermo Garofalo, María Lourdes Miranda, Oberto Torres Rafael

Isolated ACTH deficiency (IAD) is a rare entity characterized by secondaryadrenal insufficiency with low levels of serum cortisol, decreasedproduction of ACTH, adequate secretion of other pituitary hormonesand normal pituitary structure on radioimaging. The prevalence ofIAD as a cause of secondary adrenal insufficiency has not been determined.Impairment of growth hormone (GH) secretion has beennoted in 20 to 30% of patients with IAD which is normalized after glucocorticoidreplacement. We report the case of a 50 years-old femalewith symptoms and laboratory results suggestive of adrenal insufficiency.Insulin tolerance test confirmed ACTH and growth hormonedeficiency. The rest of the anterior pituitary hormones were normal. Apituitary MRI was unremarkable. Glucocorticoid replacement therapystarted and eight months afterwards glucagon stimulation test revealedpersistent ACTH deficiency but nor-mal growth hormone secretion. IAD can present with nonspecific symptomsand could be potentially fatal in an acute stressful period. Promptrecognition is essential to decrease morbidity and mortality.

孤立性促肾上腺皮质激素缺乏症(IAD)是一种罕见的疾病,其特征是继发性肾上腺肾功能不全,血清皮质醇水平低,促肾上腺皮质激素分泌减少,其他垂体激素分泌充足,放射成像显示垂体结构正常。fiad作为继发性肾上腺功能不全原因的患病率尚未确定。生长激素(GH)分泌障碍已在20%至30%的IAD患者中发现,在糖皮质激素替代后恢复正常。我们报告一例50岁女性的症状和实验室结果提示肾上腺功能不全。胰岛素耐量试验证实ACTH和生长激素缺乏。其余垂体前叶激素均正常。颅脑MRI未见明显变化。开始糖皮质激素替代治疗,8个月后胰高血糖素刺激试验显示持续ACTH缺乏,但生长激素分泌正常。IAD可表现为非特异性症状,在急性应激期可能具有潜在的致命性。及时认知对降低发病率和死亡率至关重要。
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引用次数: 0
Adequate Administration of Perioperative Antibiotics in Orthopedic Patients: Quality Assessment Study. 骨科患者围手术期抗生素的适当使用:质量评估研究。
Emanuel Rivera, William H Titley, Emmanuel López, Antonio Otero

The Centers for Disease Control and Prevention (CDC) estimate thatnearly 500,000 surgical site infections (SSIs) occur annually.[3] SSIs remaina substantial cause of morbidity and mortality among hospitalized patients.For this reason, we developed a quality assessment study with aperioperative antibiotic protocol that included antibiotic type, weight dependentdose, and intraoperative re-dosing regime for the proper administration of prophylaxis antibioticsprior to orthopedic surgery. We restricted our study to knee replacementand hip replacement surgeries. All records from September 2014 to June2015 were taken into consideration (78 cases). Before February 2015(protocol implementation date), only 33% or 13 of 39 cases were correctlydosed. After protocol establishment: 44 % or 17 of 39 cases were correctlydosed. Although our p-value suggests no statistical significance, there wasan increasing trend of adequate antibiotic administration. In conclusion,we need to educate more our nursing staff and implement monthly auditsof our cases to improve our mistakes and ensure that this aspect of practicewill remain in the forefront of perioperative orthopedic surgery care.

美国疾病控制与预防中心(CDC)估计,每年发生近50万例手术部位感染(ssi)。[3]ssi仍然是住院患者发病和死亡的主要原因。出于这个原因,我们开展了一项术前抗生素方案的质量评估研究,包括抗生素类型、体重依赖剂量和术中再给药方案,以确定骨科手术前预防性抗生素的适当给药。我们的研究仅限于膝关节置换和髋关节置换手术。选取2014年9月至2015年6月的所有记录(78例)。在2015年2月(方案实施日期)之前,39例病例中只有33%或13例得到正确剂量。方案建立后:39例中有17例(44%)正确给药。虽然我们的p值没有统计学意义,但抗生素的使用有增加的趋势。总之,我们需要对护理人员进行更多的教育,并对我们的病例进行月度审计,以改善我们的错误,并确保这方面的实践保持在围手术期骨科手术护理的前沿。
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引用次数: 0
Association between fine needle aspiration cytologyand final pathology in the diagnosis of thyroid noduleswith surgical indications. 细针穿刺细胞学与最终病理诊断甲状腺结节手术指征的关系。
Marla Servilla, César Trabanco, Walter Feliciano, Rafael E Bredy, Shirley Lojo

