Seminoma in 46, XY Gonadal Dysgenesis: Rare Presentation and Review of the Literature.

Swyer syndrome is a rare congenital condition that serves as a risk factor for developing germ cell tumors. The condition belongs to the group of 46, XY disorders of sexual development, is characterized by complete gonadal dysgenesis (CGD) and is mostly manifested as delayed puberty and primary amenorrhea during adolescence. Individuals with Swyer syndrome are known to be phenotypically female with normal internal and external female genitalia at birth.

Beyond the physical risk: Psychosocial impact and coping in healthcare professionals during the COVID-19 pandemic.

Aims And Objectives: This study aimed to examine the psychosocial impact and identify risk factors for poor psychosocial outcomes in healthcare professionals during the Coronavirus disease 2019 (COVID-19) pandemic in Cyprus.

Background: Healthcare professionals are in the forefront of the COVID-19 pandemic facing an unprecedented global health crisis, which can have consequences on their psychosocial health. There is a need to identify risk factors for poor psychosocial outcomes to inform the design of tailored psychological interventions.

Novel Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms.

Oculodentodigital dysplasia syndrome is associated with numerous pathogenic variants in , the gene encoding connexin43 gap junction protein. A novel in-frame deletion (p.Lys134del) was found in our clinic.

Purpuric rash in an adolescent with fever, pancytopenia, and an hemophagocytic lymphohistiocytosis-like syndrome due to parvovirus B19.

A rare case of parvovirus B19 infection associated with fever, hemorrhagic rash, and a clinical course resembling an incomplete HLH syndrome is presented. Parvovirus B19 should be included in the evaluation of febrile purpura and HLH-like syndrome.

Effect of HBB genotype on survival in a cohort of transfusion-dependent thalassemia patients in Cyprus.

Initiation of regular transfusion in transfusion-dependent thalassemia (TDT) is based on the assessment of clinical phenotype. Pathogenic HBB variants causing β-thalassemia are important determinants of phenotype and could be used to aid decision making. We investigated the association of HBB genotype with survival in a cohort study in the four thalassemia centres in Cyprus.

Tolosa-Hunt Syndrome: Clinical Manifestations in Children.

Background: Tolosa-Hunt syndrome (THS) is a rare condition in children characterized by painful ophthalmoplegia caused by inflammation of unknown etiology in the cavernous sinus, superior orbital fissure, or orbital apex. Our main purpose was to report two pediatric cases of THS, a typical one and another extremely rare one preceded by facial palsy.

Methods: Both cases were diagnosed with THS based on the 2013 International Classification of Headache Disorders (ICHD-3 beta) criteria.

Toxoplasmosis in female high school students, pregnant women and ruminants in Cyprus.

Background: The protozoan parasite Toxoplasma gondii is important to human and animal health worldwide. This is the first study of prevalence of infection with T. gondii and associated risk factors in human populations and small ruminants in Cyprus.

Prevalence of RhD status and clinical application of non-invasive prenatal determination of fetal RHD in maternal plasma: a 5 year experience in Cyprus.

Background: After the discovery that cell-free fetal DNA (cffDNA) is circulating in the maternal plasma of pregnant women, non-invasive prenatal diagnosis for fetal RhD in maternal plasma in RhD negative women at risk for haemolytic disease of the newborn (HDN) was clinically established and used by many laboratories. The objectives of this study are: (a) to assess the feasibility and report our experiences of the routine implementation of fetal RHD genotyping by analysis of cffDNA extracted from maternal plasma of RhD negative women at risk of HDN, and (b) to estimate the RhD phenotype frequencies, the RHD genotype frequencies and the RhD zygosity in the Cypriot population.

Methods: cffDNA was extracted from maternal plasma of 73 RhD negative pregnant women.

Pseudotumor Cerebri in a Child with Idiopathic Growth Hormone Insufficiency Two Months after Initiation of Recombinant Human Growth Hormone Treatment.

Purpose. To report a rare case of pseudotumor cerebri (PTC) in a child two months after receiving treatment with recombinant human growth hormone (rhGH) and to emphasize the need of close collaboration between ophthalmologists and pediatric endocrinologists in monitoring children receiving rhGH. Methods.

Sedation and analgesia practices in neonatal intensive care units (EUROPAIN): results from a prospective cohort study.

Background: Neonates who are in pain or are stressed during care in the intensive care unit (ICU) are often given sedation or analgesia. We investigated the current use of sedation or analgesia in neonatal ICUs (NICUs) in European countries.

Methods: EUROPAIN (EUROpean Pain Audit In Neonates) was a prospective cohort study of the management of sedation and analgesia in patients in NICUs.

Genetic findings of Cypriot spinal muscular atrophy patients.

Spinal muscular atrophy (SMA) is an autosomal recessive, neurodegenerative disorder characterised commonly by proximal muscle weakness and wasting in the absence of sensory signs. Deletion or disruption of the SMN1 gene causes the disease. The SMN1 gene is located within an inverted duplication on chromosome 5q13 with the genes SMN2, NAIP and GTF2H2.

Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities.

