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Male Patients (male + patient)
Kinds of Male Patients Selected AbstractsIntracystic Papillary Carcinoma of the Breast in a Male Patient Diagnosed by Ultrasound-Guided Core Biopsy: A Case ReportTHE BREAST JOURNAL, Issue 6 2002Anna Pacelli MD Male breast cancer is an uncommon disease with an incidence of approximately 1% of all breast cancers. We report a case of intracystic papillary carcinoma of the breast occurring in a 67-year-old man in whom the diagnosis was made by ultrasound-guided core biopsy. This report represents the first reported intracystic papillary carcinoma diagnosed by core biopsy and illustrates the cost-effectiveness of this technique in a male patient in providing diagnostic material and allowing for expeditious planning of definitive treatment. [source] Bilateral Orbital Metastases as the Presenting Finding in a Male Patient with Breast Cancer: A Case Report and Review of the LiteratureTHE BREAST JOURNAL, Issue 3 2000Michael Stuntz MD Abstract: Breast cancer in men has traditionally been thought to be substantially different from that in women. As more becomes known about this relatively rare entity, the similarities between genders become more striking than the differences. Carcinoma of the male breast is an uncommon disease occurring in less than 1% of all breast cancers. Male breast carcinoma is staged similarly to female breast cancer using the American Joint Committee Clinical Staging System. As in women, axillary nodal status is the strongest predictor of outcome. Distant metastasis to bones, soft tissue, lungs, and liver have been widely reported in men with breast cancer. This case report provides a rather rare presentation of a man with breast carcinoma with bilateral orbital metastasis as an initial clinical presentation. [source] Left Ventricular Function in Male Patients with Secondary HypogonadismECHOCARDIOGRAPHY, Issue 3 2007Oben Baysan M.D. Background: In addition to the effects on ventricular repolarization, testosterone could also affect left ventricular performance. The enhancement of left ventricular contractility in testosterone-deficient rats following testosterone replacement implies to the possible testosterone effect. Objectives: The aim of the current study is to reveal the alterations of left ventricular functions, if any, in secondary hypogonadal male patients. Methods: Thirty-four males with secondary hypogonadism comprised the study group. The control group consisted of 30 healthy subjects. Echocardiographic measurements including left ventricular dimensions, ejection fraction, mitral inflow, and left ventricular outflow parameters were obtained from all subjects. Tissue Doppler parameters were also measured from left ventricular lateral wall and interventricular septum. Results: Left ventricular diameters, wall thicknesses, and performance parameters were similar in both groups. Mitral inflow parameters showed a statistically insignificant difference. Pulse-wave tissue Doppler interpretation of hypogonadal and healthy subjects were similar in terms of lateral and septal basal segment Sm, Em, and Am wave velocities. Conclusions: Regarding the findings of previous studies that showed impaired myocardial contractility and lusitropy in testosterone deficient rats and our study results, further studies are needed for better understanding of testosterone's effects on human myocardium. [source] Posttraumatic growth in cancer patients and partners,effects of role, gender and the dyad on couples' posttraumatic growth experiencePSYCHO-ONCOLOGY, Issue 1 2010Diana Zwahlen Abstract Background/Aim: Little is known about factors influencing positive effects in couples facing a cancer diagnosis. Methods: A heterogeneous sample of 224 couples from a multi-site study (four oncology units) completed questionnaire surveys including the Posttraumatic Growth Inventory (PTGI) as a measure of positive psychological effects. Results: The data demonstrated that all three investigated factors,gender, role (patient vs partner) and the dyad (belonging to any of the 224 couples),significantly contributed to variation in PTGI total scores and subscales. Variability between couples (factor dyad) appeared stronger than variability between patient and partner participants (factor role) and between male and female participants (factor gender). Role and gender analysis showed that patients demonstrated higher levels of posttraumatic growth than partners; and female participants scored higher on PTGI than males. Male patient,female partner pairs show greater association in their experience of posttraumatic growth than female patient,male partner pairs. Correlations also suggested that, regardless of the gender and role composition, patients and partners may experience parallel growth. Conclusions: Our findings indicate that positive psychological experiences may be shared by partners affected by cancer in similar ways as have been shown for negative psychological effects. Intra-couple similarities or processes may have a more important function in experiencing benefits than factors like gender or being the patient or the partner. These results underline the importance of a family approach to understanding negative and positive psychological effects of cancer. Copyright © 2009 John Wiley & Sons, Ltd. [source] Medication decisions and clinical outcomes in the