A unique case of Hajdu-Cheney syndrome and squamous cell carcinoma of the anus

Objective  Hajdu-Cheney syndrome (HCS), first described in 1948 by Hajdu and independently in 1965 by Cheney, is an extremely rare disorder characterized by severe and excessive bone resorption leading to osteoporosis, with a wide range of other systemic complications from connective tissue and bone dysplasia. Currently there are approximately 50 distinct cases reported in the literature. There have been several reports associating polycystic kidneys with HCS and several other connective tissue disorders, suggesting a possibility of a hyperproliferative component to the syndrome. No articles exist in the current literature describing a case of HCS with concurrent carcinoma. Here, we present a case of a 54-year-old nonimmune compromised woman with multiple stigmata of HCS and recently diagnosed anal squamous cell carcinoma.
Method  This is a case report of HCS and stage T3N0 squamous cell carcinoma of the anus.
Results  This is the first report of a patient with HCS with malignancy.
Conclusions  We present a patient with HCS who developed anal squamous cell carcinoma. The mechanism of HCS, which is still unknown, may either make patients more susceptible to carcinoma or may just be a reflection of the normal incidence of anal squamous cell carcinoma given attributable risk factors.     

Cowden Syndrome: Serendipitous Diagnosis in Patients with Significant Breast Disease. Case Series and Literature Review

Cowden syndrome (CS) is a multi‐system disease that carries an increased lifetime risk of developing certain cancers as well as benign neoplasms. The presence of features of CS in the general unaffected population results in difficulties in the recognition and diagnosis of this condition. Early diagnosis is essential to prevent the development of malignant neoplasms, yet despite the introduction of diagnostic criteria and risk calculators, accurate diagnosis remains a challenge. We identified three patients who presented to the symptomatic breast unit of a University Teaching Hospital over a period of 12 weeks who subsequently were diagnosed with CS. In this article, we discuss their clinical presentations as well as their path to diagnosis. The short timeframe between the presentations of these patients undoubtedly expedited their diagnosis. Upon application of internationally recognized diagnostic criteria, only two out of our three patients were accurately diagnosed. The risk of breast cancer in CS is comparable with that found in Hereditary Breast and Ovarian Cancer Syndrome and while a protocol for breast screening in these patients exists in most centres, no such protocol exists for patients with CS in our institution. The recommended cancer surveillance programs for patients with CS have not been found to prolong survival, however. CS consists of a vast array of diseases that span the various specialties and the subsequent varied phenotypic presentation poses diagnostic difficulties for clinicians as emphasized in our series. Continued research is required to improve recognition and diagnosis and will hopefully result in the emergence of life prolonging strategies.     

Early Results of Laparoscopic Biliopancreatic Diversion with Duodenal Switch: A Case Series of 40 Consecutive Patients

Background: Biliopancreatic diversion with duodenal switch (BPD-DS) is an operation which provides one of the greatest maintained weight losses of any bariatric procedure.We looked at the safety and efficacy of laparoscopic BPD-DS for morbid obesity. Methods: A 150-200 ml sleeve gastrectomy was created and anastomosed to the distal 250 cm of divided ileum. The median length of the common channel was 100 cm. All patients were prospectively followed up to 12 months. Results: 40 consecutive patients underwent laparoscopic BPD-DS as a primary procedure for morbid obesity. Median patient body mass index (BMI) was 60 kg/m2 (range 42-85 kg/m2). Mean age was 43 ± 1 years (± SEM), with 12 males and 28 females. One patient was converted to open laparotomy (2.5%). Median operative time was 210 ± 9 minutes (range 110-360 minutes) with a significant correlation between BMI and operative time (p = 0.04). Median length of stay was 4 days (range 3- 210 days). There was one 30-day mortality (2.5%). Major morbidities occurred in 6 patients (15%), including 1 anastomotic leak (2.5%), 1 venous thrombosis (2.5%), 4 staple-line hemorrhages (10%) and 1 subphrenic abscess (2.5%). Median follow-up at 6 months (range 1-12 months) resulted in 46% ± 2% excess weight loss (EWL) and at 9 months 58% ± 3% EWL. Conclusion: Laparoscopic BPD-DS is a complex, yet feasible, procedure resulting in effective weight loss with an acceptable morbidity. A BMI >65 was associated with increased morbidity and mortality. A long-term study is needed to confirm efficacy and proper patient selection.     

