[Lysosomal acid lipase deficiency in children: our experience and a novel possibility of enzyme replacement therapy]. / Manjak lizosomske kisele lipaze u djece: vlastita iskustva i nova mogucnost enzimskoga nadomjesnog lijecenja.

Lysosomal acid lipase deficiency is an autosomal recessive disorder with two distinct clinical phenotypes. Wolman disease is rapidly progressive with onset in early infancy. Complete enzyme deficiency results in massive accumulation of cholesterol esters and triglycerides in intestines, liver, spleen and other monocyte-macrophage system cells causing malabsorption, hepatosplenomegaly, liver failure and death in early infancy. Cholesterol ester storage disease may be diagnosed in childhood or later in life. It is characterized by chronic course and variable progression. Main features are variously expressed hepatopathy, including cirrhosis and liver failure, hypercholesterolemia and premature atherosclerosis. Characteristic is pathohistological finding of microvesicular steatosis and fibrosis and patognomonic are typical cholesterol ester crystals. Diagnosis is confirmed by enzyme assay and/or gene analysis. Until recently treatment was symptomatic. Ongoing clinical trials of enzyme replacement therapy have shown very promising results. We are presenting an infant with Wolman disease and two children with cholesterol ester storage disease with the aim to raise awareness about this disease and to start optimal care early.

[Clinical recommendations for diagnosing, treatment and monitoring of patients with endometrial cancer -- Croatian Oncology Society and Croatian Society for Gynecology and Obstetrics as Croatian Medical Association units and Croatian Society of Gynecological Oncology]. / Klinicke upute za dijagnostiku, lijecienje i pracenje bolesnica oboljelih od raka maternice hrvatskoga onkoloskog drustva i hrvatskog drustva za ginekologiju i opstetriciju hrvatskoga lijecni(ckog zbora te hrvatskoga ginekoloskoonkoloskog drustva.

Uterine cancer occurs mainly in postmenopausal women, usually as vaginal bleeding. Following ovarian and cervical cancer it is the third most common cause of female reproductive system cancer death. Diagnosis is set by analyzing samples obtained via hysterectomy with salpingo-oophorectomy and pelvic / paraaortal lymphadenectomy. The following text presents the clinical guidelines in order to standardize the procedures and criteria for the diagnosis, treatment and monitoring of patients with uterine cancer in the Republic of Croatia.

[Diffuse infantile hepatic hemangioendothelioma: a case report]. / Difuzni infantilni hepatalni hemangioendoteliom: prikaz bolesnika.

Infantile hepatic hemangioendothelioma (IHHE) is the most common benign hepatic tumor in children (12% of hepatic tumors), that usually responds well to therapy and has low mortality rates. In extremely rare cases of diffuse tumors resistant to therapy, size and blood flow can lead to cardiorespiratory failure and death. A 3-month-old male infant presented with respiratory infections and an abdominal mass, with frequent broncho-obstructive attacks. The CT, MRI and DSA exams showed typical morphology of hemangiendothelioma that was proven on histopathological biopsy. The tumor was resistant to standard medical therapy, and its volume led to cardiopulmonary arrest and death at 13 months of age. In rare cases of diffuse therapy-resistant IHHE a liver transplantation should be considered as an earlier treatment.

[Clinical recommendations for diagnosing, treatment and monitoring of patients with uterine cervical cancer -- Croatian Oncology Society and Croatian Society for Gynecology and Obstetrics as Croatian Medical Association units and Croatian Society of Gynecological Oncology]. / Klinicke upute za dijagnostiku, lijecenje i pracenje bolesnica oboljelih od raka vrata maternice hrvatskoga onkoloskog drustva i hrvatskog drustva za ginekologiju i opstetriciju hrvatskoga lije nickog zbora te hrvatskoga ginekoloskoonkoloskog drustva.

Cervical cancer, in comparison with other gynecological malignancies, mainly affects younger women. It can be prevented trough educational programs, screening and early detection. It also can be efficiently treated when it appears. Treatment modalities include surgery, chemotherapy and radiotherapy, according to the stage of the disease and patient condition. Treatment decisions should be made after multidisciplinary team discussion. Due to the significance of this disease it is important to define and implement standardized approach for diagnostic, treatment and monitoring algorithm as well. The following text presents the clinical guidelines in order to standardize the procedures and criteria for the diagnosis, management, treatment and monitoring of patients with uterine cervical cancer in the Republic of Croatia.

