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Volumen 55 (2017): Heft 2 (June 2017)

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Volumen 53 (2015): Heft 1 (March 2015)

Zeitschriftendaten
Format
Zeitschrift
eISSN
2501-062X
Erstveröffentlichung
30 Mar 2015
Erscheinungsweise
4 Hefte pro Jahr
Sprachen
Englisch

Suche

Volumen 53 (2015): Heft 1 (March 2015)

Zeitschriftendaten
Format
Zeitschrift
eISSN
2501-062X
Erstveröffentlichung
30 Mar 2015
Erscheinungsweise
4 Hefte pro Jahr
Sprachen
Englisch

Suche

14 Artikel
Uneingeschränkter Zugang

Chronic Kidney Disease – Chronic Liver Disease. An Immunologic Cross-talk

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 3 - 12

Zusammenfassung

Abstract

The relationship between the kidney and other organs is notable. The bestknown is the relation with the cardiovascular system. Relationships with other organs are less studied, although their involvement sometimes dominates the clinical picture and the outcome of disease.

The paper analyzes the kidney-liver relationship, namely chronic kidney disease and chronic liver disease from an immune viewpoint. The immune system operates as a unitary whole. There is an interdependence between the immune system of the liver, considered a lymphoid organ, and the kidney, whose participation in immune processes is well-known.

The most important chronic liver diseases are viral hepatitis B and C. Infection with these viruses can lead to renal involvement, producing mainly glomerular disease.

At the same time, secondary glomerulonephritis can cause an unfavorable outcome of the primary disease.

The relationship between chronic liver disease and chronic kidney disease during chronic B and C hepatitis occurs via circulating immune complexes or complexes formed in situ. Cell-mediated immunity is also involved.

The antiviral treatment of B and C hepatitis is also aimed at secondary glomerular disease.

The participation of immune mechanisms raises the question of administering immunomodulating medication, a type of medication that influences viral replication - this is why it is associated with antiviral medication.

Other two chronic liver diseases, namely liver cirrhosis, in which the main mechanism is a toxic one, and non-alcoholic steatohepatitis can produce via immune mechanisms glomerular involvement.

In its turn, chronic kidney disease in advanced stages causes lipid metabolism disturbances with hypertriglyceridemia, which can influence fatty loading of the liver in the above-mentioned liver diseases.

One can speak about a cross-talk between the liver and the kidney, in which immune mechanisms play an important role.

Schlüsselwörter

  • chronic kidney desease
  • chronic liver desease
  • immune complexes
Uneingeschränkter Zugang

The Growing Family of Limb-Girdle Muscular Dystrophies: Old and Newly Identified Members

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 13 - 26

Zusammenfassung

Abstract

Limb-girdle muscular dystrophies (LGMD) are an extremely heterogeneous and rapidly expanding group of diseases characterized by progressive weakness of pelvic, scapular and trunk muscles with sparing of facial and distal musculature in most of the subtypes, onset in childhood or in adults of both sexes, very variable clinical severity ranging from mild to severe phenotypes, some associated with cardio-pulmonary and extraskeletal impairment and high serum creatine-kinase (CK) levels. In the past years, huge advances have been recorded in the various identification methods and new distinct entities were discovered. However, it is not yet clear why some muscle groups are affected and others spared in a specific subtype of LGMD, why similar clinical pictures are associated with different genes and mutations, while the same gene or mutation may present with very various clinical phenotypes [1]. In this review we summarize the main aspects of positive and differential diagnosis in LGMD.

Schlüsselwörter

  • Limb-girdle muscular dystrophies
  • calpain 3
  • dysferlin
  • anoctamin 5
  • γ
  • α
  • β and δ sarcoglycans.
Uneingeschränkter Zugang

Evolution of Psychosomatic Diagnosis in DSM. Historical Perspectives and New Development for Internists

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 27 - 32

Zusammenfassung

Abstract

The so-called “Psychosomatic symptoms” represent a real challenge for internists. These have often been described as non-specific, non-organic, functional, dysfunctional or idiopathic. These “diagnostic puzzles” are obviously difficult to treat. Psychosomatic symptoms have been categorized as hysteria, psychogenic, psychosomatic, conversion, somatization and somatoform disorder. It is only when modern classificatory systems such as the Diagnostic and Statistical Manual of Mental Disorders (DSM) and the International Classification of Diseases (ICD) were developed that research was stimulated and new clinical developments became much stronger than any other time. The current paper is aimed at briefly presenting the evolution of psychosomatic symptoms in DSM while pointing out the major milestones as well as the benefits and challenges along the way. We discuss the perspectives open with the advent of the 5th edition the DSM-V.

Schlüsselwörter

  • Diagnostic and Statistical Manual of Mental Disorders
  • psychosomatic symptoms
Uneingeschränkter Zugang

Acute Lymphocytic Leukemia in Adults. Pathologic Features and Prognosis

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 33 - 38

Zusammenfassung

Abstract

Acute lymphoblastic leukemia (ALL) is a malignant neoplasm of the lymphocyte precursor cells. Among adults it is a relatively rare neoplasm with a curability rate around 30% at 5 years. Currently, the diagnosis and classification of ALL is a multistep procedure that relies on the simultaneous application of multiple techniques that include: cytomorphology, immunophenotype and cytogenetic assays . Some of which have important clinical implications for both diagnosis and predicting response to specific treatment regimens, while the role of others is still to be defined. Over the years, several prognostic factors have been identified and today a risk stratification at diagnosis and during the follow -up is based on the characteristics of the leukemic cells.