Exercise Induced Chronic Compartment Syndrome of the First Dorsal Interosseous Compartment of the Hand: A Case Report

Exercise-induced chronic compartment syndrome in the first dorsal compartment is an uncommon entity and relatively rare condition which is not very well understood. It is a usually activity-related condition and is associated with decreased function of muscle with intracompartmental swelling. We present a case with proven exercise-induced raised compartment pressure that responded well to surgical fasciotomy.     

Inflammatory Pseudotumor of the Temporal Bone: A Case Series

Inflammatory pseudotumor is a non-neoplastic inflammatory process. Histologically these lesions appear as an inflammatory infiltrate with a fibrotic background. Clinical presentations vary from slow growth with minimal mass effect, to bony destruction that can mimic malignancy. Although they occur most commonly in the orbit, there are a growing number of case reports of tumors of the temporal bone and skull base. Inflammatory pseudotumors of the temporal bone are best treated by excision, with radiation and steroid therapy reserved for inoperable tumors. The clinical, histologic, and radiographic features of two patients with inflammatory pseudotumor of the temporal bone are presented.     

Perspective: Assessing the Clinical Utility of Serum CTX in Postmenopausal Osteoporosis and Its Use in Predicting Risk of Osteonecrosis of the Jaw

Bone turnover markers (BTMs) have become increasingly important in the management of postmenopausal osteoporosis (PMO). In bisphosphonate‐treated women with PMO, BTMs can provide early indications of treatment efficacy, are predictors of BMD response and fracture risk reduction, and are potentially useful for monitoring patient compliance. The bone resorption marker serum C‐telopeptide cross‐link of type 1 collagen (sCTX) has shown high sensitivity and specificity for the detection of increased bone resorption. Recently, sCTX has been singled out as a potential indicator of risk of osteonecrosis of the jaw (ONJ) in patients receiving oral bisphosphonates who require oral surgery. However, whether BTMs are capable of predicting ONJ risk and whether sCTX is usable for this purpose are controversial questions. This article presents an overview of the current literature regarding critical issues affecting the clinical utility of BTMs (including variability and reference ranges) and the current applications of BTMs in PMO management, with a focus on sCTX. Last, the appropriateness of using sCTX to predict ONJ risk in women receiving oral bisphosphonates for PMO is evaluated.     

补肾中成药对绝经后骨质疏松症骨代谢影响的Meta分析

目的探索补肾中成药对绝经后骨质疏松症(postmenopausal osteoporosis,PMOP)骨代谢的影响。方法检索PubMed、Cochrane Library、中国知网、万方数据和CBM数据库,收集补肾中成药单用或联合西药治疗绝经后骨质疏松症的随机对照试验和临床对照试验,按PRISMA声明进行定性分析和定量分析,定量分析采用RevMan 5.3和R3.4.3完成。结果共纳入15项研究,共有患者1 388例。定性分析表明中成药能下调I型原胶原氨基端前肽(N-terminal propeptide of type I procollagen,P1NP)和I型胶原交联羧基末端肽(beta C-terminal telopeptide of type I collagen,β-CTX),上调骨碱性磷酸酶(bone specific alkaline phosphatase,BALP),上调或下调骨钙素。定量分析显示,与对照组相比,补肾中成药对P1NP无显著影响[WMD=-4.10,95%CI(-9.18,0.98),P=0.11],下调β-CTX[WMD=-66.85,95%CI(-125.83,-7.87),P=0.03],上调BALP[WMD=10.12,95%CI(7.35,12.90),P0.01],上调骨钙素[WMD=2.70,95%CI(0.46,4.94),P=0.02]。针对骨钙素进行亚组分析,非升高亚组补肾中成药能下调骨钙素[WMD=-2.76,95%CI(-3.99,-1.53),P0.01],上升亚组补肾中成药能上调骨钙素[WMD=4.22,95%CI(1.80,6.63),P=0.0006]。结论补肾中成药能够抑制PMOP的骨吸收,对骨形成的影响尚不确定。补肾中成药对骨形成的影响可能与具体使用的药物相关,淫羊藿、刺五加能促进骨形成,其他药物的影响不明显。但由于纳入的文献质量较低,仍需要更严谨的研究加以证实。     

Skin Ultrasound Measurement as a Potential Marker of Bone Quality: A Prospective Pilot Study of Patients undergoing Lumbar Spinal Fusion

