Genetics in ophthalmology: molecular blueprints of retinoblastoma.

This review presents current knowledge on the molecular biology of retinoblastoma (RB). Retinoblastoma is an intraocular tumor with hereditary and sporadic forms. 8,000 new cases of this ocular malignancy of the developing retina are diagnosed each year worldwide.

Novel Variant c.134A>G, p.(Tyr45Cys): Phenotype-Genotype Correlation Revealed Likely Benign Clinical Significance.

Pathogenic variants in are associated with autosomal dominant retinitis pigmentosa 10 (RP10), and Leber congenital amaurosis 11. This case report of a 13-year-old girl with Down's syndrome and keratoglobus is aimed at linking the novel variant c.134A>G, p.

Enteroenteric intussusception caused by a small bowel metastatic cutaneous melanoma.

Unlike in children, intussusception is very rare in adults and accounts for only 1% of ileus in that population. While intussusception in children is most often idiopathic, in adults the cause of intussusception in most cases is tumor and most often metastatic adenocarcinoma. It is an extremely rare phenomenon for intestinal melanoma metastasis to be the cause of intussusception and has been described in the literature so far only in a limited number of case reports.

New Assessment Tool-Postpartum Functional Assessment Questionnaire.

: Functional status of the mother after delivery is crucial for performing activities of daily living and caring for the newborn. It is important to assess functional abilities after childbirth in order to improve the quality of postpartum care. The aim of this study is to determine the psychometric properties of the questionnaire and assess the functional abilities after childbirth.

Core Decompression Combined with Intraosseous Autologous Conditioned Plasma Injections Decreases Pain and Improves Function in Patients with Symptomatic Knee Bone Marrow Lesions.

The purpose of this prospective case series was to determine the effectiveness of using a combination of the core decompression and injection of autologous conditioned plasma (ACP) for the treatment of symptomatic knee bone marrow lesions (BML), as well as to report on the preliminary clinical results based on magnetic resonance imaging (MRI) and patient-reported outcomes (PROMs). Patients with OA-related BML who failed to improve on conservative treatment for three months underwent an identical procedure consisting of arthroscopy, core decompression, and the intraosseous injection of ACP and were followed up for 12 months. A statistically significant reduction in pain and an improvement in function, as measured by the Numeric Pain Rating Scale (NPRS) and Knee Injury and Osteoarthritis Outcome Score (KOOS), was observed at one-week follow-up (8.

MMP3 single-nucleotide polymorphisms are associated with noncontact ACL injuries in competing high-level athletes.

Matrix metalloproteinases (MMPs) play an important role in matrix remodeling, as well as in ligament integrity. Anterior cruciate ligament (ACL) rupture is a severe and frequent knee injury in sports. The aim of this study was to investigate polymorphisms within the MMP3 gene with the predisposition for noncontact ACL rupture in the Croatian professional athletes.

Are religious patients less afraid of surgery? A cross-sectional study on the relationship between dimensions of religiousness and surgical fear.

Introduction: Surgical fear is common and has a negative impact on surgery and its outcome. Recent research has identified individual religiousness as an important factor among patients with associations to mental health, particularly anxiety.

Objective: This study aimed to examine associations between religiousness and surgical fear in a representative sample of adult surgical patients in Croatia.

Infrarenal inferior vena cava agenesis presenting as acute abdomen and hydronephrosis - case report.

The inferior vena cava agenesis (IVCA) is a rare and often asymptomatic malformation due to the abundant development of the collateral circulation. However, it is frequently found in young people and carries a significant risk of deep venous thrombosis (DVT). It is estimated that about 5% of patients under 30 years of age presenting with DVT have this condition.

Serological Response to SARS-CoV-2 Vaccine in Hemodialyzed Patients and the Association with Later COVID-19 Positivity.

Background: The effectiveness of the COVID-19 vaccine may differ in hemodialysis patients. The aim of this prospective multicenter study was to determine the degree of serological response to the SARS-CoV-2 vaccine in the population of dialysis patients and its association with later SARS-CoV-2 infections.