Schlüsselwörter

  • acute lymphoblastic leukaemia
  • prognostic factors
  • adults
Uneingeschränkter Zugang

Renin Genetic Polymorphism in Heart Failure Patients

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 39 - 45

Zusammenfassung

Abstract

Background. Genetic polymorphism of renin-angiotensin-aldosterone system affects the pathogenesis of hypertension (HTN), ischemic heart disease (IHD) and heart failure (HF). The purpose of our study is to analyze A/G renin genetic polymorphism in heart failure patients.

Methods. We investigated renin polymorphism in 83 subjects hospitalized in the Cardiology Department of the Rehabilitation Hospital Cluj-Napoca, using the PCR amplification method. 43 patients were diagnosed with heart failure [NYHA III-IV class], and 40 subjects without cardiovascular disease (control group). The NT-proBNP and the presence of cardiovascular risk factors were assessed.

Results. Heart failure etiology was IHD in 60.46 % of patients. The average value of NT-pro BNP was 2991.24 ± 2034.6 pg/ml. As it was expected, HF patients presented low lipid levels: total cholesterol = 162.36 ± 38.28mg/dl, LDL-Cholesterol = 104.88 ± 27.60mg/dl, triglycerides= 109.12 ± 55.84mg/dl, HDL-Co= 35.68 ± 9.55mg/dl. A/G renin genetic polymorphism [with pathogenic potential] in heart failure patients was of 60.46% (homozygote 4.65% and heterozygote 55.81%). Conversely, pathogenic mutations were found only in 38.46% of hypertensive patients, but also in 55.88% and 22.22% patients with obesity/overweight and diabetes. The heterozygote form was found in only 37.5% of control subjects.

Conclusion. This study showed no involvement of A/G renin polymorphisms in the pathogenesis of HF.

Schlüsselwörter

  • renin genetic polymorphism
  • heart failure

Cuvinte cheie

  • polimorfism genetic
  • renina
  • insuficienţă cardiacă
Uneingeschränkter Zugang

IL-17, IL-6 and IFN-γ in systemic sclerosis patients

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 46 - 51

Zusammenfassung

Abstract

Background. Systemic sclerosis (Ssc) is an autoimmune disease characterized by cutaneous and visceral fibrosis and its pathogenesis is incompletely understood. T helper cells are key regulators of the immune response and they seem to be involved in Ssc clinical manifestations. The aim of the study is to determine key cytokines secreted by Th1 (IFN-γ), Th2 (IL-6) and Th17 (IL-17) in Ssc patients and correlate them with specific manifestations of Ssc patients.

Material and methods. 35 consecutive Ssc patients and 20 age and sex matched controls were recruited. Serum IL-17, IFN-γ and IL-6 were determined using ELISA method.

Results. Serum IL-17 and IL-6 levels were not significantly different in Ssc patients and controls. Serum IFN-γ levels were higher in Ssc patients when compared to controls. Higher serum IFN-γ levels associated with pulmonary hypertension. After adjusting for gender and age, IL-17 levels remained independently associated with some clinical manifestations of Ssc patients (telangiectasia and high activity score of Ssc).

Conclusion. Th17 and Th1 cell responses are active in Ssc patients as their cytokines associated with higher disease activity scores and pulmonary manifestations. Th17 and Th1 specific activity and homing within Ssc patients still needs to be defined and determined in order to target them as potential future therapeutic targets in Ssc patients.

Schlüsselwörter

  • IL-17
  • systemic sclerosis
  • IFN-γ
  • T helper 17
  • T helper 1
Uneingeschränkter Zugang

Factors Influencing Complication Rates at Colonic Polypectomy: A Prospective Study from a Tertiary-Referral Center

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 52 - 55

Zusammenfassung

Abstract

Background and aims. Colon polypectomy decreases the incidence of colorectal cancer and related mortality. Several factors such as the size, location and type of polyp as well as endoscopist experience have been shown to correlate with the risk of ensuing procedure-related complications. This study aims to evaluate the impact of polyp and endoscopist-related factors on the rate of postpolypectomy complication in a real-life setting.

Methods. During the study period all polypectomies performed in our unit were reported on a standard form that included data on polyp type (flat, sessile, pedunculated), size, location in the colon, resection method, endoscopist volume and procedure-related complications arising up to 30 days. The main outcome was the complication rate of polypectomies. The factors that associated with a higher risk of complications were assessed on univariate and multivariate analysis.

Results. 244 polyp resections from 95 patients were included in the analysis. 199 polyps were resected by low-volume endoscopists (44.7%) and 135 polypectomies were performed by highvolume endoscopists (55.3%). On multivariate analysis only polyp size correlated with the risk of procedure-related complications.

Conclusion. Polyp size is the most important risk factor for procedure-related complications. Both high and low-volume endoscopists have a low overall rate of serious complications.

Uneingeschränkter Zugang

Noninvasive Markers of Improvement of Liver Steatosis Achieved by Weight Reduction in Patients with Nonalcoholic Fatty Liver Disease

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 56 - 64

Zusammenfassung

Abstract

Nonalcoholic fatty liver disease (NAFLD) is strongly associated with insulin resistance and metabolic syndrome, which are linked to obesity. The aim of the study was to assess if weight reduction through 12 months of lifestyle intervention and exercise would lead to improvement of steatosis.