Canadian National Outcomes Measurement Study in SchizophreniaACTA PSYCHIATRICA SCANDINAVICA, Issue 2006R. Williams Objective:, To evaluate over a 2-year period, patients from academic/non-academic centres, from each region of Canada, to determine whether location or other variables such as medication type, gender or income was associated with outcome as defined by non-hospitalization and persistence on original treatment. Method:, A total of 448 patients were recruited from academic and non-academic centres across all provinces of Canada and followed up for 2 years. Results:, Patients from British Columbia had significantly lower rates of hospitalization than patients from other provinces. Male patients showed greater symptomatic improvement at 2 years from initial assessment compared to females. Patients on clozapine, risperidone and olanzapine were least likely to be hospitalized. Conclusion:, There were some regional differences noted in both utilization of types of antipsychotic medications and hospitalization rates. In this sample of stable out-patients over 70% who started on monotherapy with clozapine, risperidone, olanzapine and quetiapine remained on the same medication over the 2-year study period. [source] Esophageal manometry in 28 systemic sclerosis Brazilian patients: findings and correlationsDISEASES OF THE ESOPHAGUS, Issue 8 2009D. C. Calderaro SUMMARY Systemic sclerosis (SSc) is a multisystem disease of unknown etiology. Esophageal involvement affects 50,90% of patients and is characterized by abnormal motility and hypotonic lower esophageal sphincter. Data on the association of esophageal abnormalities and age, gender, SSc subset or duration, autoantibody profile, esophageal symptoms, and medication are lacking or conflicting. The aim of this study was the evaluation of these associations in Brazilian sclerodermic patients from the Rheumatology Division, Clinics Hospital, Federal University, Minas Gerais. They underwent medical records review, clinical interview, and esophageal manometry. The normal cutoff level for lower esophageal sphincter pressure was 14 mmHg. Abnormal peristalsis occurred when less than 80% of peristaltic waves were propagated. P -values less than 0.05 were considered significant. Twenty-eight patients were included: 71% were women. The population presented medium age and disease duration of 46 years and 12 years, respectively. Cutaneous diffuse SSc occurred in 39% and its limited form in 61%. Dysphagia, pyrosis, and regurgitation occurred, respectively, in 71%, 43%, and 61% of patients. Lower esophageal sphincter pressure and number of peristaltic waves-propagated medias were, respectively, 17.2 mmHg and 2.3. SSc-related manometric abnormalities were present in 86% of patients. Manometry revealed distal esophageal body hypomotility, hypotonic lower esophageal sphincter, or both, respectively, in 82%, 39%, and 36% of patients. One patient presented the manometric pattern of esophageal achalasia. Male patients more frequently presented hypotonic inferior esophageal sphincter. Manometric findings have had no relationship with the other variables. Nifedipine use did not influence manometric findings. [source] Gonadal dysfunction in male cancer patients before cytotoxic treatmentINTERNATIONAL JOURNAL OF ANDROLOGY, Issue 1 2010Niels J. Van Casteren Summary Male patients diagnosed with cancer are often referred for semen cryopreservation before gonadotoxic treatment but often have low semen quality. The aim of this study was to evaluate which type of cancer affects gonadal function and proposes a risk factor for low pre-treatment semen quality. Between January 1983 and August 2006, 764 male cancer patients were referred for semen cryopreservation prior to chemotherapy and radiotherapy. We compared semen characteristics and reproductive hormones between different groups of cancer patients. In addition, we evaluated the role of tumour markers in patients with testicular germ-cell tumours (TGCT) on fertility. Abnormal semen parameters were found in 489 men (64%) before cancer treatment. Patients with TGCT and extragonadal germ-cell tumours had significantly lower sperm concentrations and inhibin B levels than all other patient groups. No semen could be banked in 93 patients (12.2%). Eight hundred and thirty-nine of 927 (90%) produced semen samples were adequate for cryopreservation. Inhibin B in all groups showed to be the best predictor of semen quality. Although pre-treatment raised tumour markers were associated with a decrease in inhibin B and increased follicle stimulating hormone, both predictive for low semen quality; no direct linear association could be found between raised beta-HCG, alfa-fetoprotein and semen quality. Only 1/3 of cancer patients had normal semen parameters prior to cancer treatment. Patients with TGCT and extragonadal GCT have the highest risk for impaired semen quality and gonadal dysfunction at the time of semen cryopreservation. [source] A practical guide to the evaluation and treatment of male lower urinary tract symptoms in the primary care settingINTERNATIONAL JOURNAL OF CLINICAL PRACTICE, Issue 9 2007M. T. Rosenberg Summary Aims:, Lower urinary tract symptoms (LUTS) are common in both men and women, and are among the most prevalent patient complaints heard by primary care physicians (PCPs). This article aims to provide PCPs with a logical algorithm for the