[Treatment of empyema thoracis in children]. / Lijecenje empijema prsista u djece.

Empyema, an accumulation of infected fluid in the thoracic cavity, is commonly secondary to bacterial pneumonia in children. Despite the high prevalence and availability of many medical treatment options, there is no general consensus on the optimal management approach, which would lead to full and rapid recovery. Especially, there are the big differences in treatment options for the child with empyema. Regardless of the differences in the procedures, the ultimate outcomes are good. This article reviews the current literature and discusses the important considerations in managing these patients. This paper describes thoracoscopic and open thoracic surgery procedures in children. The authors present their own observations based on years of experience in the treatment of thoracic empyema.

[Clinical guidelines for diagnosing, treatment and monitoring patients with testicular cancer--Croatian Oncology Society and Croatian Urology Society, Croatian Medical Association]. / Klinicke upute za dijagnostiku, lijecenje i pracenje bolesnika oboljelih od raka testisa Hrvatskoga Onkoloskog Drustva i Hrvatskoga Uroloskog Drustva Hrvatskoga Lijecnickog Zbora.

Testicular tumors are the most common solid tumors in men between 15 and 34 years of age. The worldwide incidence of these tumors has doubled in the past 40 years. Germ cell tumors comprise 95% of malignant tumors arising in the testes and they are classified either as seminoma or nonseminoma. Testicular cancers have a high cure rates even in disseminated stage of the disease. The chemotherapy mostly contributed to these results but surgery is an inevitable part of successful treatment. In a significant number of these patients treatment algorithms with minimum side effects are designed with the intention to maintain same cure rates as previously used, more aggressive therapy. The following text presents the clinical guidelines in order to standardize the procedures and criteria for diagnosis, management, treatment and follow-up of patients with testicular cancer in Republic of Croatia.

[Clinical guidelines for diagnosing, treatment and monitoring patients with prostate cancer--Croatian Oncology Society and Croatian Urology Society, Croatian Medical Association]. / Klinicke upute za dijagnostiku, lijecenje i pracenje bolesnika oboljelih od raka prostate Hrvatskoga Onkoloskog Drustva i Hrvatskoga Uroloskog Drustva Hrvatskoga Lijecnickog Zbora.

Prostate adenocarcinoma is the second most common solid neoplasm in male population in Croatia. It rarely causes symptoms unless it is advanced. The finding of PSA rise is the most common reason for diagnostic workout. Treatment plan is based on TNM classification, Gleason score and PSA. Clinically localized disease is successfully treated by radical prostatectomy or radiotherapy with or without hormonal therapy. Locally advanced disease is treated with radiotherapy and hormonal therapy. Metastatic disease can be controlled for many years by androgen deprivation. For castration resistant disease appropriate treatment is chemotherapy or secondary hormonal therapy. The following paper presents the clinical guidelines in order to standardize procedures and criteria for the diagnosis, management, management, treatment and monitoring of patients with prostate cancer in the Republic of Croatia.

[The role of magnetic resonance imaging in seronegative spondyloarthritides]. / Uloga magnetske rezonancije u seronegativnim spondiloartritisima.

Seronegative spondyloarthritides (SpA) is a group of inflammatory rheumatic diseases characterized by inflammation of the sacroiliac joints and/or the spine, enthesitis and peripheral arthritis. MRI is the imaging method of choice for visualization of the sacroiliac joint and spine according to the new ASAS classification criteria for axial SpA. It can visualize both active inflammation and structural damage and is not associated with radiation exposure. MRI findings characteristic for active disease include bone marrow edema and contrast enhancement of the bone marrow and the joint space, while chronic changes include bone erosions, sclerosis, periarticular fatty tissue accumulation, bone spurs and ankylosis. MRI has higher sensitivity comparing to other radiological modalities. MRI.is the most important diagnostic imaging method in early SpA. It is sensitive and reliable for objective monitoring of the disease process and it is essential in the management of patients with SpA.

(Mis)placed central venous catheter in the left superior intercostal vein.