Methods. In a prospective observational study 86 overweight subjects (51 men, 35 women) with steatosis were recruited, after excluding other etiologies. Patients were assigned a caloric goal and a daily fat goal. Physical activity focused on moderate-intensity activities. Blood samples (biochemistry, HOMA-IR, cytokine levels, steatotest) were collected at entry and months 6 and 12. All subjects underwent abdominal CT scan before commencement and after 12 months to assess visceral and subcutaneous adipose tissue (VAT/SAT) area.

Results. After 12 months baseline descriptive characteristics (weight, BMI, waist circumference) decreased significantly. Biochemical parameters that decreased significantly were: GGT (40.0 ± 18.0 vs 31.1 ± 13; p = 0.01), ALT (58.5 ± 23.5 vs 32,7 ± 14.8; p = 0.001), cholesterol (236.4 ± 54.8 vs 204.8 ± 91; p = 0.05), LDL (160.1 ± 47.4 vs 125.3 ± 40; p = 0.05) and HOMA-R (4.86 ± 0.63 vs 3 ± 0.41; p = 0.018). Steatotest improved significantly (0.68 ± 0.16 vs 0.38 ± 0.14; p = 0.02). Modification of adipocytokines was significant for leptin (p = 0.018) and adiponectin (p = 0.003). Factors associated with regression of steatosis were weight, BMI, ALT, waist circumference, GGT, HOMA, leptin, VAT and steatotest. Multivariate logistic regression showed the following factors related to improved steatosis: BMI < 25 kg/m2, ALT < 42 U/L, leptin < 10.5 ng/ml and adiponectin > 8.4 μg/ml.

Conclusions. Overweight persons who achieve significant reductions in body weight through 12 months of physical activity and low caloric diet can decrease liver fat, VAT and SAT. Even in those with minimal weight loss ALT levels, steatosis, adipokines and cardiovascular risk factors improved.

Schlüsselwörter

  • non-alcoholic fatty liver disease
  • weight reduction
  • steatosis
Uneingeschränkter Zugang

Four years Follow-up of Patients with Irritable Bowel Syndrome

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 65 - 74

Zusammenfassung

Abstract

There is little data on the long term evolution of patients with irritable bowel syndrome (IBS) and of associated conditions. We therefore studied the evolution of IBS patients in a single tertiary center during a long interval of time.

Methods. We carried out a retrospective study based on the survey of patients records. We analyzed the records of symptoms, therapy, associated diseases, as consigned at follow-up visits for an interval of 4 years in average (2008-2011).

Results. A cohort of 114 patients with IBS diagnosed based on Rome III criteria were included (29 men and 85 women), age 19-85 years (mean age: 43.45 years). Urban patients were predominant. The main three symptoms were: abdominal pain, bowel disorders (constipation, diarrhea) and bloating. IBS - constipation (IBS - C) is associated with a favorable course of symptoms (increasing the number of stools, decrease intensity of abdominal pain and bloating) after treatment and IBS - diarrhea (IBS - D) is associated with variable symptoms after treatment (p = 0.031). Using trimebutin or mebeverin in association with other drugs for one month correlates with a favorable evolution of symptoms after treatment and monotherapy is associated with fluctuating symptoms ( p< 0.001). Favorable symptoms are associated with the use of probiotics in combination, but not in monotherapy (p< 0.001). Favorable evolution of symptoms is also associated with the use of anxiolytics in combination. Persistence of symptoms after treatment was correlated with the presence or absence of depression. The absence of depression was correlated with a favorable evolution of symptoms (p = 0.005). IBS-C is associated at limit (marginal significance) with hemorrhoidal disease (p = 0.56). 33 patients (29%) - received monotherapy (trimebutin or mebeverin or probiotics); 81 patients (71%) - received combined therapy: (trimebutin or mebeverin or probiotics) + anxiolytics or proton pump inhibitors (PPI) or nonsteroidal anti-inflammatory (NSAI) or spasmolitics. The most common associated diseases observed in patients with IBS were: depression (27.19%), dyslipidemia (25.43%), hemorrhoidal disease (22.80%) and fibromyalgia (21%).

Conclusions. The highest response rate was obtained with trimebutin or mebeverin + anxiolitics + probiotics. The most frequent disease associated with IBS was depression. Other diseases with a high incidence: dyslipidemia, hemorrhoidal disease and fibromyalgia. Further studies are needed to analyze the link between IBS and some associated diseases.

Schlüsselwörter

  • IBS
  • symptoms
  • treatment
  • associated diseases
Uneingeschränkter Zugang

Multiple Intestinal Lymphoma

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 75 - 80

Zusammenfassung

Abstract

Gastrointestinal tract is the most common location for extralymphonodular lymphomas. The small intestine is affected only in 9% of the cases. Intestinal lymphoma may have single or multiple location. This paper describes a case of multiple location in the small intestine of a non-Hodgkin B-cell in a 53 years old patient, who was initially diagnosed with bilateral pneumonia with pleurisy with E. coli, steeper on the right side, but the persistence of symptoms as fever, malaise, despite appropriate treatment, required further investigation. The CT exam observed fluid collection in the hypogastrium around a digestive loop. The patient underwent surgery, the intraoperative foundings being: a large mesenteric tumor ~ 5 cm in diameter, a terminal ileal mesenteric tumor, a mesenteric tumor ~ 6 cm in diameter, omentum with nodular formations, a tumor ~ 3.3/2.5.1 cm in the abdominal wall, pseudotumoral appendix. Segmental enterectomy with entero-enterostomy, excision of mesenteric tumors, appendectomy and omentectomy were performed. Pathological diagnosis was non-Hodgkin marginal zone B-cell MALT type lymphoma of the small intestine with extension to the appendix, meso, omentum and abdominal wall. Postoperatively, the patient received chemotherapy for remission.

