Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy.

Spinal muscular atrophy (SMA) is a progressive degenerative illness that affects 1 in every 6 to 11,000 live births. This autosomal recessive disorder is caused by homozygous deletion or mutation of the gene (survival motor neuron). As a backup, the gene has the gene, which produces only 10% of the functional SMN protein.

Applying Explainable Machine Learning Models for Detection of Breast Cancer Lymph Node Metastasis in Patients Eligible for Neoadjuvant Treatment.

Background: Due to recent changes in breast cancer treatment strategy, significantly more patients are treated with neoadjuvant systemic therapy (NST). Radiological methods do not precisely determine axillary lymph node status, with up to 30% of patients being misdiagnosed. Hence, supplementary methods for lymph node status assessment are needed.

Haemoglobin A1c-based screening for prediabetes and diabetes mellitus: a multi-center study in Croatian adult population.

Introduction: Based on the hypothesis that there is a substantial rate of adults with prediabetes and undiagnosed diabetes mellitus (DM), our aim was to perform haemoglobin A1c (HbA)-based screening in a cohort of Croatian adults and estimate the prevalence of prediabetes and undiagnosed DM according to American Diabetes Association criteria.

Materials And Methods: This multi-center, cross-sectional study performed in six Croatian hospitals included 5527 patients aged 40 to 70 years admitted to the Emergency Department or undergoing a primary care check-up. Haemoglobin A1c was measured from leftover whole blood samples using the enzymatic method on either Alinity c or Architect c-series analyser (Abbott Laboratories, Chicago, USA).

Expanding the morphologic spectrum of chromophobe renal cell carcinoma: A study of 8 cases with papillary architecture.

Although typically arranged in solid alveolar fashion, chromophobe renal cell carcinoma (RCC) may also show several other architectural growth patterns. We include in this series 8 chromophobe RCC cases with prominent papillary growth, a pattern very rarely reported or only mentioned as a feature of chromophobe RCC, which is lacking wider recognition The differential diagnosis of such cases significantly varies from the typical chromophobe RCC with its usual morphology, particularly its distinction from papillary RCC and other relevant and clinically important entities. Of 972 chromophobe RCCs in our files, we identified 8 chromophobe RCCs with papillary growth.

Endothelial progenitor cells (EPCs) in ageing and age-related diseases: How currently available treatment modalities affect EPC biology, atherosclerosis, and cardiovascular outcomes.

Endothelial progenitor cells (EPCs) are mononuclear cells that circulate in the blood and are derived from different tissues, expressing cell surface markers that are similar to mature endothelial cells. The discovery of EPCs has lead to new insights in vascular repair and atherosclerosis and also a new theory for ageing. EPCs from the bone marrow and some other organs aid in vascular repair by migrating to distant vessels where they differentiate into mature endothelial cells and replace old and injured endothelial cells.

Dipeptidyl peptidase 9 (DPP9) in human skin cells.

Background: Dipeptidyl peptidase 9 (DPP9) is a relatively new member of the DPPIV family of prolyl dipeptidases which is ubiquitously expressed. Its role in regulation of immune responses and proliferation of epithelial carcinoma cells was reported. There is no data on possible role of DPP9 expressed in skin epithelial cells (keratinocytes) and in dermal fibroblasts.

Methylated Host Cell Gene Promoters and Human Papillomavirus Type 16 and 18 Predicting Cervical Lesions and Cancer.

Change in the host and/or human papillomavirus (HPV) DNA methylation profile is probably one of the main factors responsible for the malignant progression of cervical lesions to cancer. To investigate those changes we studied 173 cervical samples with different grades of cervical lesion, from normal to cervical cancer. The methylation status of nine cellular gene promoters, CCNA1, CDH1, C13ORF18, DAPK1, HIC1, RARβ2, hTERT1, hTERT2 and TWIST1, was investigated by Methylation Specific Polymerase Chain Reaction (MSP).

Consensus statement on screening, diagnosis, classification and treatment of endemic (Balkan) nephropathy.

Currently used diagnostic criteria in different endemic (Balkan) nephropathy (EN) centers involve different combinations of parameters, various cut-off values and many of them are not in agreement with proposed international guidelines. Leaders of EN centers began to address these problems at scientific meetings, and this paper is the outgrowth of those discussions. The main aim is to provide recommendations for clinical work on current knowledge and expertise.

History and factors of survival of total hip arthroplasty.

Since the 1960s total hip arthroplasty (THA) has represented one of the greatest accomplishments in orthopedic surgery. It improves the functionality, working ability and quality of life of patients with non-functional hip joint due to various reasons. This article reviews general and regional history of THA, current knowledge and concepts regarding the long-term outcomes of the procedure and emphasizes the need for establishing national (and international) THA registries as an essential way of gathering data critical for decision making in daily practice as well as in defining national healthcare policies in respect to arthroplasty procedures.

Influence of passive smoking on functional abilities in children.

Passive smoking has been found to be associated with a large number of disorders of passive smokers. It seems that the children are the most susceptible population for harmful effects of passive smoke exposure. The aim of this study was to evaluate the effect of passive smoking on children's functional abilities.

Photosensitivity skin disorders in childhood.