assessment and initiation of treatment for LUTS in the male patient. Results:, Management of LUTS involves a focused history and physical, as well as the assessment of bother. In patients for whom treatment is warranted, a series of decisions regarding therapy should be considered. Male patients commonly suffer from storage and/or voiding symptoms. Treatment of male LUTS is commonly begun with agents that are aimed at remedying the outlet symptoms of benign prostatic hyperplasia (BPH). When this intervention is ineffective or when refractory symptoms persist, consideration should be given to treating the storage symptoms characteristic of overactive bladder (OAB). Discussion:, This article is intended to provide the PCP with a logical guide to the treatment of male LUTS. Benign prostatic hyperplasia and OAB predominate among the causes of these symptoms, and the PCP should be comfortable treating each. Recent data detailing the safety of the use of these treatments in the male patient are reviewed and incorporated into the algorithm. Conclusion:, Primary care physicians are in a unique position to successfully identify and treat male patients with LUTS. With this paper, they now have a tool to approach treatment logically and practically. [source] Influence of gender difference and gastritis on gastric ulcer formation in ratsJOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 7 2001Edgar SL Liu Abstract Background: Male patients with gastritis are found to have a high risk of developing peptic ulcer diseases. However, how gastritis or gender difference affects gastric ulcer formation is unclear. The present study aimed to investigate the relationship between ethanol-induced acute gastritis and gastric ulcer formation in rats. Methods: Acute gastritis or gastric ulcer was induced in the rat stomach by 80% ethanol or 60% acetic acid, respectively. Rats were killed either with gastritis alone or thereafter at day 1, 3 or 6 after ulcer induction. The number of proliferating and apoptotic cells, the mucosal mucus and prostaglandin E2 (PGE2) level were also determined. Results: Male rats with acute gastritis potentiated gastric ulcer formation, while gastritis in female rats prevented ulceration. Female rats with gastritis had a significantly faster ulcer-healing rate. More apoptotic cells were found in the gastritis groups, but only the female gastritis group produced more proliferating cells and had a decrease in the apoptosis-over-proliferation ratio. The mucus level was higher in female rats after ulcer induction. Mucosal PGE2 level was higher in female rats with acute gastritis. Both mucus and PGE2 were increased during ulcer healing in both genders. Conclusions: This study shows that gender difference plays a role in the pathogenesis of ulcer formation. The number of cells with apoptosis or proliferation determines, in part, the gender difference on gastric ulcer formation in rats. Gastric PGE2 not only contributes to this process, but also together with gastric mucus participates in the ulcer-healing process in the stomach. [source] Dermatofibrosarcoma protuberans: a population-based cancer registry descriptive study of 66 consecutive cases diagnosed between 1982 and 2002JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 10 2006D Monnier Abstract Background, Dermatofibrosarcoma protuberans (DFSP) is a rare malignant tumour of the skin, with an estimated incidence of 0.8 to five cases per 1 million people per year. Objective, To study epidemiological, immunohistochemical and clinical features, delay in diagnosis, type of treatment and outcome of DFSP from 1982 to 2002. Methods, Using data from the population-based cancer registry, 66 patients with pathologically proved DFSP were included (fibrosarcomatous DFSP were excluded). Each patient lived in one of the four departments of Franche-Comté (overall population of 1 million people) at the time of diagnosis. The main data sources came from public and private pathology laboratories and medical records. The rules of the International Agency for Research on Cancer were applied. Results, The estimated incidence of DFSP in Franche-Comté was about three new cases per 1 million people per year. Male patients were affected 1.2 times as often as female patients were. The trunk (45%) followed by the proximal extremities (38%) were the most frequent locations. DFSP occurred mainly in young adults between 20 and 39 years of age. Mean age at diagnosis was 43 years, and the mean delay in diagnosis was 10.08 years. Our 66 patients initially underwent a radical local excision. Among them, 27% experienced one or more local recurrences during 9.6 years of follow-up. There was one regional lymph node recurrence without visceral metastases. These recurrences were significantly related to the initial peripheral resection margins. We observed a local recurrence rate of 47% for margins less than 3 cm, vs. only 7% for margins ranging from 3 to 5 cm [P = 0.004; OR = 0.229 (95%, CI = 0.103,0.510)]. The mean time to a first local recurrence was 2.65 years. Nevertheless, there was no death due to the DFSP course at the end of the follow-up, and the final outcome was favourable. Conclusion, Our study emphasizes the importance of wide local excision with margins of at least 3 cm in order to prevent local recurrence. However, the recent development of inhibitors of signal transduction by the PDGFB