Schlüsselwörter

  • lymphoma
  • small intestine
  • mesenteric tumors
  • enterectomy
Uneingeschränkter Zugang

Multiple Histological Subtypes of Dermatofibrosarcoma Protuberans Occurring in the Same Tumor

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 81 - 90

Zusammenfassung

Abstract

Dermatofibrosarcoma protuberans (DFSP) represents a low-grade cutaneous sarcoma which may have different histological aspects, presenting as a fibrosarcomatous, pigmented, juvenile, myxoid, atrophic, sclerosing or myoid lesion. Some of these subtypes may occur isolated or in association with one of the others creating hybrid lesions. We present the case of a 66 years old woman having a 4 cm diameter tumor located on the abdominal wall. Histopathological examination of the resection specimen revealed areas of typical DFSP associated with fibrosarcomatous transformation, myoid and myxoid areas. Also, focally, pleomorphic tumor cells and foreign-body type multinucleated giant cells were observed. Immunostains revealed CD34 positivity in typical DFSP and myxoid areas with negative staining of some of the tumor cells in fibrosarcomatous areas and negative staining of myoid areas. Smooth muscle actin was positive in myoid areas. The nature of myoid fascicles in DFSP is a matter of debate, being uncertain whether these represent a type of tumor differentiation or a reactive myoid proliferation. In this particular case, finding the association of myoid cells with blood vessel walls sustains their reactive nature. We present the morphological aspects of the different areas of the tumor with emphasis on differential diagnostic problems and clinical implications.

Schlüsselwörter

  • Dermatofibrosarcoma protuberans
  • fibrosarcomatous
  • juvenile
  • giant-cell fibroblastoma
  • myxoid
  • myoid
Uneingeschränkter Zugang

Obstructive Sleep Apnea Syndrome in a Railroad Controller Worker

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 91 - 96

Zusammenfassung

Abstract

Sleep Apnea Syndrome (SAS) constitutes a healthcare issue of major importance at international level with a prevalence of 5% in the active population. Consequentially to the induced co-morbidities, the mortality reaches as high as 39% at eight years time lapse from the initial diagnostic. Seldom undiagnosed, the severity spectrum of SAS, in the absence of therapy, only continues to amplify.

Here below, we are presenting the case of a 49 years old patient, railroad controller worker, non-smoker and occasionally alcohol user, who was hospitalized in our Clinic for Occupational Medicine. During last year, the patient was accusing excessive daytime somnolence, breath arrests during sleep, intense snoring, morning headaches, morning oral dryness, pin point chest pain, nocturia (4-5 nocturnal urination), concentration difficulties and an overall reduced work capacity. The presumptive diagnostic of Obstructive Sleep Apnea is being considered based on the correlation between the clinical presentation and the Epworth, Stanford and Berlin questionnaire results. The key diagnostic element was the polygraph recording over an 8 hours sleep period. Positive Diagnosis: Obstructive Sleep Apnea severe form. Management and recommendations: (1) Behavioral therapy (weight loss) and (2) CPAP (Continuous Positive Airway Pressure) therapy which was instituted immediately after the positive diagnosis was made. As a consequence, the respiratory symptoms, the frequent episodes of daytime snoozing and the concentration difficulties at work place diminished considerably.

Schlüsselwörter

  • sleep apnea syndrome
  • railroad controller
  • polygraph
  • work accident
Uneingeschränkter Zugang

Problems of Differential Diagnosis in Melanoma Arising from Blue Naevus

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 97 - 103

Zusammenfassung

Abstract

Melanoma arising from blue naevus is an exceedingly rare variant of melanoma. Most of the cases are located in head and neck area, with scalp the most affected site. This type of melanoma develops on blue naevus or resembles blue naevus, most frequently cellular blue naevus. We present the case of a 52 years old female diagnosed with a pigmented melanoma of the scalp, with maximum tumoral thickness of 6.8 mm and invasion of the hypodermis, highly resembling cellular blue naevus. All criteria of malignancy were present: prominent nuclear pleomorphism, infiltrative pattern, tumoral necrosis, high mitotic rate (11 mitoses/mm2) with atypical mitosis and high Ki67 index. No lymph node or distant metastases were identified at presentation.

Because of the rarity of cases, histopathological diagnosis can be difficult, differential diagnosis with blue naevi, atypical blue naevi or metastatic melanoma being the most challenging problems. Prognosis is given by tumoral thickness, frequently being more than 4 mm.

Schlüsselwörter

  • melanoma
  • blue naevus
Uneingeschränkter Zugang

Irritable Bowel Syndrome and the Small Intestinal Microflora. What We Do Know?

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 105 - 109

Zusammenfassung

Abstract

Irritable bowel syndrome, one of the most common functional gastro intestinal disorders all over the world is considered to have a multi factorial pathogenesis. Recently more and more studies are focusing on the changes that take place in the micro biota of patients with irritable bowel syndrome, underlining the bacterial role in this pathogenesis. As a consequence, bacterial overgrowth, along with intestinal dysmotility, altered brain-gut axis and genetic factors are considered part of this pathophysiology. This report intends to summarize the actual knowledge on irritable bowel syndrome and small intestinal bacterial overgrowth syndrome, from details on the epidemiology, clinical manifestation, pathophysiology, diagnosis, treatment to details on the relationship between these two syndromes.

