Estrogen and progesterone receptors in gynecomastia

The etiology of gynecomastia is unknown. There seems to be no increased incidence of malignancies in patients with idiopathic gynecomastia; however, patients with Klinefelter syndrome exhibit an increased incidence of malignancy. The authors reviewed the results of 34 patients with gynecomastia diagnosed in adolescence who, following initial evaluation, had a mastectomy. The estrogen and progesterone receptors were analyzed in these patients. Three of the patients were diagnosed with Klinefelter syndrome. These three patients exhibited elevated amounts of estrogen and progesterone receptors. None of the patients who were not diagnosed with this syndrome demonstrated significant elevation of their estrogen or progesterone receptors. The presence of elevated estrogen and progesterone receptors in patients with Klinefelter syndrome provides a potential mechanism by which these patients may develop breast neoplasms. The absence of elevated estrogen and progesterone receptors in patients with idiopathic gynecomastia may serve to clarify why these patients' disease rarely degenerates into malignancy.     

Bloom Syndrome and Maternal Uniparental Disomy for Chromosome 15

Bloom syndrome (BS) is an autosomal recessive disorder characterized by increases in the frequency of sister-chromatid exchange and in the incidence of malignancy. Chromosome-transfer studies have shown the BS locus to map to chromosome 15q. This report describes a subject with features of both BS and Prader-Willi syndrome (PWS). Molecular analysis showed maternal uniparental disomy for chromosome 15. Meiotic recombination between the two disomic chromosomes 15 has resulted in heterodisomy for proximal 15q and isodisomy for distal 15q. In this individual BS is probably due to homozygosity for a gene that is telomeric to D15S95 (15q25), rather than to genetic imprinting, the mechanism responsible for the development of PWS. This report represents the first application of disomy analysis to the regional localization of a disease gene. This strategy promises to be useful in the genetic mapping of other uncommon autosomal recessive conditions.     

Sequelae to acromegaly: reversibility with treatment of the primary disease

Acromegalic patients suffer from a number of cardiovascular, metabolic, and rheumatologic problems, and they may also have an increased incidence of malignancy. We reviewed the literature concerning the reversibility of acromegalic complications. Hypertension, myocardial hypertrophy, left ventricular dysfunction and some rheumatologic abnormalities often continue despite successful treatment of the acromegaly. In contrast, glucose intolerance, soft tissue changes, and carpal tunnel syndrome usually resolve when the acromegaly is cured. Studies of the incidence and mortality of cancer in acromegaly are conflicting, but several suggest an increased incidence of colorectal cancer.     

蛋白质组学技术在恶性肿瘤研究中应用的新进展

人类基因组计划的完成使人类进入后基因组时代,蛋白质组学有了飞速的发展。作为基因的产物,蛋白质在人类的生命活动中扮演了重要的角色,21种不同的氨基酸可以根据遗传基因组合成数量庞大的蛋白质,而且又由于蛋白质的翻译后修饰使得蛋白质在表型上千变万化。不同的蛋白质在人体内具有相应的功能,而就现今发病人数不断增加,发病年龄越发年轻的肿瘤而言,蛋白质在其发生发展、侵袭以及转移等生物学特为中也起到了至关重要的作用。随着蛋白质组学的理论和技术的不断发展,该理论和技术已经被广泛应用于研究恶性肿瘤的发生和发展机制、侵袭和转移机制、各种生物标志物和药物作用靶点及赖药机制等方面的研究,发现了不少与之相关的差异性表达蛋白质。本文主要对蛋白质组学技术在恶性肿瘤研究中应用的最新进展进行了综述。     

Camptodactyly in Sotos syndrome

We describe a girl with Sotos syndrome presenting at two and a half years age with developmental delay. She has camptodactyly which has not previously been reported in Sotos syndrome but is a common finding in Weaver syndrome. Both these conditions have been reported to have NSD1 gene mutations. This report is consistent with the conditions being allelic.     

