Neonatal Necrotizing Enterocolitis: Clinical and Radiological Features

Necrotizing enterocolitis is an uncommon but dangerous disease in premature infants. Ten cases, seen over a three-year period at the Stanford University Medical Center, represented an incidence of 0.4 percent. The patients, six of whom died, derived from a general population, in contrast to the large series of patients reported in the literature in which the incidence was from 0.9 percent to 3.7 percent.^3-6The initial symptoms—rapid respiration, periodic breathing, lethargy and irritability—were identical to those which occurred in numerous infants who had respiratory disease. Subsequent symptoms (abdominal distension, in 100 percent; vomiting, 80 percent; apneic spells, 70 percent; jaundice, 70 percent; guaic-positive stools, 60 percent) were those of nonspecific acute abdominal disease.The radiologist first made the diagnosis in 90 percent of cases. Interstitial air in the wall of the gut and the retroperitoneum, and portal vein gas were the most diagnostic radiographic features. Barium contrast studies were not helpful, and in one case led to the erroneous diagnosis of small bowel volvulus.Plain abdominal radiographs must be taken of all premature infants with symptoms of nonspecific acute abdominal disease. If the radiographs are negative, but symptoms continue, they should be repeated at frequent intervals, for early diagnosis is critical to institution of proper therapy.     

Association of Pheochromocytoma and Ganglioneuroma: Unusual Finding in Neurofibromatosis Type 1

ObjectiveTo report a rare case of association of pheochromocytoma and ganglioneuroma in an asymptomatic patient with neurofibromatosis type 1 (NF1) and to discuss the importance of annual biochemical and imaging studies.MethodsWe present the clinical, laboratory, and pathology findings in a 41-year-old woman with NF1 and review the pertinent literature.ResultsA 41-year-old woman with NF1 presented for a routine gynecologic examination, at which time a right adrenal mass (4 by 3 cm) was discovered by abdominal ultrasonography and confirmed by abdominal computed tomographic scans and magnetic resonance imaging. The patient was normotensive and complained only of discrete essential tremors. Biochemical studies showed a serum epinephrine level of 195 pg/mL (normal,<100) and a 24-hour urine epinephrine excretion of 55 μg (normal,<20), findings consistent with pheochromocytoma. Metaiodobenzylguanidine scintigraphy revealed uptake in the right adrenal gland, with no evidence of metastatic lesions. Before surgical treatment, the patient received an α-adrenergic antagonist for 30 days. Laparoscopic excision of the right adrenal gland yielded excellent postoperative results. Surgical pathology revealed a multinodular mass composed of pheochromocytoma and ganglioneuroma. In patients with NF1 (von Recklinghausen’s disease), a tumor consisting of pheochromocytoma and ganglioneuroma is rare and may be more aggressive than pheochromocytoma alone. An asymptomatic catecholamine-producing tumor may cause substantial morbidity and mortality, especially in patients who are undergoing surgical intervention or are under other stressors.ConclusionThe current guidelines for managing patients with NF1 are an annual history and physical examination. Because of the increased prevalence of pheochromocytoma and ganglioneuroma in patients with NF1, and the potential associated adverse effects, we emphasize the importance of periodic clinical evaluation with biochemical testing and imaging studies. (Endocr Pract. 2007;13:647-651)     

Familial Carotid Body Tumors In Patients With Sdhd Mutations: A Case Series

ObjectiveTo describe a family with hereditary paraganglioma due to a disease-causing mutation in the SDHD gene.MethodsWe present the clinical findings, diagnostic test results, treatment, and genetic test results in a family with hereditary paraganglioma.ResultsThree siblings with bilateral carotid body tumors presented at different time points and with varied clinical presentations. While the proband, a 20-year-old man, was not hypertensive and had normal urinary metanephrine and normetanephrine levels, his sister and brother had a more severe clinical picture, with hypertension in both and elevated normetanephrine levels in his brother (his brother had pheochromocytoma and 2 intra-abdominal paragangliomas). Mean age at presentation was 24 years. A 4-base pair frameshift mutation, c.337-340delGACT, was detected in exon 4 of the SDHD gene in all 3 patients.ConclusionThis is the first report of the c.337340delGACT mutation being associated with hereditary paraganglioma; this report emphasizes the need to screen all at-risk first-degree relatives for the disease-causing SDHD mutation once it has been identified in an affected family member. (Endocr Pract. 2012;18:e106-e110)     

Ultrasonic Elastography Features of Phyllodes Tumors of the Breast: A Clinical Research

