Computed tomography of the shoulders in patients with obstetric brachial plexus injuries: a retrospective study

Background

Scapular hypoplasia, elevation, and rotation (SHEAR) deformity and posterior subluxation of the humeral head are common tertiary sequelae of obstetric brachial plexus injuries (OBPI). Interpretations of images from bilateral computed tomography (CT) scans of the upper extremities are critical to the diagnosis and treatment plan for patients with these bony deformities resulting from OBPI.

Methods

We conducted a retrospective study to investigate the accuracy of radiologic reports in the diagnosis of SHEAR or posterior subluxation of the humeral head in OBPI patients. CT studies from 43 consecutive patients over a 33-month period were used in the study. For each patient, we compared the results from the radiologic report to those from a clinical examination given by the attending surgeon and to measurements taken from the CT studies by biomedical researchers.

Results

A comparison of SHEAR measured from the 3-D CT images to the diagnoses from the radiologists, revealed that only 40% of the radiological reports were accurate. However, there was a direct correlation between the use of the 3-D CT images and an accurate SHEAR diagnosis by the radiologists (p < 0.0001). When posterior subluxation was measured in the affected and contralateral shoulders, 93% of the patients that had greater than a 10% difference between the two shoulders did not have their deformity diagnosed. The radiological reports diagnosed 17% of these patients with a 'normal' shoulder. Only 5% of the reports were complete, accurately diagnosing SHEAR in addition to posterior subluxation.

Conclusion

Due to the low incidence rate of OBPI, many radiologists may be unfamiliar with the sequelae of these injuries. It is therefore critical that radiologists are made aware of the importance of an accurate measurement and diagnosis of the SHEAR deformity. Due to their lack of completeness, the radiological reports in this study did not significantly contribute to the clinical care of the patients. In order for OBPI patients to receive the highest standard of care, the final diagnosis from their radiological imaging should be deferred to a brachial plexus specialist who is experienced with these types of injuries.     

Hereditary hemorrhagic telangiectasia or Rendu-Osler-Weber syndrome in the same family

The authors present the case of three patients from the same family in whom hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber syndrome was diagnosed. The disease is rare and occurs with multiple telangiectases of the skin and mucosa, and pulmonary arteriovenous fistulae. The clinical status of our patients included multiple telangiectases of the skin and mucosa, recurrent epistaxis, exertion dyspnea and cyanosis. Polycythemia and hypoxemia were observed in the blood. The clinical status and conventional radiological examination of the thoracic region, with the suspicion of arteriovenous (A-V) fistulae, pointed to HHT. A-V fistulae were confirmed by pulmonary angiography. The pulmonary A-V fistulae were operated in all three patients and diagnosis was confirmed by histopathological examination of the operated samples. Clinical improvement was observed after the operation and cyanosis, dyspnea, hypoxemia and polycythemia disappeared.     

Invasive pulmonary aspergillosis in AIDS.

Aspergillosis is a fungal infection rarely observed in Cuba during the first years of the AIDS epidemic. However, the increase in aspergillosis cases diagnosed by autopsy in recent years, led us to study the epidemiological, clinical, radiological and anatomopathological characteristics of this disease among the Cuban AIDS patients. A total of 307 autopsies were reviewed, seven of them had invasive pulmonary aspergillosis (2.2%). The disease was predominant in men and in the white race. Neutropenia and drugs use were the risk factor more frequently observed. Clinical manifestations were those unspecific and common to other opportunistic infection of the respiratory system. The more common radiological picture were bilateral nodular infiltrates and cavitary lesions in the upper lobes (two cases). The anatomopathological diagnosis was based on the morphological characteristics of the agent and in the angioinvasive features of the pulmonary lesions. We suggest that aspergillosis should be considered in the differential diagnosis of opportunistic respiratory events of AIDS patients in advanced stages.     

A Biobank for Long-term and Sustainable Research in the Field of Congenital Heart Disease in Germany

Congenital heart disease(CHD) is the most frequent birth defect(0.8%–1% of all live births). Due to the advance in prenatal and postnatal early diagnosis and treatment, more than90% of these patients survive into adulthood today. However, several mid- and long-term morbidities are dominating the follow-up of these patients. Due to the rarity and heterogeneity of the phenotypes of CHD, multicenter registry-based studies are required. The CHD-Biobank was established in 2009 with the aim to collect DNA from patients and their parents(trios) or from affected families, as well as cardiovascular tissues from patients undergoing corrective heart surgery for cardiovascular malformations. Clinical/phenotype data are matched to the International Paediatric and Congenital Cardiac Code(IPCCC) and the International Statistical Classi?cation of Diseases and Related Health Problems 10 th Revision(ICD-10). The DNA collection currently comprises samples from approximately 4200 participants with a wide range of CHD phenotypes.The collection covers about 430 trios and 120 families with more than one affected member. The cardiac tissue collection comprises 1143 tissue samples from 556 patients after open heart surgery.     