Schlüsselwörter

  • Irritable bowel syndrome
  • Small Intestinal bacterial overgrowth
  • Hydrogen breath tests
  • Rifaximin
14 Artikel
Uneingeschränkter Zugang

Chronic Kidney Disease – Chronic Liver Disease. An Immunologic Cross-talk

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 3 - 12

Zusammenfassung

Abstract

The relationship between the kidney and other organs is notable. The bestknown is the relation with the cardiovascular system. Relationships with other organs are less studied, although their involvement sometimes dominates the clinical picture and the outcome of disease.

The paper analyzes the kidney-liver relationship, namely chronic kidney disease and chronic liver disease from an immune viewpoint. The immune system operates as a unitary whole. There is an interdependence between the immune system of the liver, considered a lymphoid organ, and the kidney, whose participation in immune processes is well-known.

The most important chronic liver diseases are viral hepatitis B and C. Infection with these viruses can lead to renal involvement, producing mainly glomerular disease.

At the same time, secondary glomerulonephritis can cause an unfavorable outcome of the primary disease.

The relationship between chronic liver disease and chronic kidney disease during chronic B and C hepatitis occurs via circulating immune complexes or complexes formed in situ. Cell-mediated immunity is also involved.

The antiviral treatment of B and C hepatitis is also aimed at secondary glomerular disease.

The participation of immune mechanisms raises the question of administering immunomodulating medication, a type of medication that influences viral replication - this is why it is associated with antiviral medication.

Other two chronic liver diseases, namely liver cirrhosis, in which the main mechanism is a toxic one, and non-alcoholic steatohepatitis can produce via immune mechanisms glomerular involvement.

In its turn, chronic kidney disease in advanced stages causes lipid metabolism disturbances with hypertriglyceridemia, which can influence fatty loading of the liver in the above-mentioned liver diseases.

One can speak about a cross-talk between the liver and the kidney, in which immune mechanisms play an important role.

Schlüsselwörter

  • chronic kidney desease
  • chronic liver desease
  • immune complexes
Uneingeschränkter Zugang

The Growing Family of Limb-Girdle Muscular Dystrophies: Old and Newly Identified Members

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 13 - 26

Zusammenfassung

Abstract

Limb-girdle muscular dystrophies (LGMD) are an extremely heterogeneous and rapidly expanding group of diseases characterized by progressive weakness of pelvic, scapular and trunk muscles with sparing of facial and distal musculature in most of the subtypes, onset in childhood or in adults of both sexes, very variable clinical severity ranging from mild to severe phenotypes, some associated with cardio-pulmonary and extraskeletal impairment and high serum creatine-kinase (CK) levels. In the past years, huge advances have been recorded in the various identification methods and new distinct entities were discovered. However, it is not yet clear why some muscle groups are affected and others spared in a specific subtype of LGMD, why similar clinical pictures are associated with different genes and mutations, while the same gene or mutation may present with very various clinical phenotypes [1]. In this review we summarize the main aspects of positive and differential diagnosis in LGMD.

Schlüsselwörter

  • Limb-girdle muscular dystrophies
  • calpain 3
  • dysferlin
  • anoctamin 5
  • γ
  • α
  • β and δ sarcoglycans.
Uneingeschränkter Zugang

Evolution of Psychosomatic Diagnosis in DSM. Historical Perspectives and New Development for Internists

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 27 - 32

Zusammenfassung

Abstract

The so-called “Psychosomatic symptoms” represent a real challenge for internists. These have often been described as non-specific, non-organic, functional, dysfunctional or idiopathic. These “diagnostic puzzles” are obviously difficult to treat. Psychosomatic symptoms have been categorized as hysteria, psychogenic, psychosomatic, conversion, somatization and somatoform disorder. It is only when modern classificatory systems such as the Diagnostic and Statistical Manual of Mental Disorders (DSM) and the International Classification of Diseases (ICD) were developed that research was stimulated and new clinical developments became much stronger than any other time. The current paper is aimed at briefly presenting the evolution of psychosomatic symptoms in DSM while pointing out the major milestones as well as the benefits and challenges along the way. We discuss the perspectives open with the advent of the 5th edition the DSM-V.

Schlüsselwörter

  • Diagnostic and Statistical Manual of Mental Disorders
  • psychosomatic symptoms
Uneingeschränkter Zugang

Acute Lymphocytic Leukemia in Adults. Pathologic Features and Prognosis

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 33 - 38

Zusammenfassung

Abstract

Acute lymphoblastic leukemia (ALL) is a malignant neoplasm of the lymphocyte precursor cells. Among adults it is a relatively rare neoplasm with a curability rate around 30% at 5 years. Currently, the diagnosis and classification of ALL is a multistep procedure that relies on the simultaneous application of multiple techniques that include: cytomorphology, immunophenotype and cytogenetic assays . Some of which have important clinical implications for both diagnosis and predicting response to specific treatment regimens, while the role of others is still to be defined. Over the years, several prognostic factors have been identified and today a risk stratification at diagnosis and during the follow -up is based on the characteristics of the leukemic cells.