Methods: A blood sample was taken for the determination of COVID-19 serological status (IgG antibodies) in 706 dialysis patients 16 weeks after vaccination with the second dose (Pfizer-BioNTech).

Stable Gastric Pentadecapeptide BPC 157 May Recover Brain-Gut Axis and Gut-Brain Axis Function.

Conceptually, a wide beneficial effect, both peripherally and centrally, might have been essential for the harmony of brain-gut and gut-brain axes' function. Seen from the original viewpoint of the gut peptides' significance and brain relation, the favorable stable gastric pentadecapeptide BPC 157 evidence in the brain-gut and gut-brain axes' function might have been presented as a particular interconnected network. These were the behavioral findings (interaction with main systems, anxiolytic, anticonvulsive, antidepressant effect, counteracted catalepsy, and positive and negative schizophrenia symptoms models).

Cellular and Genetic Background of Osteosarcoma.

Osteosarcoma describes a tumor of mesenchymal origin with an annual incidence rate of four to five people per million. Even though chemotherapy treatment has shown success in non-metastatic osteosarcoma, metastatic disease still has a low survival rate of 20%. A targeted therapy approach is limited due to high heterogeneity of tumors, and different underlying mutations.

DYMUS-Hr self-assessment questionnaire (Croatian version) for dysphagia in multiple sclerosis-validity, reliability, and cross-cultural adaptation.

Background: The prevalence of dysphagia in the early phases of multiple sclerosis is 30-40%, with an estimated of 30% of cases going undiagnosed cases. Such complications can lead to malnutrition, dehydration, and aspiration pneumonia and have a great impact on the quality of life and psychosocial status of a person with MS. The aim of this study was the validation of dysphagia in multiple sclerosis self-assessment questionnaire (DYMUS) in the Croatian language.

Papillary thyroid carcinoma within a mature cystic ovarian teratoma.

Mature cystic ovarian teratoma (dermoid cyst) is the most common germ cell tumor. Malignant tissue alteration in mature cystic teratoma is extremely rare, and malignant proliferation of thyroid tissue has been documented in only a few cases. This article presents a case of incidentally detected papillary microcarcinoma (PTMC) within a mature cystic ovarian teratoma.

N-Terminal chemical derivatization of peptides with 4-formyl-benzenesulfonic acid and electrospray positive and negative tandem mass spectrometry with high abundance of b-ion series.

Rationale: Selective derivatization of peptide N-terminus with 4-formyl-benzenesulfonic acid (FBSA) enables chemically activated fragmentation in positive and negative ion modes (ESI+/-) under charge reduction conditions. Overlapped positive and negative tandem mass spectra show b-ions making the assignment of b-ion series fragments easy and accurate.

Methods: We developed an FBSA-peptide microwave-assisted derivatization procedure.

Perimyocarditis as First Manifestation of Systemic Lupus Erythematosus Successfully Treated with Heart Failure and Immunosuppressive Therapy.

Systemic lupus erythematosus (SLE) myocarditis is presumed to be rare, but associated with adverse outcomes. If SLE diagnosis has not previously been established, its clinical presentation is often unspecific and difficult to recognize. Furthermore, there is a lack of data in the scientific literature regarding myocarditis and its treatment in systemic immune-mediated diseases, leading to its late recognition and undertreatment.

Hemispherotomy in an infant with hemimegalencephaly and Ohtahara syndrome.

We represent the case of a premature twin neonate born from uncomplicated pregnancy who developed seizures at the age of 24 h. Two-dimensional ultrasound and magnetic resonance imaging revealed left-sided hemimegalencephaly. Further extensive diagnostic evaluation revealed a diagnosis of Ohtahara syndrome.

Recommendation for the design of stability studies on clinical specimens.

