Case report of congenital neutropenia type 4 with glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency.

Congenital neutropenia syndromes encompass a group of genetic disorders characterized by persistent neutropenia and recurrent infections inherited in an autosomal recessive, dominant, or X-linked manner. These syndromes arise from mutations in various genes, and one of the significant genes involved is glucose-6-phosphatase catalytic subunit 3 (G6PC3), giving rise to a condition known as Dursun syndrome. As per existing knowledge, a total of 92 cases of Dursun syndrome have been reported globally, including eight cases from Saudi Arabia. Our study identified two additional cases exhibiting neutropenia since the early postnatal period and recurrent admissions due to infections. Additionally, these patients presented with oral ulcers, chronic diarrhea, and anomalies affecting the cardiac and genitourinary systems. The rising incidence of congenital neutropenia on a global scale necessitates heightened vigilance among clinicians to ensure thorough follow-up of patients with neutropenia. This proactive approach can lead to early detection and appropriate management of associated complications, ultimately improving patient outcomes.

Factors Associated with Mothers' Care of Their Newborns in Saudi Arabia.

BACKGROUND: Infant mortality rates are highest in the southern regions of Saudi Arabia, compared to other regions in the kingdom. OBJECTIVE: To measure demographic factors associated with mothers' levels of knowledge and practice of care for their newborns in Jazan region, south of Saudi Arabia. METHODS: This is a cross-sectional study conducted between November and December 2018 in Jazan region, Saudi Arabia, on the northern borders of Yemen. A questionnaire was utilised to measure mothers' level of knowledge and practice of newborn care. Data was collected via interviews, and a scoring system was developed to classify knowledge level and practice adequacy. Logistic regression was used to assess the presence of statistically significant associations between demographic factors and level of knowledge and practice adequacy. FINDINGS: A total of 450 mothers participated in the current investigation. A majority of participating mothers were able to give correct answers, where the mean level of knowledge was 11.85/16 [SD: 2.6]. Additionally, the mean score for practice adequacy was 7.11/10 [SD: 1.45]. However, 122 mothers (27%) reported using alternative treatments to treat their newborns instead of seeking professional health care from available health services. Additionally, 42 mothers (9.3%) reported not attending any antenatal visits during their pregnancy. Factors which were found to be statistically associated with knowledge were education level, employment status, and adherence to antenatal visits during pregnancy (p < 0.05). Age and employment status appeared to be associated with practice where older and employed mothers had higher odds of competency (p < 0.05). CONCLUSIONS: The proportions of correct answers measuring knowledge and practice adequacy concerning newborn care varied between 40% to 93%. Knowledge and practice appeared to be associated with demographic factors, such as level of education, age, and attending antenatal care visits.