Schlüsselwörter

  • acute lymphoblastic leukaemia
  • prognostic factors
  • adults
Uneingeschränkter Zugang

Renin Genetic Polymorphism in Heart Failure Patients

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 39 - 45

Zusammenfassung

Abstract

Background. Genetic polymorphism of renin-angiotensin-aldosterone system affects the pathogenesis of hypertension (HTN), ischemic heart disease (IHD) and heart failure (HF). The purpose of our study is to analyze A/G renin genetic polymorphism in heart failure patients.

Methods. We investigated renin polymorphism in 83 subjects hospitalized in the Cardiology Department of the Rehabilitation Hospital Cluj-Napoca, using the PCR amplification method. 43 patients were diagnosed with heart failure [NYHA III-IV class], and 40 subjects without cardiovascular disease (control group). The NT-proBNP and the presence of cardiovascular risk factors were assessed.

Results. Heart failure etiology was IHD in 60.46 % of patients. The average value of NT-pro BNP was 2991.24 ± 2034.6 pg/ml. As it was expected, HF patients presented low lipid levels: total cholesterol = 162.36 ± 38.28mg/dl, LDL-Cholesterol = 104.88 ± 27.60mg/dl, triglycerides= 109.12 ± 55.84mg/dl, HDL-Co= 35.68 ± 9.55mg/dl. A/G renin genetic polymorphism [with pathogenic potential] in heart failure patients was of 60.46% (homozygote 4.65% and heterozygote 55.81%). Conversely, pathogenic mutations were found only in 38.46% of hypertensive patients, but also in 55.88% and 22.22% patients with obesity/overweight and diabetes. The heterozygote form was found in only 37.5% of control subjects.

Conclusion. This study showed no involvement of A/G renin polymorphisms in the pathogenesis of HF.

Schlüsselwörter

  • renin genetic polymorphism
  • heart failure

Cuvinte cheie

  • polimorfism genetic
  • renina
  • insuficienţă cardiacă
Uneingeschränkter Zugang

IL-17, IL-6 and IFN-γ in systemic sclerosis patients

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 46 - 51

Zusammenfassung

Abstract

Background. Systemic sclerosis (Ssc) is an autoimmune disease characterized by cutaneous and visceral fibrosis and its pathogenesis is incompletely understood. T helper cells are key regulators of the immune response and they seem to be involved in Ssc clinical manifestations. The aim of the study is to determine key cytokines secreted by Th1 (IFN-γ), Th2 (IL-6) and Th17 (IL-17) in Ssc patients and correlate them with specific manifestations of Ssc patients.

Material and methods. 35 consecutive Ssc patients and 20 age and sex matched controls were recruited. Serum IL-17, IFN-γ and IL-6 were determined using ELISA method.

Results. Serum IL-17 and IL-6 levels were not significantly different in Ssc patients and controls. Serum IFN-γ levels were higher in Ssc patients when compared to controls. Higher serum IFN-γ levels associated with pulmonary hypertension. After adjusting for gender and age, IL-17 levels remained independently associated with some clinical manifestations of Ssc patients (telangiectasia and high activity score of Ssc).

Conclusion. Th17 and Th1 cell responses are active in Ssc patients as their cytokines associated with higher disease activity scores and pulmonary manifestations. Th17 and Th1 specific activity and homing within Ssc patients still needs to be defined and determined in order to target them as potential future therapeutic targets in Ssc patients.

Schlüsselwörter

  • IL-17
  • systemic sclerosis
  • IFN-γ
  • T helper 17
  • T helper 1
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Factors Influencing Complication Rates at Colonic Polypectomy: A Prospective Study from a Tertiary-Referral Center

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 52 - 55

Zusammenfassung

Abstract

Background and aims. Colon polypectomy decreases the incidence of colorectal cancer and related mortality. Several factors such as the size, location and type of polyp as well as endoscopist experience have been shown to correlate with the risk of ensuing procedure-related complications. This study aims to evaluate the impact of polyp and endoscopist-related factors on the rate of postpolypectomy complication in a real-life setting.

Methods. During the study period all polypectomies performed in our unit were reported on a standard form that included data on polyp type (flat, sessile, pedunculated), size, location in the colon, resection method, endoscopist volume and procedure-related complications arising up to 30 days. The main outcome was the complication rate of polypectomies. The factors that associated with a higher risk of complications were assessed on univariate and multivariate analysis.

Results. 244 polyp resections from 95 patients were included in the analysis. 199 polyps were resected by low-volume endoscopists (44.7%) and 135 polypectomies were performed by highvolume endoscopists (55.3%). On multivariate analysis only polyp size correlated with the risk of procedure-related complications.

Conclusion. Polyp size is the most important risk factor for procedure-related complications. Both high and low-volume endoscopists have a low overall rate of serious complications.

Uneingeschränkter Zugang

Noninvasive Markers of Improvement of Liver Steatosis Achieved by Weight Reduction in Patients with Nonalcoholic Fatty Liver Disease

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 56 - 64

Zusammenfassung

Abstract

Nonalcoholic fatty liver disease (NAFLD) is strongly associated with insulin resistance and metabolic syndrome, which are linked to obesity. The aim of the study was to assess if weight reduction through 12 months of lifestyle intervention and exercise would lead to improvement of steatosis.

Methods. In a prospective observational study 86 overweight subjects (51 men, 35 women) with steatosis were recruited, after excluding other etiologies. Patients were assigned a caloric goal and a daily fat goal. Physical activity focused on moderate-intensity activities. Blood samples (biochemistry, HOMA-IR, cytokine levels, steatotest) were collected at entry and months 6 and 12. All subjects underwent abdominal CT scan before commencement and after 12 months to assess visceral and subcutaneous adipose tissue (VAT/SAT) area.

