ABSTRACT
Background Hemophagocytic lymphohistiocytosis (HLH) is an uncommon, potentially fatal condition caused by high immune activation. The present study aimed to identify the clinical manifestations, geographic distribution, and associated pathogenic genetic mutations of HLH in Saudi Arabia. Method A retrospective cross-sectional study was conducted at King Fahad Medical City (KFMC), with a total of 59 patients diagnosed with HLH in the period between 2006 and 2018. All genetic results and clinical and biochemical data were retrieved and statistically analyzed using IBM SPSS Statistics for Windows, Version 25 (Released 2017; IBM Corp., Armonk, New York, United States). Results The results revealed that 48 patients (81.4%) had 15 pathogenic mutations of primary HLH whereas 8 (13.6%) patients had no genetic mutation. The most common variant mutation identified was c.1430C>T of the STXBP2 gene (42.4% of total patients), followed by c.1122G>A of the PRF1 gene (10.2% of patients), which demonstrated a distinctive geographic and tribal association. Patients with RAB27A mutation tend to present at an older age than the others with a median age of presentation of 5.5 months vs 2 months for patients with PRF1 mutations. No significant differences in clinical features were observed among the various groups. Conclusion This study highlights the incidence of genetic mutations among the Saudi population with HLH. The STXBP2 is the most common mutation followed by PRF1 mutations, many mutation variants are associated with a distinctive tribal and geographic association.
ABSTRACT
Background Breastfeeding and complementary feeding are essential for baby health and nutrition. Concerning these feeding habits, there is a dearth of information on mother awareness and behaviors in Saudi Arabia. This study intends to evaluate maternal knowledge of breastfeeding and complementary feeding in Al Baha City, Saudi Arabia. Methodology This cross-sectional prospective study was conducted among mothers in Al Baha City, Saudi Arabia. Data were collected using a structured electronic questionnaire and analyzed using descriptive statistics and a chi-square test. Results We received 524 responses. The majority of participants (358, 68.2%) were found to have sufficient understanding of breastfeeding and complementary feeding. Four hundred and forty participants (84%) were aware that breastfeeding should begin immediately after birth, but only 250 (47.7%) participants knew the proper time to start complementary feeding. Three hundred and ninety-six (75.6%) participants were aware of the proper duration of exclusive breastfeeding, whereas 128 (24.4%) of them did not know. The study showed that factors such as occupation, family economic status, and educational level influence maternal knowledge of complementary feeding. Conclusions The study revealed that the majority of participants had good knowledge about breastfeeding and complementary feeding. The study highlights effective training and public awareness initiatives aimed at improving mothers' knowledge and practices regarding feeding. Additionally, it sheds light on the healthcare providers' exemplary knowledge and attitudes toward appropriate feeding practices among mothers in Al Baha City.
ABSTRACT
Chediak-Higashi syndrome (CHS) is a congenital immunodeficiency disorder characterized by recurrent bacterial infections, oculocutaneous albinism, and abnormal intracellular protein transport. The incidence of CHS is rare, with approximately 500 cases reported so far. One of the key immunological features of CHS is neutropenia. The management of CHS includes supportive treatment, chemotherapy, methylprednisolone, IL-2 administration, and hematopoietic stem cell transplantation (HSCT). However, neutropenia can persist even after these treatments. This case report presents the successful management of severe neutropenia in an 8-year-old girl diagnosed with CHS. The patient exhibited classic CHS features, including hypopigmentation and recurrent infections. Initial treatment with antibiotics led to the resolution of the fever, but severe neutropenia persisted. Granulocyte-colony stimulating factor (G-CSF) therapy was initiated, which resulted in a substantial increase in the absolute neutrophil count (ANC) with no adverse effects. Throughout treatment with G-CSF, the patient remained stable. The patient was finally referred to the tertiary care center for consideration of bone marrow transplantation. This case highlights the potential safety and efficacy of G-CSF in managing CHS-associated neutropenia.