Pneumothorax after a clinical breast fine-needle aspiration of a lump in a patient with Poland's syndrome

We report the first case in the medical literature of a pneumothorax complicating fine needle aspiration cytology (FNAC) of a breast lump in a woman with a mild form of Poland's syndrome. The pneumothorax was treated conservatively. This is the first case of breast FNA-related pneumothorax seen in our clinical practice. We believe that the absence of pectoral muscles has increased the risk of this complication. We have also diagnosed an incidental screen-detected breast cancer affecting the ipsilateral breast in the same patient. We conclude that caution should be exercised when performing FNAC of breast lesions in patients with Poland's syndrome. The procedure should be preferably performed under image guidance in such patients in order to minimise the risk of this complication.     

Sweet's syndrome – a comprehensive review of an acute febrile neutrophilic dermatosis

Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis. Several hundreds cases of Sweet's syndrome have been published. Sweet's syndrome presents in three clinical settings: classical (or idiopathic), malignancy-associated, and drug-induced. Classical Sweet's syndrome (CSS) usually presents in women between the age of 30 to 50 years, it is often preceded by an upper respiratory tract infection and may be associated with inflammatory bowel disease and pregnancy. Approximately one-third of patients with CSS experience recurrence of the dermatosis. The malignancy-associated Sweet's syndrome (MASS) can occur as a paraneoplastic syndrome in patients with an established cancer or individuals whose Sweet's syndrome-related hematologic dyscrasia or solid tumor was previously undiscovered; MASS is most commonly related to acute myelogenous leukemia. The dermatosis can precede, follow, or appear concurrent with the diagnosis of the patient's cancer. Hence, MASS can be the cutaneous harbinger of either an undiagnosed visceral malignancy in a previously cancer-free individual or an unsuspected cancer recurrence in an oncology patient. Drug-induced Sweet's syndrome (DISS) most commonly occurs in patients who have been treated with granulocyte-colony stimulating factor, however, other medications may also be associated with DISS. The pathogenesis of Sweet's syndrome may be multifactorial and still remains to be definitively established. Clinical and laboratory evidence suggests that cytokines have an etiologic role. Systemic corticosteroids are the therapeutic gold standard for Sweet's syndrome. After initiation of treatment with systemic corticosteroids, there is a prompt response consisting of dramatic improvement of both the dermatosis-related symptoms and skin lesions. Topical application of high potency corticosteroids or intralesional corticosteroids may be efficacious for treating localized lesions. Other first-line oral systemic agents are potassium iodide and colchicine. Second-line oral systemic agents include indomethacin, clofazimine, cyclosporine, and dapsone. The symptoms and lesions of Sweet's syndrome may resolved spontaneously, without any therapeutic intervention; however, recurrence may follow either spontaneous remission or therapy-induced clinical resolution.     

The pathogenesis of autism: insights from congenital blindness

There is substantial heterogeneity in the aetiology and clinical presentation of autism. So how do we account for homogeneity in the syndrome? The answer to this question will be critical for any attempt to trace the links between brain pathology and the psychological disabilities that characterize autism. One possibility is that the source of homogeneity in autism is not to be found ''in the child'', but rather in dysfunction of the system constituted by child-in-relation-to-other. We have been exploring this hypothesis through the study of congenitally blind children, among whom features of autism, and the syndrome of autism itself, are strikingly common. To justify such an approach, one needs to establish that the clinical features in blind children have qualities that are indeed ''autistic-like''. We conducted systematic observations of the social interactions of two matched groups of congenitally blind children who do not have autism, rating their social engagement, emotional tone, play and language during three sessions of free play in the school playground. The qualities of social impairment in the more disabled children were similar to those in sighted children with autism. Additional evidence came from independent ratings of the children in a different play setting: on the childhood autism rating scale (CARS), the socially impaired children had ''autistic-like'' abnormalities in both social and non-social domains. If we can determine the way in which congenital blindness predisposes to features of autism, we shall be in a better position to trace the developmental pathways that lead to the syndrome in sighted children.     