Aspectos actuales de las enfermedades invasivas por hongos filamentosos

Invasive fungal infections have become a major cause of morbimortality in intensive care patients, persons suffering from cancer or immune deficiencies, and other diseases with impaired immunity. Candida albicans remains the most frequent fungal pathogen, but advances in the diagnosis, prevention and treatment of invasive candidiasis are leading to important etiological changes. Among the emerging invasive mycoses, are those caused by filamentous fungi, such as Aspergillus, Lomentospora/Scedosporium, Fusarium or the Mucorales. Invasive aspergillosis is difficult to diagnose, and although there are diagnostic tools available, their use is not widespread, and their effectiveness vary depending on the group of patients. Clinical suspicion in high-risk patients, radiological diagnosis and the use of biomarkers, such as 1,3-β-D-glucan and galactomannan, can be of great help. However, diagnostic resources are limited in other mycoses, but radiology, pathological studies and the microbiological diagnosis can be useful. The high mortality of these mycoses requires early empirical antifungal treatment in many cases. Voriconazole is the first choice for treatment of the majority of aspergillosis, scedosporiasis, fusariosis and other hyalohyphomycoses. The treatment of mucormycoses, Lomentospora prolificans infections or mycoses by dematiaceous fungi are more complicated. Amphotericin B is active against many mucoralean fungi, but the combination of two or more antifungal agents could be a therapeutic alternative in many amphotericin B-refractory mycoses. Current clinical challenges include improving the diagnosis and the treatment of these mycoses, along with improving the adequate prevention in patients at high risk of suffering from them.     

Chronic pulmonary histoplasmosis in the State of Rio de Janeiro,Brazil

Three cases of chronic pulmonary histoplasmosis affecting aged patients with chronic obstructive pulmonary disease are reported. They had a history of recurrent episodes of respiratory infection and presented radiological lung lesions inducing a misdiagnosis of chronic pulmonary tuberculosis of the adults. The diagnosis of histoplasmosis, suggested by the immunodiffusion test and the detection of yeastlike cells in smeared and stained sputum, was confirmed by the isolation and identification of Histoplasma capsulatum var. capsulatum in selective media. The treatment was carried out with amphothericin B and ketoconazole or itraconazole. Clinical, radiologic, mycologic and serologic improvement was obtained in all the patients. However, relapses occurred within a period of 1 to 18 months after the interruption of the treatment. Mycological diagnosis and the difficulties observed in the tretament were discussed. In addition data on the epidemiology of histoplasmosis in the state of Rio de Janeiro, Brazil, were presented. This revised version was published online in June 2006 with corrections to the Cover Date.     

进行性骨化性纤维增殖不良症临床及基因突变分析

目的:研究一例具有超经典型临床特征的FOP患者,并对其ACVR1/ALK2基因进行分析。方法:根据患者的大踇趾畸形和进行性异位骨化等表现进行临床诊断,确诊为FOP。经患者及家属同意,采集患者、父母外周血,提取DNA,通过PCR扩增并直接测序测定ACVR1基因全部外显子序列,以此来确定突变位点。结果:患者具有超经典型FOP的临床表现:先天性大踇趾畸形,先天性双手拇指、食指远端关节僵直和进行性异位骨化,父母无FOP的相关临床表现。基因测序分析示该患者在ACVR1第七外显子发现存在c.1067G>A(p.G356D)杂合错义突变,而其父母无此杂合突变。结论:该患者在ACVR1的c.1067G>A(p.G356D)发生杂合错义突变,这有助于我们更好地理解认识中国FOP患者的临床表现和发病机制。     

Experimental Actinobacillus pleuropneumoniae challenge in swine: Comparison of computed tomographic and radiographic findings during disease