pathway should soon modify the surgical strategy, which is often too mutilating. [source] Endoscopic treatment of symptomatic refluxing renal transplant ureteroneocystostomies in childrenPEDIATRIC TRANSPLANTATION, Issue 2 2010Vijaya M. Vemulakonda Vemulakonda VM, Koyle MA, Lendvay TS, Risk MC, Kirsch AJ, Cheng EY, Cisek LJ, Campbell JB. Endoscopic treatment of symptomatic refluxing renal transplant ureteroneocystostomies in children. Pediatr Transplantation 2010:14:212,215. © 2009 John Wiley & Sons A/S. Abstract:, To present a multi-center experience with the use of Dx/HA copolymer for treatment of symptomatic refluxing renal transplant UNC in children. A multi-center, retrospective chart review was performed. Eleven patients with a mean age of eight yr underwent renal transplantation with an anti-refluxing UNC. Data were collected to determine the safety and effectiveness of the procedure and to identify possible predictors of success. Endoscopic treatment was successful in one of five males and five of six females, for an overall success rate of 54.5%. The etiology of renal failure was associated with success of treatment, with 4/6 (67%) patients with upper tract pathology demonstrating resolution of the VUR, as compared with one of three (33%) patients with lower tract pathology. Male patients had a higher incidence of lower tract pathology. No complications were associated with the endoscopic procedure. Endoscopic injection of Dx/HA remains a safe option for the treatment of symptomatic refluxing transplant UNC in children. Although the success rate is lower than that seen in the treatment of primary VUR, the minimally invasive nature and safety of this technique may offer advantages over open reconstruction of the refluxing transplant ureter. [source] Thoroughness of skin examination by melanoma patients: Influence of age, sex and partnerAUSTRALASIAN JOURNAL OF DERMATOLOGY, Issue 3 2009Susan L Boone ABSTRACT The aim of this study was to determine the thoroughness of deliberate skin examination by people with a history of melanoma. Patients were randomized into one of two conditions: either to receive the brief educational and skills training intervention alone or as a couple with their spouse or cohabiting partner. Subjects recorded concerning lesions on body maps. At the 4-month visit, a total body skin examination was performed by a dermatologist blinded to the subjects' condition and to their recorded responses. The skin surface was divided according to the region's visibility during skin self-examination and sexual connotations: visible/not sexually sensitive, non-visible/not sexually sensitive and sexually sensitive. The primary point of comparison was missed lesions, defined as the difference between lesions recorded by the subjects and their partners and those recorded by the dermatologist. Among 130 participants, 56 subjects reported partner assistance while performing SSE. Participants missed more lesions in sexually sensitive areas than in the other regions. With the increasing age of the patient, the number of missed lesions in non-visible/not sexually sensitive and sexually sensitive areas decreased. Male patients assisted by female partners missed fewer lesions in all three regions than female patients assisted by male partners. In easily visible areas, male patients missed significantly fewer lesions than female patients (P = 0.01). Older couples performed more thorough partner-assisted skin examinations in non-visible and sexually sensitive areas than younger couples. Male patients who were assisted by female partners performed more thorough partner-assisted skin examinations than female patients assisted by male partners. [source] P58 Multisensitization to plants: clinical caseCONTACT DERMATITIS, Issue 3 2004António Luís Santos We observed a 65 years old male patient with pruritus, scaling erythema and liquenification areas on the face, neck, forearms and hands. For six years he had a story of episodic crisis of exsudative erythema associated with farm work. The skin biopsy showed irregular acantosis with slight hyperkeratosis and a mild multifocal lymphohistiocytic infiltrate, with many eosinophils. The patch tests with the Contact Dermatitis Portuguese Group of Study standard tray were positive for colophony, perfume mix and lactone mix. The patch tests with plant series were positive to atranorin, usnic acid, alantolactone, Parthenolide, lichen mix, Frulania dilatata, Achillea millefolium and Tanacetum extracts. Treatment was started with oral prednisone and hydroxyzine plus topical hydrocortisone and emollient cream with great improvement. The patient was advised about the avoidance of possible allergens sources. This kind of multisensitization to plants is an uncommon finding and poses diagnostic and therapeutic problems. This patient had a sustained recovery by avoiding farm work and by removal of in house plants. [source] Aromatic l -amino acid decarboxylase deficiency associated with epilepsy mimicking non-epileptic involuntary movementsDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 11 2008Susumu Ito MD Aromatic l -amino acid decarboxylase (AADC) deficiency is a rare inborn error of neurotransmitter biosynthesis that leads to a combined deficiency of catecholamines and serotonin and is characterized by global developmental delay, involuntary movements, and autonomic dysfunction. We