Waardenburg's Syndrome and Heterochromia Iridum in a Deaf School Population

Waardenburg''s syndrome consists of lateral displacement of the inner canthi of the eyes (dystopia canthorum), a broad nasal root and confluent eyebrows, heterochromia iridum, a white forelock and congenital deafness. The syndrome is inherited as a dominant, but affected individuals do not necessarily have all of the characteristics cited.Five hundred and fourteen pupils at a school for the deaf were screened for features of this syndrome. Three cases were discovered. Eleven other deaf children were found to have heterochromia iridum and two more had white forelocks. The interocular dimensions of the remaining children were recorded as standards by which to judge the presence of dystopia canthorum. The results of chromosomal analysis in two cases with Waardenburg''s syndrome were normal.The findings provide further evidence that Waardenburg''s syndrome is a distinct entity and call in question Mackenzie''s concept of a comprehensive “first arch syndrome”.     

The XXXXY Sex Chromosome Abnormality

The most common sex chromosome complex in sex chromatin-positive males with Klinefelter''s syndrome is XXY. When the complex is XXYY or XXXY, the clinical findings do not seem to differ materially from those seen in XXY subjects, although more patients with these intersexual chromosome complements need to be studied to establish possible phenotypical expressions of the chromosomal variants.Two male children with an XXXXY sex chromosome abnormality are described. The data obtained from the study of these cases and five others described in the literature suggest that the XXXXY patient is likely to have congenital defects not usually seen in the common form of the Klinefelter syndrome. These include a triad of (1) skeletal anomalies (including radioulnar synostosis), (2) hypogenitalism (hypoplasia of penis and scrotum, incomplete descent of testes and defective prepubertal development of seminiferous tubules), and (3) greater risk of severe mental deficiency.That the conclusions are based on data from a small number of patients is emphasized, together with the need for a cytogenetic survey of a large control or unselected population.     

Ocular dermoids

The following types of ocular dermoids were seen in a retrospective study of 50 children with these lesions: 34 epibulbar dermoids, 12 lipodermoids, and 4 dermoid cysts. Forty-six percent had hemifacial microsomia, and one-half of these had additional stigmata of the Goldenhar variant of the syndrome. Ninety-seven percent of the dermoids were found in the temporal half of the globe; of these, 76 percent were in the inferolateral quadrant, straddling the corneoscleral limbus. The majority of children had an oblique astigmatism in the involved eye. Epibulbar dermoids may be removed by careful superficial keratectomy, but caution should be exerted in excising lipodermoids because of the risks of affecting ocular motility and tear secretion.     

Odontogenic tumors in Nigerian children and adolescents- a retrospective study of 92 cases

Background

Tumours arising from odontogenic tissues are rare and constitute a heterogenous group of interesting lesions. The aim of this study was to determine the relative frequency of odontogenic tumors (OT) among Nigerian children and adolescents 19 years or younger.

Patients and methods

The histopathology records were retrospectively reviewed for all the tumors and tumor-like lesions of the oral cavity and the jaws seen in children and adolescents ≤ 19 years seen between January 1980 and December 2003. Hematoxylin and eosin-stained sections were re-evaluated and the diagnosis in each case was confirmed or modified according to World Health Organization (WHO) classification, 1992; and were subjected to analysis of age, sex, site of tumor and histopathologic type.

Results

A total of 477 tumors and tumor-like lesions were seen in patients ≤ 19 years during the period of the study. Of these, 92 (19.3%) were odontogenic tumors. Benign odontogenic tumors constituted 98.9% of the cases seen, while only 1 case (1.1%) of malignant variety was seen during the period. The mean (SD) age of patients was 14.9 (± 3.1) years (range, 4–19 years). Male-to-female ratio was 1:1; and mandible-to-maxilla ratio was 2.7:1. OT's were most frequently seen in patients aged 16–19 years (46.7%) and the least number (2.2%) were found in patients aged 0–5 years. Among nine histologic types of OT seen, ameloblastoma (48.9%), adenomatoid odontogenic tumor (19.6%) and odontogenic myxoma (8.7%) were predominant. Multicystic/solid and unicystic variants of ameloblastoma were diagnosed in 40 (89%) and 5 (11%) cases respectively.

Conclusions

Odontogenic tumors are relatively common in children and adolescents in Nigeria. One out of every 5 children and adolescents with tumors and tumor-like lesions of oral cavity and the jaws seen in this study had a diagnosis of odontogenic tumor.