Bone mineral density (BMD) is not the sole predictor of fracture development. Qualitative markers including bone collagen maturity contribute to bone fragility. Bone and related type I collagen containing connective tissues degenerate in parallel fashion. With aging, changes in skin collagen content and quality have been observed that can be detected on ultrasound (US) as a decrease in dermal thickness and an increase in reticular layer echogenicity. We hypothesized that US dermal thickness and echogenicity correlate with bone collagen maturity. Data of 43 prospectively enrolled patients (mean age 61 years, 24 females), who underwent instrumented, posterior lumbar fusion was analyzed. Besides preoperative quantitative computed tomography (QCT) and skin US measurements, intraoperative bone biopsies were obtained and analyzed with Fourier‐transform infrared spectroscopy. Among men, there was no correlation between US measurements and collagen maturity. Among women, dermal layer thickness correlated negatively with collagen maturity in trabecular bone of the iliac crest (r = ?0.51, p = 0.01) and vertebra (r = ?0.59, p = 0.01) as well as in cortical bone of the iliac crest (r = ?0.50, p = 0.02) and vertebra (r = ?0.50, p = 0.04). In addition, echogenicity correlated positively with collagen maturity in trabecular vertebral bone (r = 0.59, p = 0.01). In both genders, US measurements showed no correlation with QCT BMD. In summary, ultrasound skin parameters are associated with bone quality factors such as collagen maturity, rather than bone quantity (BMD). Ultrasound of the skin may thereby be an easy and accessible take off point for diagnosis of bone collagen maturity and connective tissue degeneration in the future. © 2019 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 37:2508–2515, 2019     

A Case of Central Cord Syndrome Caused by Intubation: A Case Report

Abstract

Following intubation for respiratory distress, a 42 year-old female patient sustained a hyperextension injury which produced a central cord syndrome. This paper illustrates an unusual mechanism whereby a central cord syndrome was caused by pure hyperextension without high velocity force. (J Spinal Cord Med 1997; 20:230-232)     

连续300例全胸腔镜肺叶切除术及中期随访分析

目的总结连续300例行全胸腔镜（VATS）肺叶切除术患者的临床经验,并报道其3年随访结果。方法回顾性分析北京大学人民医院胸外科2006年9月至2009年12月期间完成的连续300例行VATS肺叶切除术患者的临床资料,其中男159例,女141例;年龄18~86岁（58.30±13.90岁）。术前临床诊断：肺占位266例,支气管扩张22例,囊肿/脓肿5例,肺隔离症3例,真菌感染2例,气胸2例。对其手术相关参数及3年随访结果等进行统计分析。结果全组300例患者中良性疾病66例,其中感染性疾病占81.82%（54/66）;恶性疾病234例,其中非小细胞肺癌213例,腺癌占全部恶性疾病的73.08%（171/234）。全组273例完成VATS手术,27例中转开胸,中转开胸率9.00%。完成VATS肺叶切除手术时间3.17±0.88 h,术中出血量225.70±195.20 ml。良性疾病患者的手术时间、术后胸腔引流时间均显著低于恶性疾病（t=2.280,P=0.003;t=1.392,P=0.030）。中转开胸的主要原因为淋巴结与血管致密粘连,占62.96%（17/27）;其它原因主要为术中出血,占18.52%（5/27）。单因素分析结果显示：肺上叶切除术中转开胸风险高于非上叶切除术（χ2=6.131,P=0.013）,而患者性别（χ2=1.182,P=0.277）,良、恶性疾病（χ2=0.210,P=0.647）,病变位于左右侧（2χ=2.933,P=0.087）之间中转开胸风险的差异无统计学意义。全组患者3年随访结果显示：良性疾病患者无症状复发,非小细胞肺癌患者3年总生存率为0.87[95%CI（0.77,0.96）],其中病理分期Ⅰ期患者（135例）3年总生存率为0.91[95%CI（0.85,0.98）]。结论 VATS肺叶切除术是一种安全有效的手术方式,国内VATS肺叶切除术技术及中期效果均达到了国际水平。     

Increased Bone Resorption Is Associated With Increased Risk of Cardiovascular Events in Men: The MINOS Study