report the case of an 11-year-old male patient with AADC deficiency who also had epileptic spasms and generalized tonic seizures with asymmetrical features, in addition to frequent involuntary non-epileptic movements. The clinical manifestation of the epileptic attacks apparently resembled that of non-epileptic attacks. It was difficult to differentiate between both attacks without the help of an ictal electroencephalographic study. The epileptic attacks were finally controlled by appropriate antiepileptic drugs. Because an association with epileptic seizures is uncommon in AADC deficiency, some cases may have been regarded as involuntary non-epileptic movements. This indicates that the differentiation of epileptic attacks from non-epileptic ones is indispensable for the adequate treatment of patients with AADC deficiency. [source] Belief in transforming another person into a wolf: could it be a variant of lycanthropy?ACTA PSYCHIATRICA SCANDINAVICA, Issue 2 2007A. G. Nejad Objective:, Lycanthropy is a rare psychiatric condition in which the patient believes in being transformed into an animal. Belief in the transformation of another person into an animal has not been reported, so far. Here, a patient with an impression of bipolar mood disorder (mixed type) and such delusion is reported. Method:, A single case is reported. Results:, A young male patient in his first psychiatric episode, developed delusional conviction of his mother's transformation into a wolf. He did not have any delusions regarding the transformation of himself into an animal, although he reported drooling for months before developing a delusional belief regarding his mother. Conclusion:, Belief in the transformation of another person into an animal may have similar roots as lycanthropy and could be considered as a variant of this syndrome. [source] A case of hydrocephalus occlusus presenting as bipolar disorderACTA PSYCHIATRICA SCANDINAVICA, Issue 2 2005T. Reisch Objective:, This case highlights the fact that manic and depressive symptoms can be related to hydrocephalus occlusus even in the absence of neurological symptoms. Method:, Single case report. Results:, A 22-year-old male patient presented with a 2-year history of manic and depressive symptoms. He was admitted to psychiatric in-patient care fulfilling sufficient criteria of bipolar disorder presenting with a hypomanic state. No neurological symptoms could be detected. Three months later, a MRI of the brain showed a hydrocephalus occlusus because of a space-occupying lesion of 5 mm in the lamina tecti obstructing the aqueduct of Silvius. The MRI also showed parahippocampal changes, which were probably related to the hydrocephalus. After the implantation of a ventriculo-peritoneal shunt, manic symptoms resolved, but the patient continued to suffer from adynamic symptoms. Follow-up MRIs over 3 years showed no progression of the lesion of unknown etiology. Conclusions:, In this case, early routine neuroimaging might have reduced long-term brain damage. The case underlines that even in the absence of neurological symptoms, brain imaging in bipolar disorder might be crucial. The feasibility of routine brain imaging in bipolar patients is discussed. [source] Hydrophobia as a rare presentation of Cotard's syndrome: a case reportACTA PSYCHIATRICA SCANDINAVICA, Issue 2 2002A. G. Nejad Objective:,To discuss a case of Cotard's syndrome in a 65-year-old male patient who refused to eat and drink. Method:,A single case is presented. Results:,The patient was especially sensitive to water and showed panic reactions when he was offered a glass of water. These symptoms began when he deluded himself to believe that his stomach shrunk. Diagnosis was major depressive disorder with psychotic feature based on DSM-IV. Conclusion:,Hydrophobia as a symptom of Cotard's syndrome was not reported before. This symptom is often known as evidence of rabies but may be seen in Cotard's syndrome. [source] Intrapancreatic schwannoma diagnosed by endoscopic ultrasound-guided fine-needle aspiration cytologyDIAGNOSTIC CYTOPATHOLOGY, Issue 2 2009Shaoying Li M.D. Abstract Schwannoma is a tumor of neuro-ectodermal origin, usually occuring in the head and neck and extremities. A retroperitoneal, and particularly intra-pancreatic presentation is very rare, and poses a clinical and diagnostic challenge. We report a case of a male patient who underwent an Endoscopic Ultrasound-guided Fine Needle Aspiration (EUS-FNA) biopsy of a hypoechoic, intra-pancreatic mass. The onsite cytological evaluation was consistent with a spindle cell neoplasm. Further evaluation, aided by immunohistochemical stains, defined the mass as a Schwannoma. The patient then underwent a pancreaticoduodenectomy and the histopathological diagnosis of the surgical specimen confirmed the cytological diagnosis. To our knowledge, this is the first report of intra-pancreatic Schwannoma diagnosed preoperatively by EUS-FNA cytology. Diagn. Cytopathol. 