Siblings With Thrombocytopenia Found To Have a Pathogenic Variant in the NFkB1 Gene.

Immune thrombocytopenic purpura is one of the most common causes of low platelet count in the pediatric population. Secondary thrombocytopenia has a wide differential diagnosis in children, including rheumatological, hematological, and immunological etiologies. Underlying etiologies must be excluded if suspected before labeling the patient as primary thrombocytopenia. Here, we report two siblings with persistent and profound thrombocytopenia. A 10-year-old girl presented with profound and treatment-refractory thrombocytopenia. Given the patient's family history of thrombocytopenia of unknown pathology in her older brother, immune dysregulation-related thrombocytopenia was suspected. Whole exome sequencing confirmed a previously reported pathogenic variant in the NFKB1 gene linked to common variable immunodeficiency 12 (CVID-12) diagnosis for both patients.

Overview of complications associated with epidermolysis bullosa: A multicenter retrospective clinical analysis of 152 cases.

BACKGROUND/PURPOSE: Epidermolysis bullosa (EB) is a rare disease of skin and mucosa which may causes surgical complications. We review these in a large patient cohort from Saudi Arabia. METHODS: A retrospective study was conducted at 21 centers between 2003 and 2020. Demographic data and information on EB type [Simplex (EBA), Dystrophic (DEB) and Junctional (JEB)]. The dataset included clinical features, operations, surgical complications, and treatment. RESULTS: There were 152 (63 male) children with EB [EBS n = 93 (61.2%); DEB n = 30 (19.7%); JEB n = 25 (16.4%), and Kindler syndrome n = 4, (2.6%)]. Children with JEB and DEB tended to have a higher frequency of skin and musculoskeletal system complications (skin cancer, pseudosyndactyly and recurrent skin infection). Esophageal strictures were mostly seen in DEB (n = 19, 63%) and to a lesser extent in EBS (n = 20, 21%) and JEB (n = 4, 16%). Pyloric atresia was uncommon (n = 4) and limited to those with JEB. Percutaneous gastrostomy for feeding support was used in all types. Ankyloglossia was common but often recurred (76%) after division. Circumcision was usually safe and complication-free in male children except in those with severe JEB. Phimosis was reported in 10% of uncircumcised patients. CONCLUSIONS: Our series showed that surgeons play a key role in the management of some complications associated with EB. It is also important to be aware of the particular sub-type as this can predict the natural history and likely response to treatment. LEVEL OF EVIDENCE: 2.

Are Safe Sleep Practice Recommendations For Infants Being Applied Among Caregivers?

Background Sudden infant death syndrome (SIDS) is defined as the sudden unexpected death of an infant, even after investigations and autopsy. SIDS is related to many factors, such as the baby's position and objects in the crib. Adherence to safe sleep recommendations in Saudi Arabia is unclear. This study aims to assess caregivers' implementation of safe sleep practices and if they received any safe sleep education through health care workers. Methods This was a cross-sectional, descriptive study. Inclusion criteria included all infants below the age of one year. Exclusion criteria included infants who were born premature, used ventilation, had a tracheostomy, any anomaly in the upper airway, or underwent spine surgery. A semi-structured questionnaire was used. Data were collected from mothers who had infants visiting the outpatient department of King Abdulaziz University Hospital in Jeddah, Saudi Arabia. An electronic survey was also created and published on a social platform.  Statistical analysis was conducted with the aid of the Statistical Package for Social Sciences (SPSS) software, version 26 (IBM SPSS Statistics, Armonk, NY). Results Among 506 participants, only 22.5% were found to receive education about safe practices from health care providers. Fortunately, most of the infants (63.2%) were found to sleep in a supine position most of the nights. Adherent caregivers to placing the child in a designated baby bed and in a supine position most nights represented 44.86% of the sample. However, when asked about placing any of the following objects in the bed (pillows, blankets, soft toys, hard toys, and electric wires), the percentage of adherence dropped down to only 1.58%. Conclusion There was an obvious non-adherence among caregivers and a possible lack of knowledge of safe sleep recommendations for infants. This highlights the need for optimal education by health care workers and the rule of media and campaigns is obvious and essential to improving their practices and, hopefully, decreasing the risk of SIDS.

Females' Knowledge and Use of Isotretinoin (Roaccutane) in the Western Region of Saudi Arabia.

Background Acne vulgaris is one of the most common diseases worldwide. It is a chronic, relapsing inflammatory skin disease. Nearly anyone can be affected at any age. Adolescents and young adults are more susceptible, with a prevalence as high as 35% to 90% and reaching up to 100% in both sexes. Isotretinoin is the most effective medication to be used. It has been reported in the literature that many populations are non-adherents to or aware of safety recommendations. This study aims to assess females' awareness and safety of isotretinoin use in the western region of Saudi Arabia. Methods This is a cross-sectional, descriptive study. A semi-structured questionnaire was used, data was collected from an electronic validated survey and published on a social platform. Statistical analysis was conducted with the aid of Statistical Package for Social Sciences (SPSS) version 21 (IBM Corp., Armonk, NY, USA). Results The total number of included responses was 1066. Most of the participants were 12-22 years old (45.2%), single (72.2%) and had a bachelor's degree (69.6%). Among the total number of participants there were 285 participants who used isotretinoin. Ninety-three percent of them had a prescription of isotretinoin from a physician. The common dose given was approximately 20 mg and the common duration was more than six months. Conclusion There is a good amount of knowledge in our population regarding isotretinoin side effects, although only half of them were informed about them by their treating physicians. We noticed an obvious lack of awareness about safe practice during childbearing age and marriage. This highlights the need for optimal education by health care providers and the role of media is obvious to improve their practices and hopefully decrease the risks as it was the second most common source of information after dermatologists in our population. Also we recommend paying more attention to the psychological side effect which was reported by 9% of our participants.