A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion

Fragile X syndrome is the most common cause of inherited mental retardation. The incidence has been estimated to be 1 in 1250 males and 1 in 2000 females. Molecular studies have shown that 95% of fragile X syndrome cases are caused by the expansion of a CGG triplet in the FMR1 gene with hypermethylation of the adjacent CpG island. In spite of the high incidence of this syndrome, a female with both FMR1 genes in the expanded form has never been reported. We present here a female from the Canary Islands presenting mental retardation and attention problems. Molecular analysis has revealed that both of her FMR1 genes have the CGG expansion, one with a premutation and the other with a full mutation. We have studied the CGG repeat in the FMR1 gene in 64 members of her family and detected 33 normal individuals, 14 carriers with the premutation (1 male and 13 females), and 18 individuals with full mutations (8 males and 10 females). The index case illustrates that the possibility of both parents being carriers of the fragile X syndrome premutation should be considered in consanguineous families or in small communities. Received: 4 April 1996 / Revised: 3 May 1996     

The Isaacs Endometrial Cell Sampler. An evaluation in 100 patients with postmenopausal bleeding

The Curity Isaacs Endometrial Cell Sampler was used to obtain cytologic material from 100 consecutive patients presenting with postmenopausal bleeding. It was followed by uterine curettage to obtain material for histology. Satisfactory endometrial aspiration smears were obtained from 92 patients, whereas curettage yielded endometrial tissue in only 48. Of 17 patients with histologic confirmation of malignancy, 7 had smears diagnosed as showing malignancy, and 7 had smears showing hyperplastic changes; 3 of the aspiration smears were judged to be unsatisfactory for cytologic evaluation. All the carcinomas were found in the hyperplastic, malignant or unsatisfactory smears. This technique is worthy of further study.     

Hirsutism: Diagnosis and management

Background:Hirsutism is defined as excess hair growth in androgen-dependent areas of the body in women.Objective: This article provides an updated review of hirsutism, focusing on the etiologies, clinical features, approach to diagnostic evaluation, and treatment options.Methods: The PubMed database was searched for English-language articles published from 1981 to the present, using the terms hirsutism, polycystic ovarian syndrome, congenital adrenal hyperplasia, hirsutism diagnosis, and hirsutism treatment. Reference lists from review articles on hirsutism during this time period were also examined.Results: While there are many causes of hirsutism, the majority of patients have a benign process that may be idiopathic. In some circumstances, hirsutism is a sign of functional ovarian hyperandrogenism or congenital adrenal hyperplasia. Even more rarely, it is the presenting sign of an internal malignancy.Conclusions: Hirsutism clinically presents in women as excessive hair growth in androgen-dependent areas. It is a particularly important diagnosis to make, because it often significantly affects a woman's perception of her femininity and less commonly can be a sign of an underlying malignancy or a cutaneous manifestation of a condition with significant cardiovascular or other morbidity. A variety of treatments exist to help minimize the appearance of unwanted hair.     

An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability

We have collected and studied the genealogical data of 8 patients with the autosomal recessive syndrome of microcephaly, normal intelligence, immunodeficiency, risk of malignancy and chromosomal instability resembling ataxia telangiectasia (AT), but different in complementation group. 50% of our probands died from lymphoreticular malignancies in early childhood. We have found a significantly increased incidence of malignant tumors in 142 blood relatives as compared with a control group of 87 spouses. All patients belonged to the same complementation group differing from the 5 known AT complementation groups, which seems to be in general more malignant than all other groups of AT. From this standpoint our material is homogeneous in contrast to other similar studies in AT families. We think this syndrome represents another model to examine the relationship between genetic background, chromosomal abnormalities, immunodeficiency and cancer development.     

Alpha-chain Disease with Pulmonary Manifestations

A case of alpha-chain disease of the pulmonary type is described in a man presenting with dyspnoea, mottling on chest x-ray picture, and a CO-transfer factor of 36%, suggestive of fibrosing alveolitis. The serum IgA consisted entirely of abnormal alpha chains devoid of light chains. This protein had the unusual property of reacting by immunofluorescence with rat mitochondria but not with human issues or with those of other species. Postmortem examination showed enlarged mediastinal lymph nodes with no evidence of malignancy or fibrosing alveolitis.     