Objectives: Knowledge of the stability of analytes in clinical specimens is a prerequisite for proper transport and preservation of samples to avoid laboratory errors. The new version of ISO 15189:2022 and the European directive 2017/746 increase the requirements on this topic for manufacturers and laboratories. Within the project to generate a stability database of European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) Working Group Preanalytical Phase (WG-PRE), the need to standardise and improve the quality of published stability studies has been detected, being a manifest deficit the absence of international guidelines for the performance of stability studies on clinical specimens.

Colorectal adenocarcinoma presenting with a pathological fracture due to a solitary bone metastasis to the tibia: a case report and literature review.

Introduction: Solitary bone metastasis of colorectal carcinoma (CRC) without other metastasis sites is extremely rare and can be found in less than 1% of patients with CRC.

Aim: In the present study, we report the first case of a solitary tibia metastasis and its pathologic fracture as the first presenting feature of a colorectal adenocarcinoma.

Material And Methods: A 78-year-old female patient presented to our emergency department due to atraumatic pretibial swelling.

ASSESSMENT OF STANDARD ANTHROPOMETRIC AIRWAY CHARACTERISTICS RELEVANT FOR AIRWAY MANAGEMENT OF PATIENTS WITH OBSTRUCTIVE SLEEP APNEA SYNDROME DURING SLEEP BREATHING DISORDER SURGERY: A RETROSPECTIVE, SINGLE CENTER STUDY.

The aim of this study was to explore standard anthropometric airway characteristics of patients with obstructive sleep apnea syndrome (OSAS) and determine the incidence and risk factors for difficult airway management. Final analysis included 91 patients with polysomnography-verified diagnosis of OSAS who underwent sleep breathing disorder surgery under general anesthesia with direct laryngoscopy oroendotracheal intubation. The incidence of difficult manual mask ventilation during anesthesia induction, difficult intubation and immediate postextubation respiratory complications was 17.

AIRWAY MANAGEMENT GUIDELINES IN OBSTETRICS.

Anatomic and physiologic changes during pregnancy make it more difficult to establish a safe airway in pregnant women in case of the need for surgery under general anesthesia than in the non-obstetric population. The inability to ventilate and oxygenate is one of the most common causes of morbidity and mortality associated with general anesthesia for cesarean section. The aim of this paper is to present and analyze modern guidelines and algorithms for the management of difficult airway in obstetrics as an important segment of anesthesiology practice.

WHOLE RANGE OF RESPIRATORY SUPPORT IN A PREGNANT WOMAN WITH A SEVERE FORM OF COVID-19 INFECTION: A CASE REPORT.

Acute respiratory syndrome caused by a novel coronavirus (SARS-CoV-2) in pregnant women can progress to a critical condition. In this paper, we present a case of a woman in the 28th week of gestation hospitalized due to respiratory insufficiency caused by COVID-19 infection and consequent bilateral pneumonia with development of severe acute respiratory distress syndrome. Noninvasive ventilation through a face mask was started but due to progression of respiratory insufficiency with high FiO2 and positive end expiratory pressure (PEEP), we decided to intubate the patient, after which obstetricians agreed to complete pregnancy by cesarean section.

PREOPERATIVE SINGLE ANTHROPOMETRIC SCREENING TESTS OF DIFFICULT FACE MASK VENTILATION AND DIFFICULT DIRECT LARYNGOSCOPY INTUBATION IN PATIENTS UNDERGOING OTORHINOLARYNGOLOGICAL SURGERY: A PROSPECTIVE, OBSERVATIONAL, SINGLE CENTER STUDY.

The aim of this study was to assess preoperative airway history data and single anthropometric screening tests of difficult face mask ventilation (FMV) and difficult direct laryngoscopy intubation (DLI) in otorhinolaryngological surgery. Final analysis included 62 patients aged ≥14 years undergoing elective surgery with endotracheal intubation at a single center during a one-month period. Data on difficult intubation history, airway symptoms and pathology related to difficult airway were prospectively collected.