2009. © 2008 Wiley-Liss, Inc. [source] CASE REPORTS: Trepopnea Associated with Paroxysmal Severe Tricuspid Regurgitation Triggered at Left Lateral Decubitus PositionECHOCARDIOGRAPHY, Issue 8 2010David Wolf M.D. A 78-year-old male patient was referred cardiovascular risk evaluation before elective resection of a bronchial carcinoma. A myocardial infarction with a subsequent coronary artery bypass revascularization and a mitral prosthetic valve surgery were known. Left lateral decubitus (LLD) was permanently avoided because of significant trepopnea since several years. No signs of heart failure were found in the physical examination. A mitral valve prosthesis presented normal characteristics at examination. Left ventricular dimensions and function were normal. A severe tricuspid regurgitation could be documented during examination in the LLD, with changing characteristics in dorsal decubitus, when it could be graded as moderate. Trepopnea associated with severe paroxysmal tricuspid regurgitation was never described before in the literature. Sympathetic/parasympathetic modulation of papillary muscles of the tricuspid valve can be proposed as a probable cause of this dynamic valvular dysfunction. (Echocardiography 2010;27:E77-E79) [source] Hypertrophic Cardiomyopathy: A Case of Symptomatic Japanese Type Apical Hypertrophic CardiomyopathyECHOCARDIOGRAPHY, Issue 6 2004Murat Meriç M.D. A 61-year-old male patient was hospitalized due to the exertional angina pectoris. A diagnosis of apical hypertrophic cardiomyopathy was made by ECG (electrocardiography), echocardiographic, and coronary angiographic findings. This case was reported and related literature was reviewed because of its similarity to Japanese type apical hypertrophic cardiomyopathy (AHCMP) cases rarely seen outside Asia. [source] 5 DIAGNOSTIC PITFALLS IN THE ECHOCARDIOGRAPHIC EVALUATION OF HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY (HOCM) REFERRED FOR CATHETER INTERVENTIONAL THERAPYECHOCARDIOGRAPHY, Issue 1 2004G. Beer Introduction: Generally, the diagnosis of typical HOCM with subaortic obstruction and a dynamic pressure gradient across the left ventricular outflow tract is made by noninvasive diagnostic procedures with great certainty by employing transthoracic (TTE) and/or transoesophageal (TEE) echocardiography. However, in patients with asymmetric septal hypertrophy pitfalls in echocardiographic examination may arise from several additional diseases as described in casuistic reports. To date systematic investigations in patients referred for catheter interventional therapy of HOCM are lacking. Patients and Methods: Therefore we investigated for the first time in a systematic study 200 symptomatic patients. (180 consecutive and 20 nonconsecutive patients; functional class 3 or 4 according to NYHA) with HOCM who were referred for this new catheter interventional therapy. In all patients TTE, bicycle exercise Doppler echocardiography and multiplane TEE were performed. Results: In 4 of 180 consecutive patients. (2.2%) discrete subvalvular membranous aortic stenosis (DSAS) (3 female patients and 1 male patient; age 20 to 58 years; mean septal diameter 19 mm; Sam-like motion in all 4 patients) was made. In all cases the diagnosis could be confirmed by surgical treatment. TEE evaluation was of crucial importance with demonstration of a typical subvalvular membrane that was situated a few millimeters below the aortic valve. In all cases a typical asymmetric septal hypertrophy mimicking HOCM was seen. Additionally, in 2 patients there was a conincidence of severe symptomatic valvular aortic stenosis and HOCM and in 1 patient a tunnel type of subvalvular aortic stenosis was present. Conclusion: These results show the potential pitfalls in echocardiographic diagnosis of HOCM. Especially, the frequency of DSAS in symptomatic patients referred for HOCM is unexpectedly high (2.2%). Especially in patients in whom TTE is of insufficient quality, investigation employing multiplane TEE with careful evaluation of the small poststenotic subvalvular area in HOCM is of crucial importance. This is of special significance prior to catheter interventional therapy, because in these patients surgical treatment is mandatory. [source] A case of late-onset dependence on cocaine and crackADDICTION, Issue 4 2007Christos Kouimtsidis ABSTRACT Aims To raise awareness among the professional clinical and research community of the risk of cocaine misuse among elderly patients. Methods Case report of a male patient, aged 72 years, who presented to a community substance misuse service with cocaine use disorder (hydrochloride and base form). Results The development of the disorder was marked by high levels of cocaine (and later crack cocaine use), repeated periods of abstinence followed by relapse in the past 4 years, with severe consequences to the patient and his family. Treatment involved a close collaboration between several specialist addictions and old-age psychiatry teams in National Health Service. Implications Although dependence on cocaine among the elderly is considered very rare, clinical management can be challenging and is likely to require the involvement of several specialist and general health services. [source] Valproic Acid-Induced Hyperammonemic Encephalopathy with Triphasic WavesEPILEPSIA, Issue 7 2000Akira Kifune Summary: Purpose: To examine a patient with valproic acid (VPA)-induced hyperammonemic encephalopathy accompanied by triphasic waves. Methods: A 61-year-old male patient with epilepsy experienced disturbance of consciousness after VPA dose was increased because of poor seizure control. The electroencephalogram (EEG) taken on admission revealed triphasic waves and high-amplitude ,-activity with frontal predominance. Although serum hepatic enzymes, such as AST and ALT, were normal, serum