Xp22.33p22.13 Duplication in a Male Patient Carrying a Recombinant X Chromosome Derived from an Inherited Intrachromosomal Insertion.

Intrachromosomal insertions are complex structural rearrangements that are challenging to interpret using classical cytogenetic methods. We report a male patient carrying a recombinant X chromosome derived from a maternally inherited intrachromosomal insertion. The patient exhibited developmental delay, intellectual disability, behavioral disorder, and dysmorphic facial features. To accurately identify the rearrangements in the abnormal X chromosome, additional cytogenetic studies were conducted, including fluorescence in situ hybridization (FISH), multicolor-banding FISH, and array comparative genomic hybridization. The results showed a recombinant X chromosome, resulting in a 13.05 Mb interstitial duplication of segment Xp22.33-Xp22.13, which was inserted at cytoband Xq26.1. The duplicated region encompasses 99 genes, some of which are associated with the patient's clinical manifestations. We propose that the combined effects of the Xp-duplicated genes may contribute to the patient's phenotype.

Photobiomodulation therapy in the treatment of radiotherapy-related trismus of the head and neck.

This study evaluated photobiomodulation therapy (PBMT) for treatment of trismus in patients undergoing radiotherapy for head and neck cancer (HNC). Sixteen patients, 10 men and 6 women, who had a mouth opening < 35 mm and underwent RT were included. The patients were evaluated daily before and after the PBMT application, measuring mouth opening and performing pain scores for the masticatory muscles using the visual analog scale (VAS). We used the infrared laser (~ 808 nm) extraorally, 0.1 W power, 3 J energy, 30 s (107 J/cm2) per point, applied to temporalis anterior, masseter muscles, and temporomandibular joints (TMJ). An intraoral point was made in the trigonoretromolar region towards the medial pterygoid muscle. The mean mouth opening of the patients increased by more than 7 mm throughout the treatment. The pain scores on the initial days showed an immediate reduction after PBMT on the ipsilateral side in the muscles and TMJ. Throughout PBMT applications, there was a significant reduction in pain scores in all muscles and the TMJ. The radiation dose of all patients was above 40 Gy, which is the threshold dose for the risk of developing trismus. SPSS software was used and adopted a confidence of 95%. The Kolmogorov-Smirnov normality test, Wilcoxon test, and Spearman correlation were performed. PBMT controls muscular pain and reduced mouth opening limitation in HNC during radiotherapy. Further studies are needed to evaluate the preventive capacity of PBMT protocols for RT trismus-related HNC.

How does genetic testing influence anxiety, depression, and quality of life? A hereditary breast and ovarian cancer syndrome suspects trial.

BACKGROUND: Emotional distress associated with genetic testing for hereditary breast and ovarian cancer syndrome (HBOC) is reported to interfere with adherence to treatment and prophylactic measures and compromise quality of life. OBJECTIVES: To determine levels of anxiety, depression, and quality of life in patients tested for pathogenic BRCA1/2 mutations and identify risk factors for the development of adverse psycho-emotional effects. METHODS: Cross-sectional observational trial involving 178 breast or ovarian cancer patients from a referral cancer hospital in Northeastern Brazil. Information was collected with the Hospital Anxiety and Depression Scale (HADS) and the World Health Organization (WHO) Quality of Life (QoL) questionnaire (WHOQOL-BREF). RESULTS: Patients suspected of HBOC had higher levels of anxiety than depression. The presence of (probably) pathogenic BRCA1/2 mutations did not affect levels of anxiety and depression. High schooling, history of psychiatric disease, and use of psychotropic drugs were directly associated with high anxiety. High schooling was too inversely associated with QoL as such a breast tumor. Anxiety and depression were directly correlated and both reduced significantly QoL. CONCLUSION: Our results highlight the importance of psychological support and screening of risk factors for anxiety and depression and low QoL in HBOC patients at the time of testing.

How to structure an oncogenetics service for the public health system: Report of the implementation of the first service in Northeastern Brazil.

INTRODUCTION: Identifying carriers of genetic mutations that increase the risk of developing cancer allows to adopt timely risk-reducing strategies. However, due to the elevated cost of genetic testing, few oncogenetics services are available in the Brazilian public health care system, especially in economically disadvantaged areas. OBJECTIVE: To describe the implementation of an oncogenetics service for patients suspected of hereditary cancer syndromes (HBOC and HNPCC) at a philanthropic referral oncology hospital in Northeastern Brazil, funded by the Ministry of Health's National Oncology Care Support Program (PRONON). METHODS: The service was implemented with the PDCA method (Plan, Do, Check and Act). RESULTS: During the first year of operation (starting in August 2018), 675 individuals were examined, of whom 272 patients and 98 family members were submitted to genetic testing. This included the collection of 338 DNA samples of which 300 were sequenced. The analysis identified 48 (17.1%) mutations for HBOC and 19 (6.8%) for HNPCC. CONCLUSION: In one year, the oncogenetics service was able to benefit over 300 families by generating advanced molecular data which may be used for tailoring cancer prevention and management.