Annals of Saudi medicine最新文献

Background: Alpha-1 antitrypsin (A1AT) deficiency has been recognized as an adverse prognostic determinant in severe instances of COVID-19.

Objective: To determine the A1AT phenotypes and levels in individuals at various clinical stages of COVID-19 compared to healthy controls.

Design: Case-control study.

Settings: Hospital Raja Perempuan Zainab II (HRPZ II) and Hospital Ampang, Malaysia.

Patients and methods: The analysis included a total of 282 patients. We categorized 188 COVID-19 patients from two centres in Malaysia into two groups: mild to moderate (stages 1-3) and severe to critical (stages 4-5) and compared them with 94 healthy controls.

Main outcome measures: A1AT phenotypes and levels in different COVID-19 stages compared to healthy controls.

Sample size: 282 subjects.

Results: The frequency (n) and percentage (%) in the control group, 88 (93.6) exhibited PiMM phenotypes, whereas 6 (6.4) displayed PiXM/PiYM phenotypes. Within the mild to moderate COVID-19 group, 88 (93.6) had PiMM phenotypes, 3 (3.2) featured PiXM/PiYM, and 1 presented PiBM phenotypes. Among severe to critical COVID-19 patients, the PiMM phenotype was identified in 61 (64.9) with 16 (17) having PiBM phenotypes, 4 (4.5) displaying PiCM, 2 (2.1) featuring PiXM/PiYM, and 1 (1.1) presenting PiEM phenotypes. Variants such as MS, MZ, S, and Z were undetected. However, 12 COVID-19 patient samples yielded inconclusive results. Median (IQR: 25th to 75th percentile) A1AT concentrations for controls were 1.8 (1.3-2.3) g/L, for mild to moderate cases 1.9 (1.2-2.6) g/L, and for severe to critical COVID-19 cases 2.1 (1.4-2.8) g/L.

Conclusion: This research identifies the PiMM phenotype as the predominant phenotype expression within the studied population. This prevalence underscores the potential role of genetic factors in determining the biological response to SARS-CoV-2 infection. The presence of another phenotype variant across the study population suggests a nuanced genetic landscape that warrants further exploration.

Limitation: The absence of follow-up A1AT quantification and baseline measurements limits the assessment of disease progression. The isolectric focusing phenotyping technique used might have missed specific A1ATD variants.

Background: Stroke rehabilitation is a vital component of post-stroke care, and the length of stay (LOS) in hospitals and rehabilitation centers varies across healthcare systems. This systematic review and meta-analysis assessed LOS among stroke survivors in Arab countries.

Methods: A comprehensive literature search identified studies reporting LOS in stroke rehabilitation. A comprehensive literature search from the inception until March 2025 identified studies reporting LOS in stroke rehabilitation.

Results: A total of 18 publications (25 datasets) involving 12 690 individuals were included in the meta-analysis. The pooled mean LOS was 25.67 days [95% confidence interval (CI): 16.22-35.11]. Subgroup analyses showed a longer LOS in Saudi Arabia (37.03 days, 95% CI: 24.11-49.95) compared to other Arab countries (8.87 days, 95% CI: 4.90-12.84), and in rehabilitation centers (46.71 days, 95% CI: 33.18-60.24) compared to acute hospital settings (9.07 days, 95% CI: 5.27-12.86). LOS varies widely across Arab countries and care settings.

Conclusion: These findings highlight the need to examine whether differences in LOS are associated with functional recovery and healthcare efficiency. However, substantial heterogeneity across studies and a lack of outcome data limit the interpretability of the results.

Background: Pulmonary hemorrhage (PH) is a rare, life-threatening event characterized by bleeding into the airways and lung parenchyma.

Objectives: To explore the clinical characteristics of PH patients and investigate mortality-related risk factors, providing a holistic understanding of patient outcomes in this population.

Design: A retrospective cohort study.

Settings: The Pediatric Intensive Care Unit (PICU) at King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi Arabia.

Patients and methods: Pediatric patients with PH episodes (aged 1 month to 14 years) who were admitted from January 2014 to September 2019.

Main outcomes measures: Clinical characteristics, outcomes, and mortality-related risk factors.

Sample size: 80 children.

Results: The cohort had a sex ratio of 1:1 and a median age of 24 months [interquartile range: 9-78]. Medical histories included bone marrow transplant (51.3%), oncology cases (40.0%), chemotherapy (61.3%), chest infection (86.3%), and immunosuppressant use (71.3%). Additionally, most patients (87.5%) had acute respiratory distress syndrome during the PH episode. The overall PICU mortality rate was 82.5% (66/80), and was associated with thrombocytopenia, sepsis, renal impairment, liver dysfunction, multiorgan dysfunction, and altered code status in univariable analysis (all P <.05). Multivariate analysis identified sepsis, multiorgan dysfunction, and altered code status as key predictors of PICU mortality (P <.05).