Fine needle aspiration of thyroid (FNA) is broadly used as the preferredpreoperatory test to evaluate thyroid nodules. The clinical importance ofthis procedure is primarily related the need to exclude Thyroid Cancer.There are few studies investigating the association between FNA and finalpathology in patients with thyroid nodules with surgical indications.There is no evidence from studies in the southern area of Puerto Rico thatinvestigate this association. This was a randomized cross-sectional study, 82medical records were evaluated. Data were obtained for FNA diagnosis,demographics, body mass index, findings on ultrasound and histopathologyresults. In this study the sensitivity of FNA was 73.53% and specificity of100%. The accuracy of the study was 78%. The study reported a prevalenceof 83% malignant tumors in the final pathology and 61% in the FNA. Thepositive predictive value was 100% and negative 43.75%, suggesting thatFNA is a good diagnostic test to detect thyroid nodules suspicious formalignancy. FNA of 33 patients was reported with undetermined cytopathology.The measure of agreement and correlation coefficient showed amoderate agreement between both studies with a Kappa value of 0.487,suggesting that the test results of FNA and final pathology are associated.Of the indeterminate nodules, final pathology reported 15 benign and 18malignant. This study demonstrated that the FNA is reliable in identifyingthyroid nodules in patients with surgical indications.

甲状腺细针穿刺(FNA)被广泛用作评估甲状腺结节的首选术前检查。该手术的临床重要性主要与排除甲状腺癌的需要有关。对于有手术指征的甲状腺结节患者,FNA与最终病理之间的关系的研究很少。在波多黎各南部地区的研究中没有证据表明这种联系。这是一项随机横断面研究,评估了82份医疗记录。数据包括FNA诊断、人口统计学、体重指数、超声检查结果和组织病理学结果。本研究FNA的敏感性为73.53%,特异性为100%。该研究的准确率为78%。该研究报告了最终病理中恶性肿瘤的患病率为83%,FNA中为61%。fna阳性预测值为100%,阴性预测值为43.75%,提示fna是检测甲状腺结节可疑排列的良好诊断方法。报告了33例患者的FNA,细胞病理学不确定。一致性和相关系数的测量结果显示,两项研究之间的Kappa值为0.487,具有中等一致性,表明FNA的检测结果与最终病理是相关的。在不确定的结节中,最终病理报告良性15例,恶性18例。本研究表明,FNA在有手术指征的患者中识别甲状腺结节是可靠的。
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引用次数: 0
The Role of Fibrinolytic Therapy in the Emergency Department. 纤溶治疗在急诊科的作用
Wanda L Rivera-Bou, Adriana Chersich

Emergency physicians are many times the first-line practitioners to encountercirculatory emergencies. Amongst these many diseases we face, of importanceare acute myocardial infarction, ischemic cerebrovascular accidents and pulmonaryembolism. Familiarity with fibrinolytic agents and regimens, as well as indicationsand contraindications, are crucial to the emergency department physician.Fibrinolytic therapy has been shown to be beneficial and can serve as a bridge todefinite treatment, while lowering the risk of morbidity and mortality. Unfortunatelyfibrinolytic therapy is underused and often administered later than optimum.The aim of fibrinolytics is to dissolve blood clots that can cause serious and potentiallylife-threatening damage if not removed in a timely manner. The mechanism ofthis benefit relates to maximizing tissue salvage by early restoration of blood flowand thereby enhancing both early and long-term survival. Older thrombi haveextensive fibrin polymerization making them more resistant to thrombolysis;hence, the importance of early administration of fibrinolytic therapy.

急诊医生往往是遇到反循环紧急情况的第一线从业人员。在我们面临的许多疾病中,最重要的是急性心肌梗死、缺血性脑血管意外和肺栓塞。熟悉纤溶药物和方案,以及适应症和禁忌症,对急诊科医生至关重要。纤溶治疗已被证明是有益的,可以作为确定治疗的桥梁,同时降低发病率和死亡率的风险。不幸的是,纤溶治疗没有得到充分的利用,而且经常比最佳治疗时间晚。纤溶剂的目的是溶解血液凝块,如果不及时清除,可能会造成严重的、潜在的危及生命的损害。这种益处的机制与早期血流恢复最大限度地挽救组织有关,从而提高早期和长期生存。老年血栓具有广泛的纤维蛋白聚合,使其对溶栓更有抵抗力,因此,早期给予纤维蛋白溶栓治疗的重要性。
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引用次数: 0
期刊
Boletin de la Asociacion Medica de Puerto Rico
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