     

炎症相关因子在血管性痴呆发病机制中的作用

血管性痴呆（vascular dementia,VD）是指由各种脑血管病,包括缺血性脑血管病、出血性脑血管病及急性与慢性缺氧性脑血管病引起的脑功能障碍,进而产生认知功能障碍的临床综合征。血管性痴呆是一种慢性进行性疾病,被认为是仅次于阿尔兹海默症,导致痴呆的第2位原因。目前,血管性痴呆的发病机制尚不明确,有可能与炎症、神经元损伤、胆碱能系统功能障碍、脑白质病变及氧化应激等有关。其中,炎症反应在急性与慢性脑缺血继发性脑损伤中起主要作用。抑制炎症能改善血管性痴呆动物模型的症状,显示炎症可能在血管性痴呆发病机制中发挥重要作用。参与炎症反应的相关因子,如细胞因子等可对中枢神经系统造成损伤。同时,炎症相关因子会触发炎症级联反应,加重脑损伤。本文总结了有关炎症相关因子参与导致血管性痴呆的各种病理损害和促进其发生发展的分子机制的最新研究进展,这些都有助于了解炎症相关因子在血管性痴呆发病机制中的作用。     

马尔尼菲蓝状菌病致溶骨性损害合并Sweet样皮疹1例

本文报道广西医科大学第一附属医院皮肤性病科收治的马尔尼菲蓝状菌病致溶骨性损害合并Sweet样皮疹1例。免疫力正常人群较少患马尔尼菲蓝状菌病。本例患者既往体健,起初合并融骨性损害,在两性霉素B、伊曲康唑治疗过程中逐渐出现Sweet样皮疹。患者经两性霉素B、伊曲康唑、激素等治疗后,病情逐渐好转。     

Idiopathic Orbital Inflammation Syndrome with Retro-Orbital Involvement: A Retrospective Study of Eight Patients

Background

The aim of this retrospective study was to document the clinical findings and radiological features of idiopathic orbital inflammation syndrome with retro-orbital involvement.

Methods

We searched for ophthalmological patients who received orbital imaging at Zhejiang Provincial People''s Hospital between October 2003 and April 2010. Seventy-three patients were diagnosed with idiopathic orbital inflammation syndrome based on clinicoradiological features, with pathological confirmation of nonspecific inflammatory conditions in 47 patients. Eight patients (11%) had MRI or CT evidence of retro-orbital involvement. All 8 patients were diagnosed with idiopathic orbital inflammation syndrome after biopsy of the orbital lesion. MR images were obtained for all 8 patients; 3 patients also had a contrast-enhanced CT scan.

Results

Seven out of 8 patients with retro-orbital involvement also had orbital apex lesions. Of the 65 patients without retro-orbital involvement, 19 had orbital apex lesions. The difference in the number of patients with orbital apex lesions between the two populations was significant (Fisher exact test P = .002). In all 8 patients with retro-orbital involvement, the inflammation spread through the superior orbital fissure. The retro-orbital lesions were isointense to grey matter on T1-weighted images, hypointense on T2-weighted images, and displayed uniform contrast enhancement; on contrast-enhanced CT scans, they were hyperdense relative to the contralateral mirror area and had radiological contours that were similar to those seen on MR images. The diffuse inflammation with marked sclerosis and hyalinization that we observed in the patients with retro-orbital involvement is consistent with the diagnosis of the sclerosing subtype of idiopathic orbital inflammation syndrome. All 8 patients also complained of mild to moderate periorbital pain (headache).

Conclusions

In patients with idiopathic orbital inflammation syndrome, it is important to perform MRI and CT scans to identify possible retro-orbital involvement. Retro-orbital involvement is more frequent when the lesion is present in the orbital apex.     

Upper gastrointestinal Kaposi's sarcoma in patients positive for HIV antibody without cutaneous disease

Six patients with antibodies to the human immunodeficiency virus (HIV) and with persistent gastrointestinal symptoms of HIV infection but without cutaneous lesions of Kaposi''s sarcoma underwent endoscopy. Four also underwent barium meal examination. In all six cases small lesions were seen in the stomach at endoscopy, and histological examination of biopsy specimens taken from the lesions confirmed the diagnosis of Kaposi''s sarcoma. The barium meal examinations were reported as normal in three patients and showed oesophageal candidiasis in the fourth.These findings suggest that Kaposi''s sarcoma of the upper gastrointestinal tract is common in patients positive for HIV antibody, even those without cutaneous lesions. Endoscopy, with biopsy of suspicious lesions, is necessary to make the diagnosis and is recommended in all HIV antibody positive patients with persistent upper gastrointestinal symptoms.     

Prenatal and postnatal prevalence of Turner's syndrome: a registry study.