Conclusion: The high mortality rate reported emphasizes the need for tailored interventions and heightened vigilance, particularly in immunocompromised children. Future research will expand on these findings to refine current management protocols and further improve patient care in pediatric PH.

Limitations: Retrospective study, single-center.

Background: The coronavirus disease (COVID-19) pandemic has significantly disrupted healthcare systems, delaying the diagnosis and treatment of various diseases, including colorectal cancer (CRC).

Objectives: To determine differences in patient demographics, clinical and histopathological characteristics, and survival rates in patients diagnosed with CRC before and during the first year of the pandemic.

Design: Retrospective cohort study.

Setting: Tertiary-care center.

Patients and methods: We included 284 patients newly diagnosed with CRC, stratified into two cohorts: those diagnosed one year before and during the first year of the pandemic. Patient demographics, tumor characteristics (diameter, location, histological type, grade, multifocality, invasion depth, lymphovascular and perineural invasion, number of metastatic lymph nodes, tumor budding, and deposits), and clinical factors (operability, presence of distant metastases, and survival status) were evaluated.

Main outcome measures: Tumor stage at diagnosis, histopathological aggressiveness, and overall survival rates.

Sample size: 284 patients.

Results: Patients diagnosed during the pandemic had a significantly higher incidence of distant metastasis (14.8% vs. 5.1%, P=.005), a greater proportion of pT4b stage tumors (12.9% vs. 0.6%, P<.001), and a higher prevalence of rectosigmoid tumors (41.4% vs. 24.4%, P=.002). Additionally, tumor budding (63.6% vs. 47.3%, P=.014) and perineural invasion (35.2% vs. 24.5%, P=.053) were more common in the pandemic cohort. During the pandemic, significant shifts occurred in treatment modalities (P=.005), with increased utilization of neoadjuvant chemotherapy (18.8% vs. 11.5%), radiotherapy (22.7% vs. 12.2%), and palliative treatments (14.9% vs. 5.1%). Survival analysis showed no differences in survival rates between groups across all time points, including at three-year follow-up (P>.05).

Conclusions: The COVID-19 pandemic has led to increased metastasis and advanced tumor rates in CRC cases, possibly owing to diagnostic delays. Although survival outcomes were similar between the periods, delayed effects on prognosis may manifest, necessitating long-term follow-up.

Limitations: Retrospective design, single-center study.

Background: Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is a rare disease but the most common cause of persistent neonatal hypoglycemia, often requiring early pancreatectomy. In cases of persistent/relapsed hypoglycemia, redo surgery may be necessary.

Objectives: We report our experience with the redo of laparoscopic pancreatectomy at a tertiary healthcare center.

Design: Single-center, retrospective study.

Setting: Tertiary health care center.

Patients and methods: We conducted a retrospective review of the patients who underwent redo laparoscopic pancreatectomy between March 2004 and April 2021. Demographic, clinical, and follow-up data were collected and analyzed. Descriptive data were generated.

Main outcome measures: Feasibility and safety of the procedure. Success in controlling the PHHI.

Sample size: 82 patients.

Results: We managed 82 patients with PHHI by pancreatectomy, 11 of whom (6 boys and 5 girls) required redo procedures to control hypoglycemia, with 2 needing 2 redo procedures. The mean age during the redo procedure was 21 months. The redo procedures were performed at a mean duration of 15.5 months after the primary pancreatectomy. All patients exhibited the histologically diffuse type. The mean follow-up was 7 years. All cases were managed successfully after the redo procedures. Six patients were on medical treatment, 4 developed diabetes mellitus, and 1 became euglycemic). Two patients developed severe pancreatitis postoperatively, 1 required drainage of the infected collection and 1 developed thrombosis of the inferior vena cava, which was managed with anticoagulation medication.

Conclusions: Redo laparoscopic pancreatectomy is feasible, safe, and effective option for managing persistent or recurrent hypoglycemia after primary pancreatectomy in diffuse PHHI. Sufficient experience with laparoscopic pancreatectomy is required for redo surgeries.

Limitations: Retrospective design of the study may introduce bias.

Background: The management of intra-abdominal fistulizing Crohn's disease involves surgical resection and biologic therapy. The criteria for choosing one therapy over the other are debated.

Objectives: Identify factors influencing the choice of early surgical intervention over biologic therapy.

Design: Retrospective.

Setting: Single center, tertiary training and research hospital.

Patients and methods: We analyzed adult patients with Crohn's disease who had intra-abdominal fistulas and were followed for three years. Baseline data were collected from medical records, and imaging studies assessed the fistula type, number, affected segment length, and presence of strictures and abscesses. Multivariable logistic regression analysis was used to identify predictors for surgical intervention.