Better assessment of the association between cardiovascular disease and osteoporosis in older men may help identify shared etiologies for bone and heart health in this population. We assessed the association of BMD and bone turnover markers (BTMs) with risk of cardiovascular events (myocardial infarction or stroke) in 744 men ≥50 yr of age. During the 7.5‐yr prospective follow‐up, 43 strokes and 40 myocardial infarctions occurred in 79 men. After adjustment for confounders (age, weight, height, smoking, education, physical activity, self‐reported history of diabetes, hypertension, and prevalent ischemic heart disease), men in the lowest quartile of BMD at the spine, whole body, and forearm had a 2‐fold increased risk of cardiovascular events. Men in the highest quartile of bone resorption markers (deoxypyridinoline [DPD], C‐telopeptide of type I collagen) had a 2‐fold increased risk of cardiovascular events (e.g., multivariable‐adjusted hazard ratio [including additional adjustment for BMD] was 2.11 [95% CI: 1.26–3.56], for the highest quartile of free DPD relative to the lowest three quartiles). The results were similar for men without prevalent ischemic heart disease and for myocardial infarction and stroke analyzed separately. Our data suggest that men with low BMD or high bone resorption may be at increased risk of myocardial infarction and stroke in addition to fracture. Thus, men with osteoporosis may benefit from screening for cardiovascular disease. Further study to elucidate the biological mechanism shared by bone and vascular disease may help efforts to identify men at risk or develop treatment.     

Arthroscopic Treatment for Femoroacetabular Impingement Syndrome with External Snapping Hip: A Comparison Study of Matched Case Series

ObjectiveTo determine the effectiveness of hip arthroscopy combined with endoscopic iliotibial band (ITB) release in patients with both femoroacetabular impingement (FAI) syndrome and external snapping hip (ESH).MethodsRetrospectively review the preoperative and minimum of 2‐year follow‐up data of patients with both FAI syndrome and ESH who underwent endoscopic ITB release during hip arthroscopy (FAI + ESH group) from January 2014 to December 2018. The same number of age‐ and gender‐matched FAI syndrome patients without ESH undergoing hip arthroscopy were enrolled in the control group (FAI group). Patient‐reported outcomes (PROs) including international Hip Outcome Tool (iHOT‐33), modified Harris Hip Score (mHHS), visual analog scale for pain (VAS‐pain), and abductive force of affected hip at 3 month and 2 years postoperatively were comparatively analyzed. The VAS‐satisfaction score of two groups at 2 years postoperatively were also analyzed.ResultsThe prevalence of ESH in FAI syndrome patients undergoing hip arthroscopy in our institution was 5.5% (39 of 715 hips), including nine males (10 hips) and 29 females (29 hips). The mean age at the time of surgery was 32.1 ± 6.9 years (range, 22–48 years). According to inclusion and exclusion criteria, 23 patients were enrolled in FAI + ITB group. Twenty‐three age‐ and sex‐matched FAI syndrome patients were enrolled in FAI group. At 24 months postoperatively, no patient still suffered ESH symptoms and painful palpation at lateral region in FAI + ITB group. The iHOT‐33, mHHS, and VAS‐pain score of patients in FAI + ESH group were significantly severer than patients in FAI group preoperatively (41.6 ± 7.5 vs 48.8 ± 7.2, 54.8 ± 7.2 vs 59.2 ± 6.9, 5.5 ± 0.9 vs 4.7 ± 1.0; P < 0.05), while there was no significant difference in these scores between the patients in FAI + ESH group and FAI group at 3‐month and 24‐month follow‐up (73.6 ± 8.5 vs 76.1 ± 6.9, 85.3 ± 7.8 vs 84.2 ± 6.6, 0.8 ± 0.9 vs 0.6 ± 0.9; P > 0.05). At 3 months after surgery, the abductive force of operated hip was significantly smaller than that in FAI group (82.4 ± 12.4 N vs 91.9 ± 16.1 N, P < 0.05), whereas there was no significant difference at 24 months after surgery (101.6 ± 14.9 N vs 106.5 ± 13.7 N, P > 0.05). The VAS‐satisfaction scores of patients in the two groups were at a similarly high level (90.5 ± 6.8 vs 88.8 ± 7.3, P > 0.05). There was no complication and no arthroscopic revision in either group until 2‐year follow‐up.ConclusionAlthough abductive force recovery of the hip was delayed, hip arthroscopy combined with endoscopic ITB release addressed hip snapping in patients with both FAI syndrome and ESH, and could get similar functional improvement, pain relief, recovery speed, as well as patient satisfaction compared with the pure hip arthroscopy in FAI syndrome patients without ESH.