The purpose of this study was to analyze the ultrasonic elastography features of phyllodes tumors of the breast comparing with fibroadenomas. A retrospective database was queried for the patients diagnosed as phyllodes tumors and fibroadenomas at Sun Yat-sen Memorial Hospital from January 2008 to August 2012. Three hundred and fifty lesions from 323 consecutive patients were included in the study. All the cases were examined by conventional ultrasonography and ultrasound elastography. Ultrasound elastography was used to calculate strain ratio of the lesions with bilateral breast tissue at the same depth as reference. There were 36 phyllodes tumors (27 benign, 8 borderline, 1 malignant) and 314 fibroadenomas (158 the pericanalicular type, 103 the intracanalicular type, 53 other special types). The strain ratio for phyllodes tumors (3.19±2.33) was significantly higher than for fibroadenomas (1.69±0.88) (p<0.05). The Spearman^.s correlation coefficient between strain ratio of ultrasound elastography and pathological groups was significant, with a value of 0.17 (p<0.05). Ultrasound elastography could provide additional information to differentiate phyllodes tumors from fibroadenoma in breast.     

Comparative Characteristics of Immunological,Clinical and Morphological Features of Human Lymphoid Tumors in Respect with Tumor Genesis and Progression

We describe three lymphoid tumors with the same immunophenotype characteristic for chronic lymphoid leukemia (CD19⁺/CD5⁺, clonality of the light immunoglobulin chains, CD23⁺ and CD10^–). However, clinical picture and morphology of neoplastic cells dictate different clinical forms of these cases: chronic lymphoid leukemia, large cell transformation of chronic lymphoid leukemia and diffuse large B-cell lymphoma. Taking into account that immunophenotype reflects the origin of tumor, while clinical outcome and morphological features of cells reflect the stage of tumor progression and/or pathway of tumor formation, we discuss the approach to natural classification of lymphoid tumors based on the process of their evolution.     

Differences in Clinical Manifestations and Tumor Features Between Metastatic Pheochromocytoma/Paraganglioma Patients With and Without Germline SDHB Mutation

ObjectiveTo compare metastatic pheochromocytoma/paraganglioma (MPP) patients with germline SDHB mutations (SDHB MPP) and without SDHB mutations (non-SDHB MPP) in terms of baseline clinical manifestations, tumor characteristics, and outcomes.MethodsClinical data were retrospectively reviewed in 101 MPP patients, including 34 SDHB MPP patients and 61 non-SDHB MPP patients.ResultsSDHB MPP patients presented at a younger age at onset, diagnosis, or metastasis (25 ± 16 vs 36 ± 14, 28 ± 17 vs 38 ± 15, and 31 ± 17 vs 44 ± 14 years old, respectively, P < .01 for all) than non-SDHB patients. Compared with their non-SDHB counterparts, SDHB patients were more likely to have paragangliomas (83% vs 47%, P < .05), synchronous metastases (44% vs 23%, P < .05), bone metastases (80% vs 48%, P < .01), and a shorter progression-free survival (3 years vs 5 years, P < .01). The Ki-67 index was higher in SDHB tumors (P < .05). The 5- and 10-year survival rates were 79% and 74%, respectively, in all patients. Seventeen patients died from MPP, and the time from metastasis to death in patients who had received systemic therapy was significantly longer than in those who had not (3.1 ± 1.5 vs 1.4 ± 0.7 years, P < .01).ConclusionCompared with MPP patients without SDHB mutations, MPP patients with SDHB mutations were younger at onset, diagnosis, or metastasis; had a higher incidence of synchronous metastases, higher ratio of paraganglioma, and higher Ki-67 index; had a shorter postoperative progression-free survival; and were more likely to develop bone metastasis or sole liver metastasis. Our results suggest that patients with SDHB mutations should be identified early and monitored regularly to achieve optimal clinical outcomes.     