ABSTRACT: BACKGROUND: In pigs, diseases of the respiratory tract like pleuropneumonia due to Actinobacillus pleuropneumoniae (App) infection have led to high economic losses for decades. Further research on disease pathogenesis, pathogen-host-interactions and new prophylactic and therapeutic approaches are needed. In most studies, a large number of experimental animals are required to assess lung alterations at different stages of the disease. In order to reduce the required number of animals but nevertheless gather information on the nature and extent of lung alterations in living pigs, a computed tomographic scoring system for quantifying gross pathological findings was developed. In this study, five healthy pigs served as control animals while 24 pigs were infected with App, the causative agent of pleuropneumonia in pigs, in an established model for respiratory tract disease. RESULTS: Computed tomographic (CT) findings during the course of App challenge were verified by radiological imaging, clinical, serological, gross pathology and histological examinations. Findings from clinical examinations and both CT and radiological imaging, were recorded on day 7 and day 21 after challenge. Clinical signs after experimental App challenge were indicative of acute to chronic disease. Lung CT findings of infected pigs comprised ground-glass opacities and consolidation. On day 7 and 21 the clinical scores significantly correlated with the scores of both imaging techniques. At day 21, significant correlations were found between clinical scores, CT scores and lung lesion scores. In 19 out of 22 challenged pigs the determined disease grades (not affected, slightly affected, moderately affected, severely affected) from CT and gross pathological examination were in accordance. Disease classification by radiography and gross pathology agreed in 11 out of 24 pigs. CONCLUSIONS: High-resolution, high-contrast CT examination with no overlapping of organs is superior to radiography in the assessment of pneumonic lung lesions after App challenge. The new CT scoring system allows for quantification of gross pathological lung alterations in living pigs. However, computed tomographic findings are not informative of the etiology of respiratory disease.     

非粒细胞减少患者肺曲霉病22例回顾性分析

目的提高对非粒细胞减少患者肺曲霉病的认识及诊疗水平。方法回顾性分析22例非粒细胞减少患者肺曲霉病的临床、影像学及实验室资料,随诊其转归。结果22例肺曲霉病（PA）患者,男性12例,女性10例,平均年龄（56．3±21．4）岁。确诊、临床诊断各8例,拟诊6例。侵袭性肺曲霉病（IPA）11例,单纯性曲霉球6例,慢性坏死性肺曲霉病（CNPA）5例。常见基础疾病为继发型肺结核（8／22）、糖尿病或类固醇性糖尿病（6／22）、高血压病（5／22）、慢性阻塞性肺疾病（5／22）,4例系原发社区感染。常见临床症状咳嗽咳痰（18／22）、咯血（11／22）、气促（7／22）。影像学表现为肺部渗出或实变病灶9例、空洞改变及典型曲霉球12例,结节或肿块1例。首选药物治疗依次为伏立康唑（10／22）、卡泊芬净（4／22）、伊曲康唑（3／22）。结论非粒细胞减少伴IPA好发于糖尿病、慢性阻塞性肺疾病,亦可发生在免疫功能正常患者。单纯曲霉球多继发或并发于肺结核。应注意鉴别CNPA与单纯曲霉球。IPA临床表现缺乏特征性。影像改变未见典型晕征及空气半月征,肺外播散少见,药物治疗首选伏立康唑。     

Radiological progression and lung function in silicosis: a ten year follow up study.

Chest radiographs and spirometric tests were performed on 81 patients who had silicosis from two granite quarries in 1975, 73 of whom were followed up for two to 10 (mean 7.2) years. Each patient''s initial and most recent chest radiographs were assessed independently by three experienced readers, and the yearly declines in forced expiratory volume in one second and forced vital capacity were estimated from two to four (mean 3.45) serial spirometric readings. Estimates of individual dust exposure were based on extensive historical data on hygiene. All but 11 patients were no longer exposed to dust by the start of follow up, but 24 (45%) of 53 patients who had simple silicosis and 11 (55%) of 20 who had the complicated disease showed radiological evidence of disease progression. In patients who had simple silicosis and showed no radiological progression the yearly declines in forced expiratory volume in one second and forced vital capacity were modest (64 ml/year and 59 ml/year, respectively), whereas significantly greater declines in lung function were seen in those who showed radiological evidence of progression (97 ml/year and 95 ml/year, respectively). In addition to radiological progression the previous average dust concentration to which patients had been exposed also influenced declines in both forced expiratory volume in one second and forced vital capacity after allowing for the effects of age, smoking, duration of exposure, history of tuberculosis, initial state of disease, and baseline lung function. The probability of radiological progression was most strongly influenced by the average dust concentration previously exposed to. The progression of simple silicosis is thus accompanied by appreciable declines in lung function and is strongly affected by previous levels of exposure to dust.     

Bronchopulmonary sequestration and dextrocardia

Bronchopulmonary sequestration (BPS) is usually a rare congenital anomaly, which is most frequently extralobar or intralobar. The case of a patient with positional congenital anomaly--dextrocardia (situs thoracalis inversus) and intrapulmonary sequestration (IPS) is presented. Clinical and radiological characteristics of EPS and IPS are discussed, and new combinations of congenital anomalies with bronchopulmonary sequestration are described, dextrocardia and intrapulmonary sequestration. The importance of the algorithm of diagnostic examinations is emphasized, from detection of bronchopulmonary sequestration on the chest roentgenogram to establishing a definite diagnosis by means of angiography.     