OBJECTIVE--To study prevalence of Turner''s syndrome in Denmark and to assess validity of prenatal diagnosis. DESIGN--Study of data on prenatal and postnatal Turner''s syndrome in Danish Cytogenetic Central Register. SUBJECTS--All registered Turner''s syndrome karyotypes (100 prenatal cases and 215 postnatal cases) during 1970-93. MAIN OUTCOME MEASURES--Prevalence of Turner''s syndrome karyotypes among prenatally tested fetuses and Turner''s syndrome among liveborn infants. RESULTS--Among infant girls, prevalence of Turner''s syndrome was 32/100,000. Among female fetuses tested by amniocentesis, prevalence of Turner''s syndrome karyotypes was 176/100,000 (relative risk of syndrome, 6.74 compared with prevalence among untested pregnancies). Among female fetuses tested by chorion villus sampling, prevalence of syndrome karyotypes was 392/100,000 (relative risk, 16.8). We excluded prenatal tests referred because of results of ultrasound scanning: among fetuses tested by amniocentesis revised relative risk was 5.68, while revised relative risk among fetuses tested by chorion villus sampling was 13.3. For 29 fetuses with prenatal diagnosis of possible Turner''s syndrome, pregnancy was allowed to continue and 24 children were live born. Thirteen of these children were karyotyped postnatally, and diagnosis of Turner''s syndrome had to be revised for eight, seven being normal girls and one boy. This gives tentative predictive value of amniocentesis in diagnosing Turner''s syndrome of between 21% and 67%. There was no significant relation between mother''s age and risk of Turner''s syndrome. CONCLUSIONS--Discrepancy between prenatal and postnatal prevalence of Turner''s syndrome challenges specificity of prenatal examination in diagnosing Turner''s syndrome.     

DISTINCTIVE DIAGNOSTIC FEATURES OF MATERIAL ASPIRATED FROM MARROW IN METABOLIC BONE DISEASES

In a series of cases of Paget''s disease of the bone, two types of cells not previously described were observed in material aspirated from bone marrow in areas of osteitis deformans. One type was mononuclear, the other was giant, multinucleated and syncytial. They have been identified as osteoblasts and osteoclasts, respectively. The identification was based mainly on correlation with the histologic picture of osteitis deformans and of normal-growing bones as seen in section studies.Both osteoblasts and osteoclasts were recovered in aspirated bone marrow material in other instances of metabolic bone diseases associated with increased bone repair and bone resorption—in hyperparathyroidism, osteoblastic malignant lesions, rickets, hemolytic anemia in children, and in normal infants in the growth zone of bone in the tibia. They were not seen in senile and postmenopausal osteoporosis.Recognition of osteoblasts and osteoclasts in smear preparations from aspirated bone marrow material may serve as a diagnostic aid in metabolic bone diseases.The differentiation of osteoblasts from neoplastic cells is important in cases in which metastatic cancer of the bone is suspected and x-ray findings are inconclusive.     

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.     

Is a compromised interferon response an etiologic factor in Reye's syndrome?

Young mice injected with sublethal doses of Toximul MP8, a typical commercial polyoxyethylene ether-based emulsifier, died more frequently when infected with encephalomyocarditis virus than did control mice. Lymphocytes taken from emulsifier-injected mice responded poorly to interferon induction, unlike lymphocytes from control animals. Interferon protected control mice against viral encephalomyocarditis, but such protection was not equally demonstrable in emulsifier-injected mice. These data suggest that the enhanced lethality of encephalomyocarditis virus in emulsifier-injected mice is associated with and perhaps caused by a compromised interferon response in these animals. Since these emulsifiers are commonly found in the environment in areas where forests are sprayed with pesticides, a group of children suffering from Reye''s syndrome who lived in such areas was investigated. Blood samples were obtained from five children with influenza B-associated Reye''s syndrome during their acute illness and during convalescence. Lymphocytes obtained from these samples and from peripheral blood samples from healthy children (controls) were induced to synthesize interferon by exposure to Newcastle disease virus. The lymphocytes from the convalescent patients and from the controls responded well to induction. However, the lymphocytes obtained from patients and from the controls responded well to induction. However, the lymphocytes obtained from patients during the acute phase of Reye''s syndrome responded very poorly and produced significantly less interferon.     

Psychopathology in adolescent children of physicians.