ammonium level was high at 96 ,g/dl (normal range, 3,47 ,g/dl). Serum amino acid analysis showed multiple minor abnormalities. Administration of VPA was discontinued immediately after admission, while other anticonvulsants were continued. Results: The patient's condition was improved on the fourth day of admission. An EEG, serum ammonium level, and amino acid profile were normal on the eighth day. Based on VPA administration, serum ammonium levels, and results of amino acid analysis, this patient had VPA-induced hyperammonemic encephalopathy. Conclusions: Our case indicates that caution is required if triphasic waves appear in VPA-induced hyperammonemic encephalopathy. [source] Co-inheritance of Hb Hershey [,70(E14) Ala,Gly] and Hb La Pommeraie [,133(H11)Val,Met] in a Sicilian subjectEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 5 2010Antonino Giambona Abstract Objectives:,This report represents the first observation in Sicily of two rare , -globin gene variants, Hb Hershey [,70(E14) Ala,Gly] and Hb La Pommeraie [,133(H11)Val,Met], found in a 35-year-old male patient from Messina, in the north-east of Sicily during population screening for hemoglobinopathies. Methods: The occurrence of the Hb variants was assessed by cation exchange chromatography while complete blood counts were obtained using automatic cell counters. Red cell lysates were analyzed by electrophoresis at alkaline and acid pH. Stability of hemoglobin was checked by the isopropanol precipitation test and by the heat tests while inclusion bodies and reticulocyte count were determined by incubation of blood samples with brilliant cresyl blue. Molecular analysis was performed by DNA sequencing of ,- and , -globin genes. Results: We observed an abnormally high performance liquid chromatography elution with a slight reduction in mean corpuscular volume and mean corpuscular haemoglobin parameters and mutations at codon 70 GCC,GGC (Hb Hershey) and at codon 133 GTG,ATG (Hb La Pommeraie) in , -globin gene. Conclusion: Family analysis of three generations demonstrated the presence of these two mutations in trans. So it was possible to describe the phenotypes of these variants in a heterozygous state and in double heterozygous state. [source] Shwachman,Diamond syndrome with late-onset neutropenia and fatal acute myeloid leukaemia without maturation: a case reportEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 5 2003Jean-François Lesesve Abstract: We report on a male patient affected by Shwachman Diamond syndrome (SDS) who presented an unusual delayed neutropenia and then developed a poorly differentiated acute myeloid leukaemia (M0-AML) with trilineage myelodysplasia in adulthood. Conventional cytogenetics revealed complex karyotypic changes (monosomies 20, 21, 22, additional 15p). The patient was treated with conventional chemotherapy but never reached complete remission of leukaemia and died 18 months after diagnosis. SDS is an inherited bone marrow failure syndrome with a high propensity to leukaemic transformation. Since neutropenia may be intermittent or with delayed onset, and leukaemic transformation may not occur until adulthood, full blood count should be regularly monitored in such patients. [source] Cytogenetic, FISH, and molecular studies in a case of B-cell chronic lymphocytic leukemia with karyotypic evolutionEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 5-6 2002Christian Chena Abstract:, We report the clinical, cytogenetic, fluorescence in situ hybridization (FISH) and molecular findings in a 54-yr-old male patient diagnosed with B-cell chronic lymphocytic leukemia (B-CLL), who showed progression to a diffuse large B-cell lymphoma (Richter's syndrome). Genetic studies were performed at diagnosis and during the Richter's transformation (RT). A clonal karyotype with two dicentric chromosomes, psu dic(12,21)(q24;q10) and dic(17,18)(p11.2;p11.2), was found. Both rearrangements were confirmed by FISH. Molecular cytogenetics analysis using p53 probe showed monoallelic loss of this tumor suppressor gene in 43.8% and 77.3% of cells for the first and the second studies, respectively). In both studies, deletions of D13S319 (18% and 12% of cells) and D13S25 loci (13% and 12% of cells) at 13q14 were found. Polymerase chain reaction analysis showed the MBR/JH rearrangement of the bcl-2 gene. FISH studies using LSI bcl-2/IgH probe allowed quantifying the clonal cell population with this rearrangement (4% and 6.6% of cells at diagnosis and RT, respectively). To our knowledge, this is the first case with a psu dic(12,21) described in B-CLL. The low percentage of cells with the 13q14 deletion and bcl-2/IgH rearrangement suggests that they were secondary events that resulted from clonal evolution. Our patient had a short survival (9 months) and a clear lack of response to several therapeutic agents, confirming the association of p53 gene deletion and karyotypic evolution with disease progression. [source] Neurocutaneous syndrome with mental delay, autism, blockage in intracellular vescicular trafficking and melanosome defectsEUROPEAN JOURNAL OF NEUROLOGY, Issue 8 2006S. Buoni We evaluated a 11-year-old male patient with mental delay, autism and brownish and whitish skin spots. The former resembled those of neurofibromatosis, the latter those of tuberous sclerosis. The patient received a complete clinical work-up to exclude neurofibromatosis, tuberous