Tubercular orchitis in a patient with AIDS: report of a case with fine needle aspiration diagnosis

BACKGROUND: Although tuberculosis is one of the most common opportunistic infections in AIDS, the testis is rarely involved. Clinically, tubercular orchitis mimics malignancy. Fine needle aspiration (FNA) can be used to distinguish these 2 lesions. CASE: A 34-year-old, heterosexual male presented with right scrotal swelling, loss of weight and fever. Clinically, malignancy was suspected. FNA showed a few lymphocytes and neutrophils in a necrotic background. Ziehl-Neelsen staining showed high acid-fast bacillus positivity. Serologic testing for HIV showed seropositivity for HIV I and II antibodies. CONCLUSION: FNA is a useful modality in differentiating tuberculosis from malignancy. In developing countries, tuberculosis should be considered in cases of unilateral testicular enlargement. To the best of our knowledge, this is the third reported case of AIDS presenting as testicular tuberculosis.     

An unusual presentation of paracoccidioidomycosis in an AIDS patient: A case report

A case of paracoccidioidomycosis presenting as a solitary pulmonary nodular lesion in a patient with acquired immunodeficiency syndrome (AIDS) is presented. This case illustrates that restricted lung lesions can also be found and diagnosed in immunodeficient patients. This revised version was published online in June 2006 with corrections to the Cover Date.     

Case of XXXXY syndrome. Development throughout adolescence and endocrine aspects

49,XXXXY syndrome is a very rare condition that is associated with a considerable more severe phenotype than classic 47,XXY Klinefelter syndrome. We present a patient with 49,XXXXY syndrome, who was first presented to an endocrinological unit at the age of 12.5 years with prepubertal genitalia. He was then lost from follow-up and showed clear clinical and biochemical signs of hypergonadotropic hypogonadism when presenting again at the age of 16 years. The patient was started on testosterone replacement therapy. This case is reported to underline the need for thorough endocrinological follow-up examinations in males with X polysomies.     

Cytodiagnosis of granulocytic sarcoma presenting as superior vena cava syndrome in acute myeloblastic leukemia. A case report.

We describe a rare case of acute myeloblastic leukemia presenting with superior vena cava syndrome due to a mediastinal granulocytic sarcoma. The morphologic diagnosis of granulocytic sarcoma was obtained from computed tomography-guided fine needle aspiration cytology. This is the second such case described in the world literature.     

Scintigraphically detected "hot" thyroid nodules in the specimens from patients of the Thyroid Disease Clinic in Gda'nsk--clinico- histopathological analysis

A group of 153 patients with scintigraphically detected autonomic "hot" nodules of the thyroid has been subjected to clinical and histopathological analysis. Substantial part of these patients (30.1%) had hyperthyroidism, partly (in 19.9% of cases) in the form of the thyrocardiac syndrome. A most frequent histopathological lesion found within "hot" nodules was follicular adenoma. The occurrence of malignancy in the form of highly differentiated thyroid carcinoma was observed in 2.6% of cases. The incidence of thyroid carcinoma within "hot" nodules was in our material only two and half times smaller than in a previously analyzed group of patients with "cold" nodules of the thyroid.     

A syngeneic glioma model to assess the impact of neural progenitor target cell age on tumor malignancy

Human glioma incidence, malignancy, and treatment resistance are directly proportional to patient age. Cell intrinsic factors are reported to contribute to human age-dependent glioma malignancy, but suitable animal models to examine the role of aging are lacking. Here, we developed an orthotopic syngeneic glioma model to test the hypothesis that the age of neural progenitor cells (NPCs), presumed cells of glioma origin, influences glioma malignancy. Gliomas generated from transformed donor 3-, 12-, and 18-month-old NPCs in same-aged adult hosts formed highly invasive glial tumors that phenocopied the human disease. Survival analysis indicated increased malignancy of gliomas generated from older 12- and 18-month-old transformed NPCs compared with their 3-month counterparts (median survival of 38.5 and 42.5 vs. 77 days, respectively). This study showed for the first time that age of target cells at the time of transformation can affect malignancy and demonstrated the feasibility of a syngeneic model using transformed NPCs for future examination of the relative impacts of age-related cell intrinsic and cell-extrinsic factors in glioma malignancy.     