The clinical records of 27 adolescent children of physicians who were treated in a psychiatric unit for adolescents were studied. Most of the children had been referred by their physician fathers for evaluation of conduct or mood disorders. These referrals were often the focus of family distress. There appeared to be no typical syndrome presented by physicians'' children. Those treating such patients should be especially sensitive to the possibility that parental denial will increase the patient''s resistance to therapy. Family therapy, an effective treatment for psychologic problems in adolescents, is often avoided by physicians.     

Autosomal Trisomies and Partial Trisomy Syndromes: (With Presentation of Two Cases of Partial Trisomy for the E Group of Chromosomes)

The establishing of 46 chromosomes as the normal complement in man and the report of the sex chromatin bodies in buccal smears were followed by reports of trisomies and other abnormal patterns of the X and Y chromosomes in Klinefelter''s and Turner''s syndromes. Abnormal autosomal complements were described in mongolism, in the E-trisomy syndrome, the D-trisomy syndrome, in the Sturge-Weber syndrome, Waldenstrom''s macroglobulinemia, benign congenital hypotonia, atrial septal defect and in the schizoid personality. Certain of these conditions, as well as the “oral-facial-digital” syndrome, were also found to exist as partial trisomies. The mechanism of a trisomy is one of non-disjunction and of partial trisomy translocation or insertion. Two cases of the partial trisomy in the E group are described; these are of especial interest because of the familial incidence, longer survival and male sex occurrence, features which are rarely seen in the full E-trisomy syndrome.     

酒精成瘾诱发的假性库欣综合征一例报道及文献复习

目的报道1例由慢性酒精成瘾诱发的假性库欣综合征,以扩展临床医师对酒精危害及其导致疾病谱的认识。方法对本院发现的1例假性库欣综合征病例的病因进行分析,其临床特点进行对比观察,国内外相关文献报道进行复习总结。结果患者入院后发现皮质醇增多,小剂量地塞米松抑制试验不被抑制,大剂量地塞米松抑制试验被抑制。垂体、肾上腺及其他部位都未发现占位性病变。戒酒后20d皮质醇水平恢复正常,规律随访半年,皮质醇水平及节律无明显异常。诊断为假性库欣综合征。文献复习结果筛选出65篇相关病例报道,对65篇文献报道的慢性酒精成瘾诱发的假性库欣综合征与库欣综合征临床症状和体征进行分析总结,结果只在肌肉萎缩及乏力和中心性肥胖等方面发现了微细差别。结论长期大量饮酒可通过多种机制诱发假性库欣综合征,与真性皮质醇增多症的鉴别比较困难,临床上需结合患者的临床表现、体格检查以及实验室检查结果与库欣综合征进行鉴别,其中重要的方法是通过观察检测戒酒后的一些生化学检查指标进行鉴别和确诊,以防造成误诊而致过度医疗。     

Gastrointestinal bleeding in the pediatric patient.

Gastrointestinal hemorrhage in infants and children is a catastrophic event but is not associated with significant mortality except in those with a severe primary illness. Upper gastrointestinal bleeding in infants and young children is most often associated with stress ulcers or erosions, but in older children it may also be caused by duodenal ulcer, esophagitis, and esophageal varices. Lower gastrointestinal bleeding may be caused by a variety of lesions among which are infectious colitides, Meckel''s diverticulum, bleeding disorders, gastrointestinal allergy, and inflammatory bowel disease. Techniques of diagnosis and management are discussed.     

Differences Between Vascular and Plaque Core Amyloid in Alzheimer's Disease

Abstract: The predominant protein of cerebrovascular and plaque core amyloid in Alzheimer's disease, Down's syndrome, hereditary hemorrhage with amyloidosis—Dutch type, sporadic cerebral amyloid angiopathy, and age-related amyloidosis is a unique polypeptide, called β protein. The length of the plaque amyloid protein was reported to be 42–43 residues, but the complete length of the cerebral vascular amyloid is not known. To clarify this issue, amyloid fibrils from the leptomeninges of an Alzheimer's disease patient were isolated and the primary structure determined. The complete sequence of cerebrovascular β-amyloid protein, although homologous to the plaque core amyloid protein previously reported, has 39 residues instead of 42. Amino terminal heterogeneity is present but minimal, and it is three residues shorter at the carboxy terminus. These differences are similar to those found in two cases of hereditary hemorrhage with amyloidosis—Dutch type. The differences between vascular and plaque β-amyloid may reflect diverse processing of the β protein precursor in the vessel wall and brain parenchyma due to tissue-specific endopeptidases.