Epileptische Enzephalopathie und Zahnschmelzdefekt (Kohlschütter-Tönz-Syndrom)

Kohlschütter-Tönz syndrome is a rare genetic disorder with neurologic symptoms – epilepsy and severe developmental delay – and defective enamel leading to yellow or brownish discoloration of teeth. The first family was described in 1974, all affected patients were male. In the meantime, families with both male and female patients were identified as well. Inheritance is thus most probably autosomal recessive; genetic heterogeneity can however not be ruled out. Clinical course and disease severity may differ even within one family. As the genetic basis has not yet been elucidated, diagnosis must be made on clinical grounds. We report three new children with Kohlschütter-Tönz syndrome in comparison to the 21 hitherto published cases.     

Nasu–Hakola Disease (Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy—PLOSL): A Dementia Associated with Bone Cystic Lesions. From Clinical to Genetic and Molecular Aspects

The authors review the clinical, radiological, electrophysiological, pathological, and molecular aspects of Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy or PLOSL). Nasu-Hakola disease is a unique disease characterized by multiple bone cysts associated with a peculiar form of neurodegeneration that leads to dementia and precocious death usually during the fifth decade of life. The diagnosis can be established on the basis of clinical and radiological findings. Recently, molecular analysis of affected families revealed mutations in the DAP12 (TYROBP) or TREM2 genes, providing an interesting example how mutations in two different subunits of a multi-subunit receptor complex result in an identical human disease phenotype. The association of PLOSL with mutations in the DAP12 or TREM2 genes has led to improved diagnosis of affected individuals. Also, the possible roles of the DAP12/TREM2 signaling pathway in microglia and osteoclasts in humans are just beginning to be elucidated. Some aspects of this peculiar signaling pathway are discussed here.     

Experimental model of staphylococcal osteomyelitis in dogs

Osteomyelitis was induced in 45 male dogs by inoculating hemolytic strain of Staphylococcus aureus alone into the tibial marrow cavity. Clinical, radiological and bacteriological studies were conducted to evaluate the progress of disease up to 15 weeks. Clinical signs consisted of localized soft tissue swelling, pain, pyrexia and lameness which later developed an open wound with purulent exudation. Predominant radiographic features were extensive periosteal reaction, cortical lysis, new bone formation, frequent development of sequestrum and formation of localized abscess pockets in advanced cases. Staphylococci were recovered from the tibial marrow cavity for as long as 15 weeks after onset of the infection.     

Familial Fibrocystic Pulmonary Dysplasia: A Detailed Family Study

Six cases of familial fibrocystic pulmonary dysplasia are described involving five siblings and their father. The clinical findings and radiological features were similar in all six patients although there was some variation in the period of survival following the onset of the disease. In three the diagnosis was confirmed pathologically; the two brothers, who did not have lung biopsies, had disturbances in respiratory function which are considered typical of the impaired diffusion produced by interstitial fibrosis. One hundred and five members of the family were surveyed for evidence of this disease, but no further cases were discovered. Four of the patients had some elevation of their gamma globulin. Immunoelectrophoretic analysis, which was performed on three of the patients, the two healthy siblings, and 16 of their offspring, showed elevated immunoglobulin patterns. This evidence suggests the possibility of an inherited aberration in the immune response in this family.     

The XXXXY Chromosome Anomaly: Report of Three New Cases and Review of 30 Cases from the Literature

The majority of abnormal sex chromosome complexes in the male have been considered to be variants of Klinefelter''s syndrome but an exception should probably be made in the case of the XXXXY individual who has distinctive phenotypic features. Clinical, radiological and cytological data on three new cases of XXXXY syndrome are presented and 30 cases from the literature are reviewed. In many cases the published clinical and radiological data were supplemented and re-evaluated. Mental retardation, usually severe, was present in all cases. Typical facies was observed in many; clinodactyly of the fifth finger was seen in nearly all.Radiological examination revealed abnormalities in the elbows and wrists in all the 19 personally evaluated cases, and other skeletal anomalies were very frequent. Cryptorchism is very common and absence of Leydig''s cells may differentiate the XXXXY chromosome anomaly from polysomic variants of Klinefelter''s syndrome. The relationship of this syndrome to Klinefelter''s syndrome and to Down''s syndrome is discussed.     