Results. After 12 months baseline descriptive characteristics (weight, BMI, waist circumference) decreased significantly. Biochemical parameters that decreased significantly were: GGT (40.0 ± 18.0 vs 31.1 ± 13; p = 0.01), ALT (58.5 ± 23.5 vs 32,7 ± 14.8; p = 0.001), cholesterol (236.4 ± 54.8 vs 204.8 ± 91; p = 0.05), LDL (160.1 ± 47.4 vs 125.3 ± 40; p = 0.05) and HOMA-R (4.86 ± 0.63 vs 3 ± 0.41; p = 0.018). Steatotest improved significantly (0.68 ± 0.16 vs 0.38 ± 0.14; p = 0.02). Modification of adipocytokines was significant for leptin (p = 0.018) and adiponectin (p = 0.003). Factors associated with regression of steatosis were weight, BMI, ALT, waist circumference, GGT, HOMA, leptin, VAT and steatotest. Multivariate logistic regression showed the following factors related to improved steatosis: BMI < 25 kg/m2, ALT < 42 U/L, leptin < 10.5 ng/ml and adiponectin > 8.4 μg/ml.

Conclusions. Overweight persons who achieve significant reductions in body weight through 12 months of physical activity and low caloric diet can decrease liver fat, VAT and SAT. Even in those with minimal weight loss ALT levels, steatosis, adipokines and cardiovascular risk factors improved.

Schlüsselwörter

  • non-alcoholic fatty liver disease
  • weight reduction
  • steatosis
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Four years Follow-up of Patients with Irritable Bowel Syndrome

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 65 - 74

Zusammenfassung

Abstract

There is little data on the long term evolution of patients with irritable bowel syndrome (IBS) and of associated conditions. We therefore studied the evolution of IBS patients in a single tertiary center during a long interval of time.

Methods. We carried out a retrospective study based on the survey of patients records. We analyzed the records of symptoms, therapy, associated diseases, as consigned at follow-up visits for an interval of 4 years in average (2008-2011).

Results. A cohort of 114 patients with IBS diagnosed based on Rome III criteria were included (29 men and 85 women), age 19-85 years (mean age: 43.45 years). Urban patients were predominant. The main three symptoms were: abdominal pain, bowel disorders (constipation, diarrhea) and bloating. IBS - constipation (IBS - C) is associated with a favorable course of symptoms (increasing the number of stools, decrease intensity of abdominal pain and bloating) after treatment and IBS - diarrhea (IBS - D) is associated with variable symptoms after treatment (p = 0.031). Using trimebutin or mebeverin in association with other drugs for one month correlates with a favorable evolution of symptoms after treatment and monotherapy is associated with fluctuating symptoms ( p< 0.001). Favorable symptoms are associated with the use of probiotics in combination, but not in monotherapy (p< 0.001). Favorable evolution of symptoms is also associated with the use of anxiolytics in combination. Persistence of symptoms after treatment was correlated with the presence or absence of depression. The absence of depression was correlated with a favorable evolution of symptoms (p = 0.005). IBS-C is associated at limit (marginal significance) with hemorrhoidal disease (p = 0.56). 33 patients (29%) - received monotherapy (trimebutin or mebeverin or probiotics); 81 patients (71%) - received combined therapy: (trimebutin or mebeverin or probiotics) + anxiolytics or proton pump inhibitors (PPI) or nonsteroidal anti-inflammatory (NSAI) or spasmolitics. The most common associated diseases observed in patients with IBS were: depression (27.19%), dyslipidemia (25.43%), hemorrhoidal disease (22.80%) and fibromyalgia (21%).

Conclusions. The highest response rate was obtained with trimebutin or mebeverin + anxiolitics + probiotics. The most frequent disease associated with IBS was depression. Other diseases with a high incidence: dyslipidemia, hemorrhoidal disease and fibromyalgia. Further studies are needed to analyze the link between IBS and some associated diseases.

Schlüsselwörter

  • IBS
  • symptoms
  • treatment
  • associated diseases
Uneingeschränkter Zugang

Multiple Intestinal Lymphoma

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 75 - 80

Zusammenfassung

Abstract

Gastrointestinal tract is the most common location for extralymphonodular lymphomas. The small intestine is affected only in 9% of the cases. Intestinal lymphoma may have single or multiple location. This paper describes a case of multiple location in the small intestine of a non-Hodgkin B-cell in a 53 years old patient, who was initially diagnosed with bilateral pneumonia with pleurisy with E. coli, steeper on the right side, but the persistence of symptoms as fever, malaise, despite appropriate treatment, required further investigation. The CT exam observed fluid collection in the hypogastrium around a digestive loop. The patient underwent surgery, the intraoperative foundings being: a large mesenteric tumor ~ 5 cm in diameter, a terminal ileal mesenteric tumor, a mesenteric tumor ~ 6 cm in diameter, omentum with nodular formations, a tumor ~ 3.3/2.5.1 cm in the abdominal wall, pseudotumoral appendix. Segmental enterectomy with entero-enterostomy, excision of mesenteric tumors, appendectomy and omentectomy were performed. Pathological diagnosis was non-Hodgkin marginal zone B-cell MALT type lymphoma of the small intestine with extension to the appendix, meso, omentum and abdominal wall. Postoperatively, the patient received chemotherapy for remission.