sclerosis, or any other known neurocutaneous disease, with biochemistry, chromosome analysis and analysis of skin specimens. Being all the other tests not significant, two main ultrastructural defects were observed. The first was a blockage in intracellular vescicular trafficking with sparing of the mitochondria; the second an aberrant presence of melanosomes in vacuoles of several cell lines and abnormal transfer of these organelles to keratinocytes. This patient presented with a unique clinical picture distinct from neurofibromatosis or tuberous sclerosis or any other known neurocutaneous disease. The ultrastructural abnormalities suggested a defect in cell trafficking involving several cell lines and compartments. [source] PRDX4, a member of the peroxiredoxin family, is fused to AML1 (RUNX1) in an acute myeloid leukemia patient with a t(X;21)(p22;q22)GENES, CHROMOSOMES AND CANCER, Issue 4 2004Yanming Zhang The AML1 gene (also known as RUNX1) at 21q22 codes for core binding factor (CBF) ,, which forms a heterodimer with CBF , that acts as a transcriptional activating factor. CBF is a critical regulator in the generation and differentiation of definitive hematopoietic stem cells and is frequently disrupted in leukemia through chromosome translocations. We cloned a novel AML1 partner gene, PRDX4, in an X;21 translocation in a 74-year-old male patient diagnosed with acute myeloid leukemia,M2. Chromosome analysis detected a t(X;21)(p22;q22) as the sole abnormality in bone marrow samples. The involvement of AML1 was confirmed by fluorescence in situ hybridization studies. Using 3, RACE-PCR, we cloned a fusion between exon 5 of AML1 and exon 2 of PRDX4. RT-PCR confirmed the fusion and detected another fusion between exon 6 of AML1 and exon 2 of PRDX4, indicating alternative splicing of exon 6 of AML1 in the fusion transcripts. PRDX4 is one of six peroxiredoxin-family genes that are highly conserved in eukaryotes and prokaryotes and are ubiquitously expressed. Peroxiredoxin genes exhibit thioredoxin-dependent peroxidase activity and have been implicated in a number of other cellular functions such as cell proliferation and differentiation. PRDX4 plays a regulatory role in the activation of the transcription factor NF-,B and is significantly down-regulated in acute promyelocytic leukemia. This is the first example of antioxidant enzyme involvement in a chromosome translocation in leukemia. © 2004 Wiley-Liss, Inc. [source] Cast titanium overlay denture for a geriatric patient with a reduced vertical dimensionGERODONTOLOGY, Issue 4 2005Satyabodh Guttal An older patient reporting to the dental surgery for his/her dental treatment is becoming a common occurrence. Improved oral hygiene has meant that teeth are retained for a longer time, along with the potential problems of attrition, decreased vertical dimension, temporomandibular joint discomfort/strain, and poor aesthetics. The case in question is that of a 65-year-old male patient who had severe attrition in the lower arch, temporomandibular joint pain and reduced vertical dimension. The maxillary arch had previously been restored with a fixed partial prosthesis. For restoration of the lower teeth, a removable cast titanium overlay denture was fabricated incorporating an increased vertical dimension. Porcelain facings were placed to restore the aesthetics of the anterior teeth. The titanium was cast in a semi-automatic electric arc, pressure type casting machine. A titanium overlay denture with porcelain facing on the anterior teeth may provide a means of restoring a patient's concerns regarding aesthetics and function. [source] Eosinophilic angiocentric fibrosis of the sinonasal tract: Report on the clinicopathologic features of a case and review of the literature,HEAD & NECK: JOURNAL FOR THE SCIENCES & SPECIALTIES OF THE HEAD AND NECK, Issue 3 2002Emílio M. Pereira MD Abstract Background Eosinophilic angiocentric fibrosis (EAF) is a rare fibroinflammatory lesion of the sinonasal tract that occurs mainly in young to middle-aged female patients. Only two previous cases affecting male patients have been reported, and its etiopathogenesis remains unknown. The authors report on the third case of the entity in a male patient and review the 12 previously reported cases. Case Report A 52-year-old male patient was initially seen with a 15 years history of allergic rhinitis, progressive nasal obstruction, and left-sided hearing loss. All laboratory tests were unremarkable, except the nasal discharge eosinophil count that showed a conspicuous eosinophilia. The video-assisted-nasofibroscopic examination and CT scans disclosed a thickened deviated nasal septum with a subjacent infiltrative lesion. The histologic analysis of the nasal septum showed a variable mixed inflammatory cellular infiltration mainly composed of eosinophils, plasma cells, and histiocytes with a perivascular distribution; in other areas, an angiocentric fibrosing lesion with a peculiar perivascular onion-skin pattern was observed. The patient had a partial resection of the lesion with symptomatic control. Conclusions The presence of rhinitis and nasal eosinophilia in our case associated with the clinical aspects of the previously reported cases further support an allergic cause for EAF. © 2002 Wiley Periodicals, Inc. Head Neck 24: 307,311, 2002; DOI 10.1002/hed.10041 [source] | ||||||||||||||||||||||||||||||||||||||||