Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion

Background: Blepharophimosis is a fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. It is a rare facial malformation and is considered an important diagnostic feature in dysmorphic analysis. It is likely that many patients with blepharophimosis-mental retardation syndrome have submicroscopic chromosomal rearrangements, and the use of molecular karyotyping can narrow the known blepharophimosis-mental retardation–critical regions or clarify the effect of the haploinsufficiency of the involved genes on the phenotype.

Materials and methods: A female patient presented with bilateral blepharophimosis, ptosis, epicanthus inversus, telecanthus, low-set and small ears, other minor anomalies, hypotonia and psychomotor developmental delay. Metabolic investigations and array CGH analysis were performed. The results of molecular karyotyping were confirmed by real-time PCR analysis.

Results: Molecular karyotyping revealed a 5.2 Mb deletion in the 10q22.1q22.3 region. Real-time PCR analysis of the proband and her parents confirmed the deletion in the proband and revealed its de novo origin.

Conclusions: With ptosis, hypotonia, and developmental delay as the main diagnostic features of our patient, the effect of histone acetyltransferase-encoding KAT6B gene haploinsufficiency was suspected to have a significant role in determining the phenotype. Detailed clinical characterization of the patient provided additional information on the clinical manifestation of the 10q22 deletion.     

Moving Beyond “Health Education”: Participatory Filmmaking for Cross-Cultural Health Communication

In the process of developing short films with women in Australian Aboriginal (Yol?u) communities in northeast Arnhem Land, questions arose about how the content and the process of production were defined and adjusted to suit both parties. This research examines how filmmakers take roles as health educators and how Yol?u women as the “actors” define and direct the film. It explores ways that the filmmakers tried to ensure that Yol?u identity was maintained in a biomedical agenda through the use of storytelling in language. An important dialogue develops regarding ownership and negotiation of health information and knowledge, addressing this intersection in a way that truly characterizes the spirit of community-based participatory research. Although the filmmaking processes were initially analyzed in the context of feminist and educational empowerment theories, we conclude that Latour’s (2005) theory of actor networks leads to a more coherent way to explore participatory filmmaking as a health education tool. The analysis in this work provides a framework to integrate health communication, Indigenous women’s issues, and filmmaking practices. In contrasting participatory filmmaking with health promotion and ethnographic film, the importance of negotiating the agenda is revealed.     

Malignancies after kidney transplantation: 3 clinical case reports

Post-transplant malignancies present an aggressive course and are a significant cause of morbidity and mortality. Tumours of viral ethiology have the greatest risk in renal transplant recipients. Oncogenic effect of immunosuppressive therapy is another major risk factor of post-transplant malignancy. We report cases of three different types of malignancies developed after kidney transplantation: non-Hodgkin’s lymphoma, Kaposi’s sarcoma and germ cell testicular cancer (nonseminoma).     

Contemporary scope of inborn errors of metabolism involving epilepsy or seizures

Many inborn errors of metabolism may present with epilepsy or seizures, however, current scope of these diseases is unknown. Due to available precision medicine approaches in many inborn errors of metabolism and sophisticated traditional diagnostics, this group of disorders is of special relevance to clinicians. Besides, as current treatment is challenging and unsuccessful in more than 30% of all epilepsy patients, these diseases may provide valuable models for ictogenesis and epileptogenesis studies and potentially pave the ways to identification of novel treatments. The aim of this study was to elucidate genetic architecture of inborn errors of metabolism involving epilepsy or seizures and to evaluate their diagnostic approaches. After extensive search, 880 human genes were identified with a considerable part, 373 genes (42%), associated with inborn errors of metabolism. The most numerous group comprised disorders of energy metabolism (115, 31% of all inborn errors of metabolism). A substantial number of these diseases (26%, 97/373) have established specific treatments, therefore timely diagnosis comes as an obligation. Highly heterogenous, overlapping and non-specific phenotypes in most of inborn errors of metabolism presenting with epilepsy or seizures usually preclude phenotype-driven diagnostics. Besides, as traditional diagnostics involves a range of specialized metabolic tests with low diagnostic yields and is generally inefficient and lengthy, next-generation sequencing-based methods were proposed as a cost-efficient one-step way to shorten “diagnostic odyssey”. Extensive list of 373 epilepsy- or seizures-associated inborn errors of metabolism genes may be of value in development of gene panels and as a tool for variants’ filtration.     

Follow-up of children’s oral health-related quality of life after dental general anaesthesia treatment

Objective: Our aim was to analyze longitudinally the impact of young children’s dental general anaesthesia (DGA) treatment on their OHRQoL and to determine their post-operative oral health status at the six-month follow-up together with parental ratings of their children’s oral health.

Material and methods: We conducted a prospective follow-up study of OHRQoL among Lithuanian child patients treated under general anaesthesia (n?=?144). The study consisted of clinical dental examinations performed by two examiners at the time of DGA and at the six-month recall, along with OHRQoL surveys and data collected from the patients’ files. The dmft index and Silness–Löe plaque index served as clinical measures. The survey tool for assessing the children’s OHRQoL was the previously tested Lithuanian version of the ECOHIS. The Wilcoxon signed-rank test served for the statistical analysis (p?Results: The ECOHIS scores clearly decreased post-operatively, indicating a significant (p?p?Conclusions: This longitudinal study showed a sustained improvement in the children’s OHRQoL six months after their DGA treatment. Post-operative parental ratings of their child’s oral health were higher after the DGA treatment, but the children exhibited insufficient oral hygiene and new caries lesions. An appropriate follow-up system for children receiving DGA treatment with special focus on preventive care is needed.     

Sleep and Behavioral Problems in Rolandic Epilepsy

Although patients with benign childhood epilepsy with centrotemporal spikes exhibit a benign course of the disease, some of them display sleep and behavioral problems. Sixty-one patients with rolandic epilepsy, aged 6-11 years, were included in this study. The patients were divided into two subgroups according to the presence of seizures over the preceding 6 months. The control group comprised 25 patients without epilepsy and with similar characteristics in terms of age and sex. All patients underwent evaluation of sleep (Sleep Disturbance Scale for Children) and behavior (Lithuanian version of the Child Behaviour Checklist). Only patients who had had seizures over the preceding 6 months displayed significantly higher scores for sleep problems (disorders of excessive daytime sleepiness, disorders of sleep-wake transition, and scores for total sleep problems), worse sleep quality (longer sleep-onset latency), and behavioral problems (anxiety/depression, social problems, thought problems, attention problems, and aggressive behavior) than the patients of the control group. Our data add to evidence that active epilepsy has an impact on sleep and behavior. Clinically significant sleep problems were related to the higher risk of behavioral problems. Parents' ratings for existing sleep problems were sensitive to Sleep Disturbance Scale for Children scores above normal values.     

Human papillomavirus infection in pregnant women

Introduction  

Human papillomavirus (HPV) is the most common sexually transmitted infection in the world. It has been established that about 70% of the sexually active population are exposed to this infection. The HPV prevalence rate among pregnant women ranges from 5.5 to 65.0%. Studies on HPV infection in pregnant women have yielded inconsistent results, including HPV prevalence, and HPV clearance.