Photosensitivity in childhood is caused by a diverse group of diseases. A specific sensitivity of a child's skin to ultraviolet light is often the first manifestation or a clinical symptom of photodermatosis. It might indicate a serious underlying systemic disease such as lupus erythematosus or dermatomyositis, or a rare group of genetic skin disorders like Xeroderma pigmentosum, Cockayne syndrome, Trichothyodystrophy, Bloom syndrome, Rothmund-Thomson and Kindler syndrome as well as metabolic disorders and cutaneous porphyria.

Psychological status and illness perceptions in patients with melanoma.

A diagnosis of cancer and its treatment can create considerable distress, anxiety and depression for both patients and their families. The emotional impact of melanoma can be long lasting and profound, although the data in this field is inconsistent. Our last study showed that melanoma has a medium influence on patients' psychological status and quality of life.

Heterogeneity of DNA content in laryngeal squamous cell carcinoma in relation to histopathological variables.

Conclusion: Multivariate analysis showed age, lymph node status, proliferative index in transformation border, and DNA index in the center of laryngeal squamous cell carcinoma to be significant predictors for survival. By accessing distinctive areas of the tumor we were able to reduce the impact of intratumoral heterogeneity on prognostic factors.

Objectives: Laryngeal carcinomas are characterized by considerable histological variation within the tumor.

Double synovial cyst of the proximal tibiofibular joint confirmed by MRI as a cause of the peroneal tunnel syndrome.

The aim of this case report is to present an unusual double synovial cyst that arose from the proximal tibiofibular joint compressing the peroneal nerve in the peroneal tunnel and was unrecognized at the beginning. According to the review of literature back to 1891, only 62 cases of cysts originating from the proximal tibiofibular joint (PTFJ) have been described. We report a case of a 32 year old male patient who was admitted to the Department of Orthopaedic Surgery because of a classic peroneal tunnel syndrome of the left leg.

Surgical evaluation of magnetic resonance imaging findings in piriformis muscle syndrome.

Objective: The objective of this study was to evaluate the accuracy of magnetic resonance imaging (MRI) in the diagnosis of the piriformis muscle syndrome (PMS).

Materials And Methods: In ten patients, seven female and three male, with a long history of clinical symptoms of the PMS, an MRI was performed as the last preoperative diagnostic tool. All patients were imaged using 2T MR system (Elscint, Haifa, Israel).

Persistent oxidative stress after myocardial infarction treated by percutaneous coronary intervention.

Acute myocardial infarction causing cardiac ischemia is responsible for the majority of cardiac related deaths. Medical interventions that ensure rapid reperfusion, such as percutaneous coronary intervention, are aimed to allow myocardial re-oxygenation. However, this generates reactive oxygen species, resembling ischemia-reperfusion type of injury based on oxidative stress.

The role of duplex-doppler ultrasonography in the diagnosis of renal dysfunction and hepatorenal syndrome in patients with liver cirrhosis.

Background/aims: Kidney dysfunction commonly develops in patients with liver cirrhosis. Renal failure develops due to renal vascular constriction and can be present weeks or even months before clinical signs or increased levels of blood urea nitrogen or serum creatinine concentrations become detectible. The objective of this study was to analyze the value of renal interlobar arterial resistance index, measured by duplex-Doppler ultrasonography for detecting early impairment of renal function in patients with liver cirrhosis and its possible use in detecting a subgroup of patients with a higher risk of developing hepatorenal syndrome.

Effect of infection with Trichophyton mentagrophytes varietas interdigitale on phagocytosis in humans.

Background And Aim: Phagocytosis by polymorphonuclear leucocytes (PMNLs) and macrophages is important in the defence of human organisms, especially in mycotic infections of the skin. The aim of this study was to examine the relationship between phagocytosis and a chronic type of infection with Trichophyton mentagrophytes varietas interdigitale (T. m.

Comparison of surgical treatments of gallstone ileus: preliminary report.

Gallstone ileus is an uncommon cause of small bowel obstruction, accounting for only 1% to 4% of all intestinal obstructions. In the group of patients over 65 years of age, gallstones cause about 25% of all non-strangulated obstructions of the small bowel. Gallstone ileus is burdened with high mortality rate, ranging from 12% to 18%, and most patients are of advanced age, with many other concomitant diseases that may increase the operative risk.

Comparative study of pterygium surgery.

The aim of this study was the comparison of recurrence rates of pterygia following different surgical methods. Twenty-one patients were operated by the bare sclera technique, with the application of mitomycin C (0.25 mg/ml for 2 min).

Safety of simultaneous resections of colorectal cancer and liver metastases.

Liver resection is the only potentially curative method for patients with colorectal cancer metastases and 5-year survival rates are 20%-40%. Simultaneous resection of colorectal cancer and synchronous liver metastases has been recommended if minor hepatectomy is indicated. The purpose of this paper is to analyze the treatment of hepatic colorectal secondaries and to assess the safety of simultaneous and delayed liver resections and relations of morbidity to the extensiveness of hepatectomy and perioperative factors.

Evolution of clinical symptoms in a young woman with a recurrent gonadotroph adenoma causing ovarian hyperstimulation.

Objective: To demonstrate the clinical course in a young female with gonadotroph adenoma causing ovarian stimulation.

Patient And Methods: Our patient was a 23-year-old woman with a history of oligomenorrhea who had previously undergone bilateral ovarian wedge resection owing to the clinical appearance of polycystic ovaries. Two years later, she sought treatment for headache, galactorrhea, history of spotting and lower abdominal distension.