MicroRNA haploinsufficiency has been associated with developmental defects in only a limited number of cases. Here we report a de novo genomic microdeletion that includes the LINGO2 gene as well as two microRNA genes, MIR873 and MIR876, in a patient with craniofacial abnormalities - in particular macrocephaly and hypertelorism - and learning difficulties. Subsequent analysis revealed that the microRNAs affected by this de novo microdeletion form a mammalian-lineage, neuronal tissue-enriched cluster.

Molecular epidemiology of rhinoviruses in Cyprus over three consecutive seasons.

Human rhinoviruses (HRVs) are widespread respiratory pathogens and a major cause of acute respiratory tract infections. The aim of this study was to investigate the molecular epidemiology of rhinovirus infections in children in Cyprus over three consecutive winter seasons. From a total of 116 rhinovirus-positive samples, 68 were sequenced in the 5'-UTR and VP4/VP2 regions.

A cluster of four cases of cutaneous leishmaniasis by Leishmania donovani in Cyprus: a case series.

Introduction: Leishmaniasis is endemic in more than 95 countries and is the only tropical/subtropical vector-borne disease that has been endemic in Southern Europe for decades. To the best of our knowledge, this is the first case of cutaneous leishmaniasis by Leishmania donovani in a child and the first cluster with adult cases reported in Europe.

Case Presentation: We describe a familial cluster of four cutaneous leishmaniasis cases among Greek Cypriots caused by L.

Theoretical knowledge and skill retention 4 months after a European Paediatric Life Support course.

Objective: The European Paediatric Life Support (EPLS) provider course aims at training doctors and nurses in the efficient and prompt management of cardiopulmonary arrest in children. EPLS is a 2-day European Resuscitation Council course, involving the teaching of theoretical knowledge and practical skills. The aim of the study was to evaluate the retention of theoretical knowledge and certain skills of EPLS providers 4 months after the course.

Osteoporosis in thalassemia major: an update and the I-CET 2013 recommendations for surveillance and treatment.

In recent years, the issue of osteopenia/osteoporosis in children, adolescents and young adults with thalassaemia major (TM) has attracted much attention because it is a prominent cause of morbidity despite adequate transfusion and iron chelation therapy. The reported frequency of osteoporosis, even in well treated TM patients varies from 13.6% to 50% with an additional 45% affected by osteopenia.

Epidemiology of respiratory syncytial virus in children in Cyprus during three consecutive winter seasons (2010-2013): age distribution, seasonality and association between prevalent genotypes and disease severity.

This study reports the epidemiology of respiratory syncytial virus (RSV) in hospitalized children in Cyprus over three successive seasons (2010-2013) and the association between prevalent genotypes and disease severity. RSV infections had a circulation pattern from December to March. Most RSV-positive children (83%) were aged <2 years.

Acute hepatitis and myositis associated with Erythema infectiosum by Parvovirus B19 in an adolescent.

Background: Erythema infectiosum is the most common clinical manifestation of Parvovirus B19 infection although it has also been associated with rheumatologic diseases and various types of systemic vasculitides. Acute hepatitis and benign myositis however are rarely reported in association with Parvovirus B19 infection.

Case Presentation: Here we report a 14-year old male, who developed acute hepatitis and benign myositis associated with erythema infectiosum following Parvovirus B19 infection.

Growth hormone deficiency in adults with thalassemia: an overview and the I-CET recommendations.

This review paper provides a summary of the current state of knowledge regarding GHD provides recommendations for the diagnosis and treatment of GHD in adult patients with thalassaemia major (TM). The reported prevalence of adult GHD and /or IGF-I deficiency in TM patients varies from 8% to 44 % in different centers. Because GH treatment requires analysis of many factors, including the effect of treatment on cardiac functions, metabolic parameters and psychosocial functioning, along with safety, ethical considerations, financial cost and other burdens of therapy, stringent diagnostic criteria are needed.

Epidemiology of type 1 diabetes mellitus in Cyprus: rising incidence at the dawn of the 21st century.

Objective: The incidence of Type 1 diabetes mellitus (T1DM) in Greek-Cypriot children aged less than 15 years between 1990 and 2009 was examined along with gender differences concerning the age of onset and the seasonal variation at manifestation of the disease.

Design: All newly diagnosed cases of T1DM in children less than 15 years old were registered with the capture-recapture method from 1990 until 2009.

Results: The overall mean annual incidence during these 20 years is 12.

Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A>G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea.

Background: The clinical spectrum of 5α-reductase deficiency, caused by mutations in the SRD5A2 gene, ranges from complete female appearance of the external genitalia at birth to nearly complete male phenotype.

Case Report: A 14-year-old girl presented with primary amenorrhea (PA) and lack of breast development. She was 173 cm in height, had an increased amount of pubic hair and clitoromegaly (3 cm), with a 4 cm blind vaginal pouch.

Bone disease in thalassaemia major: recent advances in pathogenesis and clinical aspects.

Bone is a dynamic organ, constantly changing metabolically and being remodelled through the balanced activity of osteoclast and osteoblast on trabecular surfaces. Osteoporosis represents a continuum, in which multiple pathogenic mechanisms converge to cause loss of bone mass and deterioration of microarchitecture of skeletal structure. In thalassaemia major (TM), progressive 'aging' of bone starts in early childhood, through the gradual development of an imbalance between augmented osteoclastic resorption and insufficient osteoblastic bone formation.