Gene Mutation-Negative Malignant Melanoma in a Prepubertal Patient: A Clinical and Molecular Case Report.

Conventional melanoma is exceedingly rare in the pediatric population, particularly among prepubescent children, and its diagnosis and management necessitate a multidisciplinary approach. The objective of this present report is to delineate the diagnostic pathway and therapeutic management of a 4-year-old girl with conventional melanoma, with particular focus on the molecular context. A pigmented lesion located on the auricle was surgically excised, and subsequent histopathological and immunohistochemical analyses confirmed the diagnosis of malignant melanoma (pT3b).

MTHFR Gene Polymorphisms: A Single Gene with Wide-Ranging Clinical Implications-A Review.

The enzyme 5,10-methylenetetrahydrofolate reductase (MTHFR) catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a process essential for the methylation of homocysteine to methionine. Polymorphisms in the MTHFR gene can reduce enzyme activity, disrupting the folate cycle and leading to hyperhomocysteinemia. The two most common polymorphisms associated with this gene are 667C>T (rs1801133) and 1298A>C (rs1801131).

Benign and malignant breast lesions in children and adolescents - diagnostic and therapeutic approach.

Benign and malignant breast lesions in children and adolescents are rare compared to adults. Most tumors are benign. Malignant breast lesions are extremely rare.

The Prevalence of Cancer Predisposition Syndromes (CPSs) in Children with a Neoplasm: A Cohort Study in a Central and Eastern European Population.

Importance: The etiology of pediatric cancers is often unclear; however, advancements in genetics have identified significant roles for genetic disorders in their development. Over time, the number of cancer predisposition syndromes (CPSs) and awareness of them have increased, providing the possibility of cancer prevention and early detection.

Purpose: In this study, we present data concerning the number and type of oncological cases and their correlation with CPS occurrence in a cohort of Central and Eastern European pediatric patients.

Comprehensive analysis of constitutional mismatch repair deficiency-associated non-Hodgkin lymphomas in a global cohort.

Background: Constitutional mismatch repair deficiency syndrome (CMMRD) is a rare childhood cancer predisposition syndrome associated with a broad spectrum of malignancies, including non-Hodgkin lymphomas (NHL). Most patients die due to cancer before the age of 20 years. Limited data exist on CMMRD-associated lymphomas and their outcome.

Totally implantable venous ports in infants and children: a single-center retrospective study of indications and safety.

Introduction: Totally Implantable Venous Access Devices (TIVADs) contribute significantly to the treatment progress and comfort of patients requiring long-term therapy. However, the procedure for implanting TIVADs, as well as its very presence, may be associated with complications.

Aim: This study evaluates the indications, safety, and complication rates of venous port implantations in pediatric patients.

Therapeutic Management and Outcomes of Hepatoblastoma in a Pediatric Patient with Mosaic Edwards Syndrome.

The mosaic form of Edwards syndrome affects 5% of all children with Edwards syndrome. The clinical phenotype is highly variable, ranging from the full spectrum of trisomy 18 to the normal phenotype. The purpose of this publication was to present the therapeutic process in an 18-month-old girl with the mosaic form of Edwards syndrome and hepatoblastoma, against the background of other cases of simultaneous occurrence of this syndrome and hepatoblastoma described so far.

Testicular and scrotal abnormalities in pediatric and adult patients.

Testicular and scrotal abnormalities can occur in children, adolescents, and adults. The lesions, often accompanied by pain and swelling/enlargement of the scrotum, can cause anxiety in patients and their parents. Regardless of age, proper diagnosis is based on adequate anamnesis and physical examination.

Thyroid diseases in children and adolescents requiring surgical treatment-indications, techniques, results, and complications based on 10 years of the single center's own experience.

Introduction: Although thyroid abnormalities are observed less frequently in children than in adults, the increased incidence of thyroid cancer makes it mandatory for all pediatric surgeons to be knowledgeable about the disorders of this gland. Thyroid abnormalities can be associated with hyperthyroidism or hypothyroidism and euthyroidism and/or symmetric or asymmetric enlargement of the gland.

Aim: The present study was undertaken to retrospectively analyze the indications, surgical techniques used, results obtained, and complications found in the surgical treatment of thyroid diseases in children and adolescents in a surgical center for the macro-region of western Poland.

Simultaneous Occurrence of Multiple Neoplasms in Children with Cancer Predisposition Syndromes: Collaborating with Abnormal Genes.

The identification of cancer predisposition syndromes (CPSs) plays a crucial role in understanding the etiology of pediatric cancers. CPSs are genetic mutations that increase the risk of developing cancer at an earlier age compared to the risk for the general population. This article aims to provide a comprehensive analysis of three unique cases involving pediatric patients with CPS who were diagnosed with multiple simultaneous or metachronous cancers.

Hypoxia-Inducible Pathway Polymorphisms and Their Role in the Complications of Prematurity.

