PURPOSE: Variants in the GNB1 gene, which encodes for the beta-1 subunit of G proteins, have been associated with intellectual development disorder (OMIM: 616973), characterized by developmental delay, infantile hypotonia, seizures, and psychiatric problems. GNB1 variants may also cause a multisystem disorder, with symptoms such as hearing and vision impairment, gastrointestinal disorders, genitourinary abnormalities, and growth delay. CASE PRESENTATIONS: We present two pediatric patients with two novel GNB1 variants. The first patient is a 12-year old Caucasian European female with a history of neonatal hypotonia, feeding difficulties, and failure to thrive for the first 2 years of life. Subsequently, she developed grade 3 obesity, hyperphagia, and autoimmune thyroiditis. Whole Exome Sequencing (WES) revealed a novel likely pathogenic variant in the GNB1 gene (NM{\_}002074.5:c.93{\_}94del, p.Gln32AspfsTer46), which is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. The second patient is a 2-year old Roma female with severe failure to thrive during infancy, congenital hypothyroidism, and transient hyperoxaluria. No developmental delay was identified. Genetic testing excluded primary hyperoxaluria and WES revealed to be a novel likely pathogenic variant {\{}NM{\_}002074.5:c.183G {\textgreater} T (NP{\_}002065.1:p.Met61Ile), which is predicted to have a damaging effect on the gene or gene product. CONCLUSION: We present two rare pediatric cases with novel GNB1 variants which highlight the phenotypic variability associated with disrupted GNB1 expression. GNB1 may serve as a candidate gene for severe early onset obesity, hyperphagia, neurodevelopmental delay, and other metabolic and endocrine disorders.}

Central precocious puberty (CPP) is a condition where the hypothalamus-pituitary-gonadal axis is activated earlier than normal, leading to premature development of secondary sexual characteristics before eight years of age in girls and nine years of age in boys. The purpose of this study was to critically and systematically evaluate the literature regarding CPP rise during the COVID-19 pandemic. We searched PubMed and Google Scholar for relevant articles using the following MeSH terms: "COVID-19, "precocious puberty," "early puberty," "pediatric endocrinology," and "pandemic effects." We included studies calculating the risk of CPP before and during the COVID-19 pandemic. We excluded studies looking at patients with an identifiable cause for CPP or with peripheral precocious puberty. The primary outcome was the prevalence of central precocious puberty during the pandemic compared to the pre-pandemic period. We analyzed data regarding anthropometric, biochemical, and pelvic ultrasound data between the two groups. Overall, 16 studies with 2.175 subjects were included, of which 1.818 were diagnosed with CPP. There was a rise in the number of new diagnoses of CPP during the COVID-19 pandemic (985 subjects) compared with the pre-pandemic period (833 subjects). The mean age of diagnosis in the first group was 7.42 years versus 7.54 years in the second group. Notably, CPP during the pandemic was associated with a higher body mass index (BMI) compared with the group of the pre-pandemic period (17.50 versus 17.08). The pandemic and lockdowns led to changes in lifestyle habits, social isolation, sleep disturbance, excess screen time, and increased stress levels. We hypothesize that these alterations influenced the increase in CPP frequency.

OBJECTIVE: Nutritional guidelines for postmenopausal women differ. This study aimed to assess postmenopausal women's knowledge, beliefs, and practices regarding nutrition during menopause and their dietary habits. METHODS: This cross-sectional study was conducted in a menopause clinic, and data from 105 women were analyzed. A nutrition knowledge, attitudes, and perceptions (KAP) questionnaire was designed, structured, and piloted before implementation, based on the Hellenic dietary guidelines. International Physical Activity Questionnaire-Greek version, MedDietScore, and Menopause-specific Quality of Life questionnaires were administered. RESULTS: The mean ± SD age of the women was 56.9 ± 4.6 years. The mean ± SD KAP score was 12.2 ± 3.5. Those who lived in rural areas had lower KAP scores than those who lived in urban areas ( P = 0.004). Of all the women, 74.5{%} knew the Mediterranean diet pyramid, whereas 9.8{%} knew the Hellenic dietary guidelines. Women who had read the guidelines showed better knowledge of Mediterranean diet food groups (Pearson, 0.309; P = 0.039). Knowledge of dairy services was correlated with consumption of dairy products ( P = 0.002). Furthermore, 76.4{%} were willing to participate in nutrition education programs. The International Physical Activity Questionnaire score was positively correlated with years of smoking ( P = 0.002). Physical activity correlated with adherence to the Mediterranean diet ( P = 0.044). CONCLUSIONS: The majority of postmenopausal Greek women in this study were unaware of the Hellenic dietary guidelines. In general, women's knowledge of nutrition during menopause was moderate. Greek postmenopausal women are willing to participate in nutrition education programs, which should raise awareness of healthy lifestyles through nutrition, exercise, and smoking cessation.

INTRODUCTION: Tanzania has a high adolescent birth rate and many sexually active adolescents do not have access to effective contraception. Teenage pregnancy is considered a high-risk pregnancy. Furthermore, it leads to social inequalities for both mother and offspring. METHODS: We conducted semistructured interviews with 12 adolescent mothers during their stay in the postnatal ward of the maternity department of a tertiary hospital in Zanzibar. The study took place between November and December 2022. Data were then analyzed qualitatively. RESULTS: The main theme that emerged from the interview data was that pregnancy seemed to affect the lives of young girls in a negative way. The majority of pregnancies were unplanned, and the girls reported low family planning uptake. Another recurring theme was that girls had many οbstacles in their education prior to pregnancy, which left them uncertain about their future. Finally, despite the advice of local doctors, the majority of the girls received minimal prenatal care, mostly because they did not regard obstetric care to be a priority. CONCLUSIONS: Adolescent pregnancy remains an important public health issue in Tanzania, despite significant measures by authorities to reduce it. Educational changes and professional opportunities as well as family planning services may enable young girls to achieve professional and personal goals while delaying motherhood into adulthood.

OBJECTIVES: An increasing number of women living with HIV are transitioning through midlife and menopause. Women living with HIV may experience earlier menopause and a higher symptom burden than women without HIV, but more evidence is needed. Data collection on menopause in women living with HIV is scarce and often not standardized. We sought to assess how menopause data are collected in cohorts and studies of women living with HIV. METHODS: This was a literature review conducted within the PubMed database. We included original studies and cohorts assessing menopause and/or menopausal symptoms in women living with HIV. Study characteristics and menopause data collection, including the definition of menopause, symptom assessment tools, and measurement of biomedical parameters, were noted and summarized systematically in data tables. RESULTS: We included 40 articles describing 37 separate studies published between 2000 and 2023; 27 of these were conducted in high-income countries, the majority in the USA (n = 16). Ten studies were from low- and middle-income countries; four of these were conducted in Brazil. In 20 studies, menopause was defined according to the World Health Organization's definition of over 12 months of amenorrhea. Twelve studies used the Menopause Rating Scale to characterize menopausal symptoms, five studies used other specified symptom assessment tools, and 12 studies used a study-specific tool. CONCLUSIONS: Menopause data collection in women living with HIV is heterogeneous. We propose that standardized tools should be used to enable comparisons between studies and countries, thereby improving the quality of research and clinical treatment. Further research into the validity of menopausal symptom scoring tools is warranted.