外周血炎性指标及炎性复合指标对肥厚性硬脑膜炎诊断价值：附17例病例报告

摘要 目的：寻找可作为肥厚性硬脑膜炎（hypertrophic pachymeningitis, HP）炎性标志物的外周血炎性指标及炎性复合指标。方法：纳入2015年4月至2019年12月期间在北京同仁医院神经内科住院治疗的17例HP患者，对其临床资料、影像学及实验室检查等进行回顾性归纳分析。统计HP最常见症状及首发症状，并对出院不同预后患者的临床资料进行比较。随后纳入32例与HP无明确相关性的其他神经系统非炎性疾病患者（non-inflammatory neurological diseases，OND）作为对照，分析两组外周血炎性指标及炎性复合指标之间差异，找寻在两组间具有鉴别诊断意义的炎性指标及炎性复合指标。结果：纳入HP患者平均年龄为50±16岁，男女比10:7。其中特发性HP 10例，继发性HP 7例。最常见症状为复视（12例），其次是头痛（10例）。最常见首发症状亦为复视（7例）。HP患者脑脊液白细胞数及蛋白水平正常。随访中发现原发性HP与继发性HP预后无差异。HP组和OND组除外周血类风湿因子（rheumatoid factors，RF）、红细胞沉降率（erythrocyte sedimentation rate，ESR）具有统计学差异外（P<0.05），中性粒细胞与淋巴细胞比值（neutrophil to lymphocyte ratio, NLR）这一炎性复合指标亦存在统计学差异（P<0.05）。同时发现上述三指标中ESR联合NLR对HP的排除诊断具有较高特异性。结论：HP按病因分为特发性和继发性。其临床表现多样，本组患者以复视为主要及首发症状，其次为头痛。本研究新发现炎性复合指标NLR在HP中升高且提示外周血急性炎症状态。同时，ESR会同NLR对该病的排除诊断具有重要意义。但炎性指标和炎性复合指标对于预后判断尚有待扩大样本量进一步研究。     

胃间质瘤11例临床诊治分析

目的:探讨胃间质瘤(GST)的诊断和治疗措施.方法:回顾性分析我院2000年4月至2006年3月近6年收治的1I例胃间质瘤患者的临床表现、辅助检查、手术治疗方式及病理结果.结果:临床以消化道出血、腹部肿块表现为主,症状无特异性,所有病例术前均行胃镜及CT检查,均行手术治疗,其中6例行肿瘤楔形切除,5例行胃大部切除术,病理诊断良性5例(45.5%)交界性1例(9%),恶性5例(45.5%).随访时间3个月至5年,死亡1例,死于腹腔广泛转移.结论:胃间质瘤缺乏特异的临床表现,术前诊断困难,胃镜和CT可发现病变,诊断以病理诊断为准,其中免疫组化结果为重要诊断依据,治疗以手术切除为主.     

Adverse Events Associated with Yoga: A Systematic Review of Published Case Reports and Case Series

While yoga is gaining increased popularity in North America and Europe, its safety has been questioned in the lay press. The aim of this systematic review was to assess published case reports and case series on adverse events associated with yoga. Medline/Pubmed, Scopus, CAMBase, IndMed and the Cases Database were screened through February 2013; and 35 case reports and 2 case series reporting a total of 76 cases were included. Ten cases had medical preconditions, mainly glaucoma and osteopenia. Pranayama, hatha yoga, and Bikram yoga were the most common yoga practices; headstand, shoulder stand, lotus position, and forceful breathing were the most common yoga postures and breathing techniques cited. Twenty-seven adverse events (35.5%) affected the musculoskeletal system; 14 (18.4%) the nervous system; and 9 (11.8%) the eyes. Fifteen cases (19.7%) reached full recovery; 9 cases (11.3%) partial recovery; 1 case (1.3%) no recovery; and 1 case (1.3%) died. As any other physical or mental practice, yoga should be practiced carefully under the guidance of a qualified instructor. Beginners should avoid extreme practices such as headstand, lotus position and forceful breathing. Individuals with medical preconditions should work with their physician and yoga teacher to appropriately adapt postures; patients with glaucoma should avoid inversions and patients with compromised bone should avoid forceful yoga practices.     