Clonorchiasis: an update

Clonorchis sinensis, the Chinese or oriental liver fluke, is an important human parasite and is widely distributed in southern Korea, China (including Taiwan), Japan, northern Vietnam and the far eastern part of Russia. Clonorchiasis occurs in all parts of the world where there are Asian immigrants from endemic areas. The human and animal reservoir hosts (dogs, pigs, cats and rats) acquire the infection from the ingestion of raw fish containing infectious metacercariae. The first intermediate snail hosts are mainly species of Parafossarulus and Bithynia. Numerous species of freshwater fish serve as the second intermediate hosts of C. sinensis. Extensive studies of clonorchiasis during several decades in Japan, Korea, China and other countries have shown much progress in proving its morphological features including ultrastructure, biology, pathogenesis, epidemiology, clinical manifestations and chemotherapy. The present review deals with mainly current results obtained on the epidemiological, pathological and clinical aspects, as well as control measures in endemic areas. As for the complications of clonorchiasis, formation of calculi in the intrahepatic biliary passages is one of the most characteristic pathological features. It is sometimes accompanied by suppurative cholangitis, cholecystitis, cholangiohepatitis and ultimately can cause cholangiocarcinoma. Experimental results on the relationship to the occurrence of cholangiocarcinoma are presented. Clinical diagnosis by radiological findings including cholangiography, sonography and computerized tomography as well as magnetic resonance imaging for biliary or pancreatic ducts are outlined. Current studies on immunology and molecular biology of C. sinensis were introduced. Praziquantel is the drug of choice for clonorchiasis. The most effective regimen is 25 mg kg(-1) three times daily (total dose, 75 mg kg(-1)) administered orally at 5- to 6-h intervals over a single day. Prevention and control measures are also discussed.     

Underestimation of cancer in case of diagnosis of atypical ductal hyperplasia (ADH) by vacuum assisted core needle biopsy

BackgroundWith the introduction of mammography screening, we are more often dealing with the diagnosis of precancerous and preinvasive breast lesions. An increasing number of patients are observed to show a premalignant change of ADH (atypical ductal hyperplasia). It also involves a wider use of the vacuum assisted core biopsy as a tool for verifying nonpalpable changes identified by mammography.AimThis paper describes our experience of 134 cases of ADH diagnosed at Mammotome^® vacuum core needle biopsy.Material and methodsOf 4326 mammotomic biopsies performed at our institution in 2000–2006, ADH was diagnosed in 134 patients (3.1%). Patients underwent surgery to remove the suspected lesion. All histopathological blocks were again reviewed by one pathologist. Clinical, radiological and pathological data were collected for statistical evaluation.ResultsUnderestimation of invasive changes occurred in 12 patients (9%). The only clinicopathologic feature of statistical significance radiologically and pathologically was the presence of radial scar in the mammography.ConclusionsMore frequent diagnosis of precancerous changes in the mammotomic breast biopsy forces us to establish a clear clinical practice. The problem is the underestimation of invasive changes. The occurrence of radial scar on mammography for diagnosis of the presence of ADH increases the risk of invasive changes.     

Fine needle aspiration cytology of primitive neuroectodermal tumors. A report of these cases.

Primitive neuroectodermal tumor (PNET) is a small round cell malignancy arising in soft tissue and bone, predominantly in older children and adolescents. We report the cytomorphologic features and findings of ancillary studies of eight fine needle aspiration (FNA) biopsies from three patients (7-year-old male, 12-year-old female, 9-year-old female). Two of the biopsies suggested the initial diagnosis of PNET of the chest wall, while the remaining six documented recurrent or metastatic disease. In one of these cases the primary diagnosis made by FNA biopsy enabled the pediatric oncologists to give specific therapy for the unresectable tumor and achieve remission. Local recurrences included the chest wall (two cases), pleura (one case) and pericardium (one case), while metastatic disease involved the supraclavicular lymph node and breast. All the cases consisted of small malignant cells with a high nuclear/cytoplasmic ratio and hyperchromatic nuclei without prominent nucleoli. Homer Wright rosettes were seen in only two of the aspirates, and neuropil and ganglion cells were not present. Ancillary studies, including electron microscopy (two cases), immunocytochemistry (four aspirates from two cases) and cytogenetics (11/22 translocation, one case) performed on the aspirated material were aids in making a specific diagnosis and excluded other small round cell tumors of childhood, such as malignant lymphoma, rhabdomyosarcoma and Ewing's sarcoma. The differential diagnosis between PNET and neuroblastoma can be difficult on the basis of an FNA biopsy alone, although light microscopic morphologic differences exist. Clinical features (e.g., age, primary site, metastatic patterns), catecholamine levels, electron microscopy and cytogenetics are necessary in establishing the correct diagnosis.