Factors Affecting Antiretroviral Therapy Adherence among HIV-Positive Pregnant Women in Greece: An Exploratory Study.

The human immunodeficiency virus (HIV) is a major public health problem globally. Each year, approximately 1.4 million women living with HIV get pregnant. This contemporary descriptive study investigates the degree of compliance of HIV-positive women-patients undergoing antiretroviral therapy (ART) during pregnancy. A sample of 200 treated HIV-positive pregnant women (mean age, 32.9 years; Greek nationality, 67.5%; poor educational level, 28.5%) was selected. The data collection occurred in three acquired immunodeficiency syndrome (AIDS) reference centers in Athens, Greece, from November 2019 to September 2021. Patients' median knowledge score was 50% (IQR: 38.9−61.1%), and their median attitude score was 4.2 (IQR: 3.6−4.4); 13.0% of participants did comply with ART treatment. Specifically, 7.0% of them failed to take their treatment twice when asked about their activities over the preceding 7 days, and 3.0% skipped it three times. Women of Greek nationality had significantly higher compliance with treatment (p < 0.001). Additionally, a higher compared to lower education level was significantly associated with greater compliance (p = 0.001), while women with a low level of social support had significantly lower compliance. Participants who had complied with ART had significantly higher knowledge and attitude scores (p = 0.027). Patient characteristics determine compliance with ART in HIV-positive pregnant women in Greece, while the availability and quality of health system services may modulate this relationship.

Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report.

In this report, a patient carrying a 650 kb deletion and a 759 kb duplication of chromosomal 21q22.3 region was described. Facial dysmorphic features, hypotonia, short stature, learning impairment, autism spectrum disorder, anxiety and depression were observed clinical characteristics. Mentioned copy number variants were the shortest in length reported so far. The current study hypothesized that the presence of a susceptibility locus for autism spectrum disorder associated with depression and anxiety may be located in a 200 kb region between the PCNT and PRMT2 genes. The current study aimed to provide insight into the human genome morbidity map of chromosome 21.

Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male.

Interstitial deletions of the long arm of chromosome 11 are rare, and they could be assumed as non-recurrent chromosomal rearrangements due to high variability of the size and the breakpoints of the deleted region. The exact region of the deletion was difficult to be determined before the use of molecular cytogenetic techniques such as array comparative genomic hybridization (aCGH). Here, a 13-year old boy with severe learning difficulties, mental retardation and mild heart defects is described. Conventional G-band karyotyping was performed and it is found that the patient is a carrier of a de novo interstitial deletion on the long arm of chromosome 11, involving 11q14 and 11q22 breakpoints. Further investigation, using aCGH, specified the deleted region to 11q14.2-11q22.1. There was a difficulty in correlating the genotype with the phenotype of the patient due to lack of similar cases in literature. More studies should be done in order to understand the genetic background that underlies the phenotypic differences observed in similar cases.