BACKGROUND: Chest X-ray is routinely performed to check the position of the central venous catheter (CVC) inserted through the internal jugular or subclavian vein, while the further evaluation of CVC malfunction is usually performed by contrast venography. In patients with superior vena cava obstruction, the tip of the catheter is often seen in collateral mediastinal venous pathways, rather than in the superior vena cava. In such cases detailed knowledge of thoracic vessel anatomy is necessary to identify the exact location of the catheter. CASE REPORT: We report a case of 32-year-old female patient with relapsing mediastinal lymphoma and previous superior vena cava obstruction with collateral azygos-hemiazygos venous pathways. The patient had CVC inserted through the left subclavian vein and its position was detected by CT to be in the dilated left superior intercostal vein and accessory hemiazygos vein. Considering that dilated accessory hemiazygos vein can tolerate infusion, the CVC was left in place and the patient had no complaints related to CVC (mal)position. Furthermore, we present anatomical and radiological observations on the azygos-hemiazygos venous system with the special emphasis on the left superior intercostal vein. CONCLUSIONS: Non-contrast CT scans can be a valuable imaging tool in the detection of the CVC position, especially in patients with renal insufficiency and contrast media hypersensitivity.

Chronic Budd-Chiari syndrome as a rare complication of Crohn's disease: a case report.

The Budd-Chiari syndrome (BCS) is characterized by hepatic venous outflow obstruction involving the hepatic veins, inferior vena cava, or both. BCS has occasionally been reported in the literature as a very rare complication of ulcerative colitis. However, association of Crohn's disease (CD) and BCS is extremely rare with only a single case reported in the world literature to date. We report a case of a young woman with chronically active, therapy-resistant CD who developed massive ascites, elevation of liver enzymes, and coagulopathy in the course of her disease. She was subsequently diagnosed with BCS for which a successful liver transplantation was performed. Chronically active therapy resistant CD and methylenetetrahydrofolate reductase gene mutation have been identified as possible risk factors for development of BCS in this patient.

Post-traumatic high-flow priapism treated by endovascular embolization using N-butyl-cyanoacrylate.

BACKGROUND: Priapism, persistent erection without arousal, can be classified into low-flow (venous or ischemic) and high-flow (arterial or non-ischemic). The diagnosis of high-flow priapism can be confirmed by colour Doppler and arteriography and it is usually treated by the endovascular embolization. CASE REPORT: We present a case of a 20-year-old man with a post-traumatic high-flow priapism as a result of the previous perineal trauma. After a period of watchful waiting and an unsuccessful attempt at endovascular embolization using the resorptive gelatinous foam he was successfully treated by the endovascular embolization using N-butyl-cyanoacrylate. CONCLUSIONS: High-flow priapism can be successfully treated by the endovascular embolization, but the optimal choice of the embolization agent and a careful technique is essential.

Cross-sectional imaging of the pelvic tumors and tumor-like lesions in gynecologic patients-misinterpretation points and differential diagnosis.

Computed tomography and/or magnetic resonance imaging were performed in 42 female patients with suspected pelvic mass. Surgical and histopathological reports were compared to the imaging findings, yielding mismatch in five (17.8%) patients. One benign cyst and one case of postirradiation fibrosis were characterized as recurrent tumors, one surgically transposed ovary as metastasis, and an ovarian torsion as ovarian tumor, and a pelvic hematoma was mistaken for abscess. The most common false-positive finding on a per-lesion basis was that of enlarged lymph nodes.

Characteristics of typical and atypical meningiomas on ADC maps with respect to schwannomas.

The differences in apparent diffusion coefficient (ADC) between typical and atypical meningiomas and schwannomas were investigated, with 41 patients included in the study. There were no significant differences in ADC values or ADC ratios between typical and atypical meningiomas. The discrimination between schwannomas and the typical and atypical meningiomas on ADC maps was reliable, with significant differences in ADC values and ratios and with the narrow range of ADC values in meningiomas.

Ewing's sarcoma of the third metatarsal: a case report and review of the literature.

We report a rare case of Ewing's sarcoma involving the third metatarsal bone and spreading into adjacent bone in a 23-year-old man, with special emphasis on imaging characteristics. On radiographs the tumor presented as a permeative lytic lesion with aggressive periosteal reaction and cortical destruction. Computed tomography and magnetic resonance imaging delineated the osseous and soft tissue extent of the tumor. A large soft-tissue mass around the involved bone was highly indicative of Ewing's sarcoma. Cortical invasion of the neighboring second metatarsal was seen only on magnetic resonance imaging. Increased up-take of technetium 99m methylene diphosphonate was noticed on bone scintigraphy. An early diagnosis of Ewing's sarcoma, even when it occurs in unusual locations, is necessary for adequate treatment and is of particular importance in terms of prognosis. The optimal imaging modality for the diagnosis of Ewing's sarcoma is magnetic resonance imaging since it allows accurate analysis of the soft-tissue component and visualization of possible local invasion of adjacent structures.