Excessive oxidative stress resulting from hyperoxia or hypoxia is a recognized risk factor for diseases of prematurity. However, the role of the hypoxia-related pathway in the development of these diseases has not been well studied. Therefore, this study aimed to investigate the association between four functional single nucleotide polymorphisms (SNPs) in the hypoxia-related pathway, and the development of complications of prematurity in relation to perinatal hypoxia.

rs3877899 Variant Affects the Risk of Developing Advanced Stages of Retinopathy of Prematurity (ROP).

The significance of selenoproteins for the incidence of prematurity and oxidative-damage-related diseases in premature newborns is poorly understood. The latter are at risk for ROP as well as BPD, IVH, PDA, RDS, and NEC, which is particularly high for newborns with extremely low gestational age (ELGA) and extremely low birth weight (ELBW). This study evaluates the hypothesis that variation in the selenoprotein-encoding genes , , and affects the risk of ROP and other comorbidities.

Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.

Background & Aims: Constitutional mismatch repair deficiency (CMMRD) is a rare recessive childhood cancer predisposition syndrome caused by germline mismatch repair variants. Constitutional microsatellite instability (cMSI) is a CMMRD diagnostic hallmark and may associate with cancer risk. We quantified cMSI in a large CMMRD patient cohort to explore genotype-phenotype correlations using novel MSI markers selected for instability in blood.

High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency.

Background: Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessively inherited syndrome that is caused by biallelic pathogenic variants of the mismatch repair genes. It is characterised by the development of multiple tumours in the first and second decade of life including brain, gastrointestinal and haematological tumours often resulting in early death. In order to improve the prognosis of these patients, the European collaborative group 'care for CMMRD' developed a surveillance programme in 2014 and established a registry of patients with CMMRD in Paris.

Applications of the Grading Scales for the Detection of Ototoxicity in Children after Treatment of Neuroblastoma and Extracranial Germinal Tumor.

Introduction: Advances in treatment have resulted in a significant increase in survival rates for patients cured of malignant diseases such as neuroblastoma (NBL) and extracranial germ cell tumor (GCT). NBL is one of the pediatric cancers during which potentially ototoxic cytostatic drugs (cisplatin and carboplatin) are used for treatment. Other cancers include germinal tumors, hepatoblastoma, sarcomas, and brain tumors.

Clinical characteristics of children with MIS-C fulfilling classification criteria for macrophage activation syndrome.

Background: Macrophage activation syndrome (MAS) is a potentially life-threatening complication of various inflammatory disorders, including multisystem inflammatory syndrome in children (MIS-C). MIS-C refractory to treatment should raise suspicion of MAS, which can be fatal if a definitive diagnosis is delayed. Unfortunately, there is a lack of data on MAS in children with MIS-C.

Are There Any Limiting Factors of Minimally Invasive Adrenalectomy in Children? Over 20-Year Single-Center Experience.

<b> Introduction:</b> Laparoscopic adrenalectomy is more widely recognized as a valuable treatment method for benign and malignant tumours. </br></br> <b>Aim:</b> This study reviews over 20-year experience with laparoscopic adrenalectomy in children in Central-West Poland. </br></br> <b>Materials and methods:</b> During the last 21 years, 5041 laparoscopic procedures were performed, among them 39 adrenalectomies in children aged from 2 days to 17 years.

To vaccinate or not to vaccinate - BNT162b2 seroconversion rate and side effects among Polish healthcare workers.

Objectives: The study aimed to analyze the effect of BNT162b2 vaccination among Polish healthcare workers in terms of serologic response and adverse events.

Material And Methods: A questionnaire survey covered data in the period January 1-March 31, 2021 gathered in 2 hospitals in Wielkopolska, Poland. Additionally, serological analysis (SARS-CoV-2 anti-S protein IgG) was performed.

Why Is Health Care for Children with Down Syndrome So Crucial from the First Days of Life? A Retrospective Cohort Study Emphasized Transient Abnormal Myelopoiesis (TAM) Syndrome at Three Centers.

Down syndrome (DS) is a common genetic disorder and is associated with an increased likelihood of many diseases, including defects of the heart, genitourinary system, gastrointestinal tract, and oncological diseases. The aim of this study was to analyze medical problems occurring in newborns with DS and to create a basic diagnostic and therapeutic algorithm intended primarily for neonatologists, pediatricians, family physicians, and physicians of other specialties caring for children with DS. Over a 5-year period, the medical records of 161 neonates with Down syndrome from four neonatology departments in Poznan, Poland, were examined.

The Surgical Procedure in the Case of Ovarian Lesion in Neonate.

Background: In newborns and infants, ovarian lesions can be detected during ultrasound examination before or after birth. Malignant ovarian lesions account for <1% of malignancies in newborns. However, in case of doubt about the nature of the lesion, surgery with tissue collection for histopathologic evaluation should be considered with the absolute condition of fertility preservation.

How to Treat a Child With a Concurrent Diagnosis of Leukemia and Generalized Mucormycosis? Case Report.

Mucormycosis is a rare but a devastating and lifethreatening fungal infection caused by fungi of the order Mucorales usually in immunocompromised patients. Depending on the organs and tissues involved, there are sinus, pulmonary, gastrointestinal, orbital, cerebral, cutaneous and disseminated mucormycosis. Only sporadic cases of hepatic mucormycosis have been described.