Magnetic resonance imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism.

Introduction And Objectives: Isolated hypogonadotropic hypogonadism (IHH) may be associated with pituitary gland and olfactory system disorders. We aimed to correlate findings of magnetic resonance imaging (MRI) of the pituitary gland and olfactory system in IHH patients with the patients' olfactory phenotype.

Patients And Methods: The present research was a single-center retrospective case-control study.

Oral care pathways after oral mucosal graft harvesting: a systematic review.

Introduction: Oral mucosal grafts are essential in reconstructive urology, particularly for urethral and genital defects. Advances in harvesting and implantation techniques have been made, yet perioperative care remains crucial for optimal outcomes. This systematic review explores postoperative care pathways following oral mucosal graft harvesting to consolidate knowledge, identify best practices, and highlight research gaps.

Comparison of Vessel Density and Retinal Sensitivity After Scleral Buckling and Phacovitrectomy in the Management of Macula-on Primary Rhegmatogenous Retinal Detachment.

Purpose: The choice of surgical method for rhegmatogenous retinal detachment (RRD) may have a significant impact on the retina. In this study, we aimed to compare retinal function and structure after scleral buckling (SB) and phacovitrectomy (phaco-PPV) for macula-on RRD.

Patients And Methods: This cross-sectional study included patients who underwent anatomically successful repair of macula-on RRD managed with SB (n=35) and phaco-PPV (n=35) between 2019-2023.

Is urethral stricture really so often idiopathic? Exploring the etiology of urethral strictures in males undergoing urethroplasty: a multicenter retrospective cohort study.

Introduction: The aim of this study was to retrospectively evaluate the etiology of urethral stricture disease (USD) in a large series of patients undergoing urethroplasty.

Material And Methods: The multicenter retrospective cohort study was conducted at two reconstructive urology referral centers in years 2015-2022. Prior to the surgical intervention, all patients underwent diagnostic procedures including retrograde urethrography and voiding cystourethrography.

Navigating the Unique Challenges of Caregiving for Children with Rare Diseases: Are the Care Experiences of All Caregivers the Same? A Focus on Life-Limiting Rare Diseases.

: Caregiving experiences in rare diseases (RDs) vary based on factors such as specific clinical entity, disease severity, the child's age, and available support and resources, leading to challenges that significantly impact caregivers' lives. This study investigates whether caregivers of children with different RDs encounter varied aspects of care. : This study was conducted as a self-administered, anonymous, computer-assisted online survey, focusing on the challenges of caregiving for children with RDs.

Amino Acid Profile Alterations in Phenylketonuria: Implications for Clinical Practice.

Patients with phenylketonuria (PKU) must restrict their intake of phenylalanine, which can also affect the levels of other essential and non-essential amino acids due to inadequate supply. Therefore, our objective was to assess amino acids in serum samples from 20 PKU patients and compare them with results from 51 healthy subjects. A sample analysis was conducted using liquid chromatography-tandem mass spectrometry.

Cataract Surgery in nAMD Patients Receiving Intravitreal Aflibercept Injections.

To evaluate functional and anatomical outcomesof cataract surgery in neovascular age-related macular neovascularization (nAMD) eyes receiving anti-vascular endothelial growth factor (anti-VEGF) intravitreal injections in modified pro re nata (PRN) regimen. Sixty eyes of 60 nAMD patients, including 41 women (68.3%) and 19 men (31.

Pathogenic Potential of a PCK1 Gene Variant in Cytosolic PEPCK Deficiency: A Compelling Case Study.

BACKGROUND Cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) deficiency is an extremely rare autosomal recessive inherited error of metabolism in which gluconeogenesis is impaired, resulting in life-threatening episodes of hypoglycemia and metabolic acidosis. The diagnosis of gluconeogenesis disorders is challenging. In the diagnostic pathway, the molecular test plays a paramount role.

Machine learning approach for ambient-light-corrected parameters and the Pupil Reactivity (PuRe) score in smartphone-based pupillometry.

Introduction: The pupillary light reflex (PLR) is the constriction of the pupil in response to light. The PLR in response to a pulse of light follows a complex waveform that can be characterized by several parameters. It is a sensitive marker of acute neurological deterioration, but is also sensitive to the background illumination in the environment in which it is measured.

The Relationship between the Burden of Acromegaly, Associated Comorbidities, Complications and Disease Status.

Uncontrolled acromegaly causes increased morbidity and mortality. The analysis of acromegaly comorbidities and complications is important when establishing a standard of care for the entire population of acromegaly patients. The aim of this study was to determine the frequency of comorbidities and complications of acromegaly and their dependence on the activity of the disease.

Gene Polymorphisms and Their Roles in Acromegaly.

The major causes of both morbidity and mortality in patients with acromegaly are cardiovascular diseases (CVDs). The polymorphisms of the fat mass and obesity-associated gene ( are associated with obesity, as well as with an increased risk of CVDs. The aim of the study was to determine the relationship of risk alleles of four gene polymorphisms with selected parameters of lipid and glucose metabolism as well as with IGF-1 and GH levels in the group of patients with acromegaly compared to the control group.

Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland.

Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is a rare, inherited lysosomal storage disease. The disease is caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase (I2S) due to mutations in the gene, which leads to accumulation of glycosaminoglycans (GAGs). Deficiency of I2S enzyme activity in patients with MPS II leads to progressive lysosomal storage of GAGs in the liver, spleen, heart, bones, joints, and respiratory tract.

