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

Key Clinical Message 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

Rare presentation of infective endocarditis due to Salmonella entrica subspecies salamae (subgroup ll) in a sickle cell anemia girl

Sickle cell anemia (SCA) is a common inherited kind of hemolytic anemia in Africa and some areas of Asia. In Saudi Arabia, SCA is prevalent as well. The patient of SCA is prone to some bacteria species more than the others, and Salmonella is one of the most prevalent infections in SCA that were known to cause bacteremia, osteomyelitis, septic arthritis, and gastroenteritis. Herein, we report a 7-years old girl who presented with a history of fever for five days and jaundice with abdominal pain and mild respiratory distress. Later, the patient was diagnosed to have infective endocarditis due to Salmonella enterica subspecies salamae (subgroup II). The patient improved completely after receiving proper antibiotics. To the best of our knowledge, there is only one case of adult SCA that has been reported with infective endocarditis due to Salmonella entrica but no reported case in pediatric

Pancreatic surgery outcomes: multicentre prospective snapshot study in 67 countries

Background: Pancreatic surgery remains associated with high morbidity rates. Although postoperative mortality appears to have improved with specialization, the outcomes reported in the literature reflect the activity of highly specialized centres. The aim of this study was to evaluate the outcomes following pancreatic surgery worldwide.Methods: This was an international, prospective, multicentre, cross-sectional snapshot study of consecutive patients undergoing pancreatic operations worldwide in a 3-month interval in 2021. The primary outcome was postoperative mortality within 90 days of surgery. Multivariable logistic regression was used to explore relationships with Human Development Index (HDI) and other parameters.Results: A total of 4223 patients from 67 countries were analysed. A complication of any severity was detected in 68.7 percent of patients (2901 of 4223). Major complication rates (Clavien-Dindo grade at least IIIa) were 24, 18, and 27 percent, and mortality rates were 10, 5, and 5 per cent in low-to-middle-, high-, and very high-HDI countries respectively. The 90-day postoperative mortality rate was 5.4 per cent (229 of 4223) overall, but was significantly higher in the low-to-middle-HDI group (adjusted OR 2.88, 95 per cent c.i. 1.80 to 4.48). The overall failure-to-rescue rate was 21 percent; however, it was 41 per cent in low-to-middle-compared with 19 per cent in very high-HDI countries.Conclusion: Excess mortality in low-to-middle-HDI countries could be attributable to failure to rescue of patients from severe complications. The authors call for a collaborative response from international and regional associations of pancreatic surgeons to address management related to death from postoperative complications to tackle the global disparities in the outcomes of pancreatic surgery (NCT04652271; ISRCTN95140761)