A Comparative Analysis of the Molecular Features of MANF and CDNF

Cerebral dopamine neurotrophic factor (CDNF) is a paralogous protein of mesencephalic astrocyte-derived neurotrophic factor (MANF). Both proteins have been reported to show a common cytoprotective effect on dopaminergic neurons as a secretory protein containing the KDEL-like motif of the ER retrieval signal at the C-terminus, RTDL in MANF and [Q/K]TEL in CDNF among many species, although functions of paralogous proteins tend to differ from each other. In this study, we focused on post-translational regulations of their retention in the endoplasmic reticulum (ER) and secretion and performed comparative experiments on characterization of mouse MANF and mouse CDNF according to our previous report about biosynthesis and secretion of mouse MANF using a NanoLuc system. In this study, co-expression of glucose-regulated protein 78 kDa (GRP78), KDEL receptor 1 or mutant Sar1 into HEK293 cells similarly decreased MANF and CDNF secretion with some degree of variation. Next, we investigated whether CDNF affects the secretion of mouse cysteine-rich with EGF-like domains 2 (CRELD2) because mouse wild-type (wt) MANF but not its KDEL-like motif deleted mutant (ΔC_MANF) was found to promote the CRELD2 release from the transfected cells. Co-expressing CRELD2 with wt or ΔC CDNF, we found that CDNF and ΔC_MANF hardly elevated the CRELD2 secretion. We then investigated effects of the four or six C-terminal amino acids of MANF and CDNF on the CRELD2 secretion. As a result, co-transfection of mouse CDNF having the mouse MANF-type C-terminal amino acids (CDNF_RTDL and CDNF_SARTDL) increased the CRELD2 secretion to a small extent, but mouse CDNF having human CDNF-type ones (CDNF_KTEL and CDNF_HPKTEL) well increased the CRELD2 secretion. On the other hand, the replacement of C-terminal motifs of mouse MANF with those of mouse CDNF (MANF_QTEL and MANF_YPQTEL) enhanced the CRELD2 secretion, and the mouse MANF having human CDNF-type ones (MANF_KTEL and MANF_HPKTEL) dramatically potentiated the CRELD2 secretion. These results indicate that the secretion of mouse MANF and mouse CDNF is fundamentally regulated in the same manner and that the variation of four C-terminal amino acids in the MANF and CDNF among species might influence their intracellular functions. This finding could be a hint to identify physiological functions of MANF and CDNF.     

Clinical Characteristics and Outcome of Thyroid Storm: A Case Series and Review of Neuropsychiatric Derangements in Thyrotoxicosis

ObjectiveThe objectives of this study were (1) to describe the presentation, demographics, and clinical course of patients admitted for thyroid storm, and (2) to identify factors associated with mortality.MethodsA retrospective review of subjects admitted to a single academic hospital from 2006 through 2011 was conducted. Medical records for all patients who were admitted with a diagnosis of thyrotoxicosis were systematically reviewed for clinical features of thyroid storm.ResultsA total of 28 cases were identified. Thyroid storm was the first clinical presentation of thyrotoxicosis in 13 patients (46.4%). Noncompliance with treatment was a major trigger in previously diagnosed patients, followed by infection. The mortality rate was 25% in this series. Cardiac manifestations were predominant, with > 60% of patients having severe tachycardia (heart rate > 140 beats per minunte) and/or atrial fibrillation. Although central nervous system (CNS) involvement was less frequent (n = 8, 28.6%), CNS derangement of worse than mild severity was statistically associated with mortality (P = .021). There was good agreement between the Burch-Wartofsky Point Scale and Japanese Thyroid Association criteria in the diagnosis of thyroid storm in this study cohort.ConclusionThyroid storm was the first presentation of thyrotoxicosis in a significant proportion of patients, highlighting the importance of a high index of suspicion in an appropriate clinical context. The presence of neuropsychiatric manifestations appeared to portend greater risk of mortality. Prevailing evidence suggests that there are complex interactions between thyroid hormones and neurotransmitter circuits in the pathogenesis of CNS symptomology in thyrotoxicosis. (Endocr Pract. 2015;21:182-189)     

Clinical Analysis of 152 Cases of Multiple Primary Malignant Tumors in 15,398 Patients with Malignant Tumors

ObjectivesIn this study, the etiology, clinical characteristics, and prognosis of multiple primary malignant tumors (MPMTs) were investigated. Furthermore, we analyzed the treatment factors associated with MPMTs.MethodsFrom 15,398 patients with malignant tumors presenting to The First Hospital of Jilin University, China, between January 2010 and December 2013, we identified and analyzed patients with MPMTs. Data were obtained retrospectively from the hospital database.ResultsThe prevalence of MPMTs in this study was 0.99% (152/15398): 51 cases were synchronous MPMTs, and 101 cases were metachronous MPMTs. The mean time between the first and second primary cancer was 43.1 months. In this population, MPMTs were observed more frequently in patients with head and neck tumors (5.65%) and urinary tumors (4.19%); the prevalence of MPMTs in these patients was over 4-fold greater than the prevalence of MPMTs in all patients (0.99%). There were no cases of MPMTs in 132 cases of nervous system tumors and 404 cases of multiple myeloma. Nearly 50% (45.4%) of patients with MPMTs did not receive chemotherapy or radiotherapy before the second primary cancer was diagnosed. Eighty-five patients with MPMTs were followed for more than 2 years, and the 2-year cumulative survival rate was 40.8%.ConclusionsIn this study, the prevalence of MPMTs was 0.99% (152/15398), which is consistent with the Chinese literature. Patients with head and neck tumors or urinary tumors are at greater risk of developing MPMTs. In addition to radiotherapy or chemotherapy, this study suggests that other factors may contribute to MPMTs.