Schlüsselwörter

  • lymphoma
  • small intestine
  • mesenteric tumors
  • enterectomy
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Multiple Histological Subtypes of Dermatofibrosarcoma Protuberans Occurring in the Same Tumor

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 81 - 90

Zusammenfassung

Abstract

Dermatofibrosarcoma protuberans (DFSP) represents a low-grade cutaneous sarcoma which may have different histological aspects, presenting as a fibrosarcomatous, pigmented, juvenile, myxoid, atrophic, sclerosing or myoid lesion. Some of these subtypes may occur isolated or in association with one of the others creating hybrid lesions. We present the case of a 66 years old woman having a 4 cm diameter tumor located on the abdominal wall. Histopathological examination of the resection specimen revealed areas of typical DFSP associated with fibrosarcomatous transformation, myoid and myxoid areas. Also, focally, pleomorphic tumor cells and foreign-body type multinucleated giant cells were observed. Immunostains revealed CD34 positivity in typical DFSP and myxoid areas with negative staining of some of the tumor cells in fibrosarcomatous areas and negative staining of myoid areas. Smooth muscle actin was positive in myoid areas. The nature of myoid fascicles in DFSP is a matter of debate, being uncertain whether these represent a type of tumor differentiation or a reactive myoid proliferation. In this particular case, finding the association of myoid cells with blood vessel walls sustains their reactive nature. We present the morphological aspects of the different areas of the tumor with emphasis on differential diagnostic problems and clinical implications.

Schlüsselwörter

  • Dermatofibrosarcoma protuberans
  • fibrosarcomatous
  • juvenile
  • giant-cell fibroblastoma
  • myxoid
  • myoid
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Obstructive Sleep Apnea Syndrome in a Railroad Controller Worker

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 91 - 96

Zusammenfassung

Abstract

Sleep Apnea Syndrome (SAS) constitutes a healthcare issue of major importance at international level with a prevalence of 5% in the active population. Consequentially to the induced co-morbidities, the mortality reaches as high as 39% at eight years time lapse from the initial diagnostic. Seldom undiagnosed, the severity spectrum of SAS, in the absence of therapy, only continues to amplify.

Here below, we are presenting the case of a 49 years old patient, railroad controller worker, non-smoker and occasionally alcohol user, who was hospitalized in our Clinic for Occupational Medicine. During last year, the patient was accusing excessive daytime somnolence, breath arrests during sleep, intense snoring, morning headaches, morning oral dryness, pin point chest pain, nocturia (4-5 nocturnal urination), concentration difficulties and an overall reduced work capacity. The presumptive diagnostic of Obstructive Sleep Apnea is being considered based on the correlation between the clinical presentation and the Epworth, Stanford and Berlin questionnaire results. The key diagnostic element was the polygraph recording over an 8 hours sleep period. Positive Diagnosis: Obstructive Sleep Apnea severe form. Management and recommendations: (1) Behavioral therapy (weight loss) and (2) CPAP (Continuous Positive Airway Pressure) therapy which was instituted immediately after the positive diagnosis was made. As a consequence, the respiratory symptoms, the frequent episodes of daytime snoozing and the concentration difficulties at work place diminished considerably.

Schlüsselwörter

  • sleep apnea syndrome
  • railroad controller
  • polygraph
  • work accident
Uneingeschränkter Zugang

Problems of Differential Diagnosis in Melanoma Arising from Blue Naevus

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 97 - 103

Zusammenfassung

Abstract

Melanoma arising from blue naevus is an exceedingly rare variant of melanoma. Most of the cases are located in head and neck area, with scalp the most affected site. This type of melanoma develops on blue naevus or resembles blue naevus, most frequently cellular blue naevus. We present the case of a 52 years old female diagnosed with a pigmented melanoma of the scalp, with maximum tumoral thickness of 6.8 mm and invasion of the hypodermis, highly resembling cellular blue naevus. All criteria of malignancy were present: prominent nuclear pleomorphism, infiltrative pattern, tumoral necrosis, high mitotic rate (11 mitoses/mm2) with atypical mitosis and high Ki67 index. No lymph node or distant metastases were identified at presentation.

Because of the rarity of cases, histopathological diagnosis can be difficult, differential diagnosis with blue naevi, atypical blue naevi or metastatic melanoma being the most challenging problems. Prognosis is given by tumoral thickness, frequently being more than 4 mm.

Schlüsselwörter

  • melanoma
  • blue naevus
Uneingeschränkter Zugang

Irritable Bowel Syndrome and the Small Intestinal Microflora. What We Do Know?

Online veröffentlicht: 07 Oct 2015
Seitenbereich: 105 - 109

Zusammenfassung

Abstract

Irritable bowel syndrome, one of the most common functional gastro intestinal disorders all over the world is considered to have a multi factorial pathogenesis. Recently more and more studies are focusing on the changes that take place in the micro biota of patients with irritable bowel syndrome, underlining the bacterial role in this pathogenesis. As a consequence, bacterial overgrowth, along with intestinal dysmotility, altered brain-gut axis and genetic factors are considered part of this pathophysiology. This report intends to summarize the actual knowledge on irritable bowel syndrome and small intestinal bacterial overgrowth syndrome, from details on the epidemiology, clinical manifestation, pathophysiology, diagnosis, treatment to details on the relationship between these two syndromes.

Schlüsselwörter

  • Irritable bowel syndrome
  • Small Intestinal bacterial overgrowth
  • Hydrogen breath tests
  • Rifaximin

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