Clinical Presentations, Diagnosis, and Genetic Features of Hemophagocytic Lymphohistiocytosis: A Single Institutional Experience With the Saudi Population.

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.

Complementary Feeding for Children Aged 6-24 Months: Impact and Maternal Awareness in Al Baha City, Saudi Arabia.

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.

Management of Severe Neutropenia in a Child With Chediak-Higashi Syndrome Using Granulocyte-Colony Stimulating Factor (G-CSF): A Case Report.

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.

Prevalence and Risk Factors of Home Accidents Among Children Under Five Years of Age in Al-Baha, Saudi Arabia.

INTRODUCTION: Internationally, home accidents are the main cause of preventable debilities and death among children and young persons. Many times, children survive accidents with physical or mental damage that curtails their activities in the long term. The most commonly reported accidental injuries include head injuries, open wounds, and poisoning. This study aims to assess the prevalence and factors associated with home accidents among children under five years old in the Al-Baha region, Saudi Arabia. METHODS: A descriptive cross-sectional study was conducted among the community population in the Al-Baha region, Saudi Arabia, targeting all accessible parents who have children under five years old. A convenience sampling technique was used for sample collection during the period of three months (May 2023 to July 2023), where all accessible parents who fulfilled the inclusion criteria and agreed to participate were invited to fill out the received online study questionnaire. Section 1 covered the participants' demographic data. The second section covered the children's data and the third section included questions about home accident types, frequency, severity, and causes.  Results: The findings showed that 205 (58.2%) study parents reported a history of home accidents among their children. As for accident data, about 122 (59.5%) of the injured children were males. The most reported home accidents among children were fall/impact with hard objects (58.2%), burn (30.7%), asphyxia (27.6%), and poisoning (24.4%). Families with more than seven members and those with four or more siblings significantly experienced higher home accidents than others (p<0.001). CONCLUSION: In conclusion, the current study showed that home accidents among children under five years of age were mainly falls and burns; they were mainly found among male children and children in families with highly educated mothers and many kids. A majority of the reported cases of home accidents were less severe and the hospitalization rates with complications were very few.