Akkermansia muciniphila and its membrane protein ameliorates intestinal inflammatory stress and promotes epithelial wound healing via CREBH and miR-143/145.

Background: The intestinal epithelial barrier is the interface for interaction between gut microbiota and host metabolic systems. Akkermansia muciniphila (A. muciniphila) is a key player in the colonic microbiota that resides in the mucus layer, whose abundance is selectively decreased in the faecal microbiota of inflammatory bowel disease (IBD) patients.

Ghrelin and Leptin Concentrations in Patients after SARS-CoV2 Infection.

SARS-CoV2 infection can lead to severe cytokine storm especially in obese patients. Ghrelin acts not only as an appetite regulator but can also play a key role in the immune reaction. Leptin, secreted mainly by the white adipose tissue, can act as a pro-inflammatory cytokine.

Cationic nanoemulsion vs. 0.15% sodium hyaluronate artificial tears in the healing process following modern surface keratorefractive surgery.

Purpose: The aim of this study was to investigate the influence of artificial tears containing either cationic nanoemulsion (CCN) or sodium hyaluronate artificial tears (SH) on early postoperative healing after modern surface refractive surgery.

Materials And Methods: In this multicenter, prospective, double-masked, parallel-group (1:1), comparative study, 129 patients (n = 255 eyes) were randomized to receive CCN (n = 128) or SH (n = 127) as an adjuvant treatment after either transepithelial photorefractive keratectomy (transPRK) or Epi-Bowman keratectomy (EBK). The patients' perspectives were gathered using the Ocular Surface Disease Index (OSDI) questionnaire, and uncorrected (UCVA), and corrected (BCVA) visual acuity were assessed before and one week and one month after the procedure.

The effect of dance workshops participation on reaction time in persons with moderate intellectual disabilities - pilot study.

Persons with intellectual disabilities who are physically active have faster reaction time compared to the physically inactive persons with intellectual disabilities (Yildirim et al. 2010). Aim: To recognize how participation in a series of hip-hop dance workshops can improve reaction time in persons with intellectual disabilities.

Vascular density and macular sensitivity in eyes after scleral buckling surgery for macula-on rhegmatogenous retinal detachment.

Purpose: To investigate the structure and function of the retina after scleral buckling (SB) surgery due to macula-on rhegmatogenous retinal detachment (RRD).

Methods: Twenty eyes with repaired macula-on RRD and 20 fellow eyes were included. All patients within 6-12 months of the procedure, were examined to evaluate retinal structure using spectral domain optical coherence tomography (SD-OCT) and vessel density (VD) by OCT angiography (OCTA).

Corneal Optical Densitometry in the Evaluation of 2-Year Graft Function Following Endothelial Keratoplasty.

This study aimed to assess clinical application of the Scheimpflug corneal tomography for objective evaluation of corneal optical density in eyes undergoing Descemet's stripping endothelial keratoplasty (DSEK). In this prospective study, 39 pseudophakic eyes with bullous keratopathy were enrolled. All eyes underwent primary DSEK.

Anthropometric Parameters in Patients with Fatty Acid Oxidation Disorders: A Case-Control Study, Systematic Review and Meta-Analysis.

This study compared the anthropometric parameters of patients with fatty acid oxidation disorders (FAOD) and healthy controls, showing an increased prevalence of abnormal body weight (overweight and obesity) in the FAOD group. First, differences in BMI, BMI percentiles and z-scores, and weight and weight percentiles were compared in a cohort of 39 patients with FAOD and 156 healthy controls, as well as between patients born before and after the introduction of a populational newborn screening programme (NBS) in 2014 in Poland. We also performed a systematic literature review yielding 12 studies mentioning anthropometric parameters in 80 FAOD patients and 121 control subjects, followed by a meta-analysis of data from 8 studies and our cohort.

Intravitreal Carboplatin as Salvage Treatment for Progressive Vitreous Disease in Retinoblastoma: A Phase I Clinical Trial.

Purpose: To determine the safety and toxicity profile of intravitreal carboplatin as salvage treatment for retinoblastoma with vitreous disease.

Design: Single-institution, interventional prospective clinical trial.

Participants: Patients with progressive or recurrent vitreous seeds after completion of primary treatment for intraocular retinoblastoma.

Swept-source OCT for corneal graft quantitative evaluation in the eye bank and the correlation of the measurements to pre-excision values.

Quantitative evaluation of the human corneal grafts stored in the tissue banks is usually limited to endothelial cell density and central thickness. Swept-source OCT (SS-OCT) is capable of measuring the central curvatures of the corneal tissue prepared for transplantation without loss of sterileness, providing insights on its refractive state. The aim of the paper is to compare in vitro SS-OCT measurements with pre-excision values.

Ionizing radiation and volumetric mammographic density.

Objectives: Mammographic density (MD) refers to the percentage of dense tissue of an entire breast and was proposed to be used as a surrogate marker for breast cancer. High-dose ionizing radiation (IR) has been recognized as a breast cancer risk factor. The aim of our study was to investigate association between lifetime low dose ionizing radiation (LDIR) and MD.

Acromegaly Caused by Ectopic Growth Hormone Releasing Hormone Secretion: A Review.

Introduction: Ectopic acromegaly is a rare condition caused most frequently by growth hormone releasing hormone (GHRH) secretion from neuroendocrine tumors. The diagnosis is often difficult to establish as its main symptoms do not differ from those of acromegaly of pituitary origin.

Objectives: To determine most common clinical features and diagnostic challenges in ectopic acromegaly.