Sheehan Syndrome Presenting as Central Diabetes Insipidus: A Rare Presentation of an Uncommon Disorder

ObjectiveTo add to the current scant literature on rare clinical presentations of Sheehan syndrome.MethodsWe describe the study patient’s clinical, laboratory, and imaging findings and review the literature for publications regarding varied clinical presentations of Sheehan syndrome.ResultsA 36-year-old multigravida woman developed severe postpartum hemorrhage and disseminated intravascular coagulation followed by Sheehan syndrome, with central diabetes insipidus as the primary presenting feature. This was diagnosed when, postoperatively, she developed polyuria with a urine output of 11 L in 24 hours with an accompanying rise in creatinine. She had laboratory evidence of diabetes insipidus, with serum osmolality greater than urine osmolality. Her clinical status improved significantly with intranasal desmopressin supplementation, thus confirming the diagnosis of Sheehan syndrome. Although Sheehan syndrome is a known complication of postpartum hemorrhage, central diabetes insipidus is seldom considered or suspected. Hypovolemia is usually presumed to be secondary to blood loss and polyuria resulting from a diuretic phase of acute renal failure.ConclusionsIt is important to consider posterior pituitary ischemia resulting from Sheehan syndrome presenting as central diabetes insipidus as a cause of polyuria because appropriate hormonal replacement initiated early can possibly improve clinical status and patient outcomes. (Endocr Pract. 2011;17:108-114)     

The lupus syndrome induced by hydralazine: a common complication with low dose treatment.

The true incidence of the lupus syndrome induced by hydralazine was determined in a longitudinal study of 281 patients consecutively starting hydralazine for hypertension over a 51 month period. Data on the duration of treatment and the maximum dose achieved were examined using life table analysis. After three years'' treatment with hydralazine the incidence of the lupus syndrome was 6.7% (95% confidence limits 3.2-10.2%). The incidence was dose dependent, with no cases recorded in patients taking 50 mg daily and incidences of 5.4% with 100 mg daily and of 10.4% with 200 mg daily. The incidence was higher in women (11.6%) than in men (2.8%). In women taking 200 mg daily the three year incidence was 19.4%. Hydralazine is an effective antihypertensive drug that has come to be used in restricted dosage (not more than 200 mg daily) because of its risk of inducing the lupus syndrome. This study shows that the true incidence of the syndrome is still unacceptably high even when the drug is prescribed according to current recommendations.     

Fryns syndrome: another example of non-lethal outcome with severe mental handicap.

In this report we present clinical data of a patient with Fryns syndrome who survived the neonatal period. Two sibs died intra-uterine. The syndrome is characterized by craniofacial dysmorphism, diaphragmatic hernia and distal limb hypoplasia. Lethality in most cases is caused by the diaphragmatic hernia with concomitant lung hypoplasia. In patients with Fryns syndrome presenting without the diaphragmatic defect and lung-hypoplasia, survival beyond the neonatal period is possible; mental retardation is present in all four patients described so far. This report illustrates, once more, the great intrafamilial variation of the syndrome and emphasises its important consequences for genetic counseling and prenatal diagnosis.     

Phosphoinositide 3-kinases in the gut: a link between inflammation and cancer?

Carcinoma of the gastrointestinal tract is the most common internal malignancy affecting men and women in Western countries. Chronic intestinal inflammation, especially of the colon, is also a Western disease and correlates with a significantly increased risk of developing cancer. This has suggested that the immune processes involved in both conditions might share some common pathways. Indeed, there is increasing evidence that phosphatidylinositol 3-kinases (PI 3-kinases) are involved in both the pathogenesis of colorectal carcinoma and intestinal inflammation. Here, we discuss this rapidly progressing area of research, presenting evidence for a pivotal role of PI 3-kinase(s) in intestinal pathophysiology.