Main outcome measures: Factors that led to early surgical intervention in patients with intra-abdominal fistulizing Crohn's disease.

Sample size: 73 patients.

Results: Seventy-three patients met the inclusion criteria: 27 (37.0%) in the nonsurgical group and 46 (63.0%) in the surgical group. Early surgical intervention was done if patients had bloating or constipation (P=.018), extensive disease segments (P<.001), and no prior biologic treatment (0.015). In the multivariate analysis, early surgical intervention was indicated for enterocutaneous fistulas (odds ratio [OR]: 8.20, 95% confidence interval [CI]: 1.25-53.80, P=.03), abscesses (OR: 5.18, 95% CI: 1.03-26.12, P=.046), and strictures (OR: 6.08, 95% CI: 1.26-29.25, P=.024). Nonsurgical fistula treatment resulted in complications in 55% of patients, 48% of them requiring surgical resections, whereas biologic treatment achieved a 40.7% fistula healing rate.

Conclusions: Findings associated with Crohn's fistulas, including enterocutaneous fistulas, extensive disease segments, strictures, and abscesses, are associated with a higher likelihood of early surgical intervention and may suggest potential ineffectiveness of biologic therapies.

Limitations: This was a retrospective analysis of a single center with a small sample size, which may involve a degree of recall bias when data are collected, thus reducing the reliability of the results.

Background: Chromosomal abnormalities are a significant cause of miscarriages. Carriers of balanced chromosome rearrangement are often at risk of recurrent pregnancy loss (RPL), as they are more likely to produce gametes with unbalanced chromosome rearrangements.

Objective: This study evaluated the chromosomal abnormalities detected in couples with history of primary recurrent pregnancy loss.

Design: Retrospective, cross-sectional study.

Setting: Single center, tertiary healthcare center in Turkey.

Patients and methods: This study reviewed conventional cytogenetic/molecular cytogenetic analysis data of 4030 patients (2015 couples) who visited the clinic from 2008-2024.

Main outcome measures: Chromosomal abnormalities in patients diagnosed with primary recurrent pregnancy loss and genetic testing results of spontaneously achieved pregnancies in 16 patients with a balanced chromosomal rearrangement.

Sample size: 4030 individuals (2015 couples).

Results: Majority of couples had a history of two spontaneous miscarriages (59.4%), followed by couples with 3 miscarriages (28.1%), 4 miscarriages (7.5%), and 5 or more miscarriages (4.91%). Chromosomal abnormality was detected in 133 (3.3%) cases. Among the revealed abnormalities, 130 (97.7%) were structural chromosome anomalies, while only 3 (2.3%) numerical chromosome anomalies were observed, including sex chromosome aneuploidy in 2 cases and mosaic karyotype in one case. Among the detected 130 structural chromosome abnormalities, reciprocal translocations (86 cases, 66.2%) were most frequently observed, followed by Robertsonian translocations in 26 cases (20.0%), inversion in 11 cases (8.5%), marker chromosome in 5 cases (3.8%), and derivative chromosomes in 2 cases (1.5%). Products of conception (conceptus materials) were analyzed from 16 spontaneously conceived pregnancies in individuals identified as carriers of chromosomal rearrangements. Although reciprocal translocations involving acrocentric chromosomes are typically expected to result in 3:1 meiotic segregation, adjacent-1 segregation was observed in two female individuals carrying the translocation t(9;15)(p22;q23). This finding is likely due to the limited genetic content of the translocated segments. Additionally, a novel complex three-way translocation, t(5;7;13)(p12;p12;p11), was identified for the first time.

Conclusion: Cytogenetic and molecular analyses are crucial components in the etiological investigations of couples with RPL.

Limitations: Retrospective design.

Background: Sickle cell disease (SCD) is a chronic condition characterized by acute vaso-occlusive crisis (AVOC), which is the primary cause of emergency department (ED) visits for SCD patients. Despite recommendations for opioid use to manage AVOC pain, regional variations and biases in pain management persist, particularly in Saudi Arabia, where the prevalence of SCD varies by region.

Objective: To identify national trends in pain management for AVOC in EDs across Saudi Arabia and analyze the duration and frequency of ED visits.

Design: A multicenter retrospective cohort study.

Settings: Multiple acute care centers in Saudi Arabia under the Ministry of National Guard Health Affairs, including EDs and urgent care centers in Riyadh, Jeddah, Al-Ahsa, Dhahran, and Medina.

Patients and methods: A total of 421 SCD patients presenting with AVOC between 2016 and 2021 were included. Patients with other complications such as infections or acute chest syndrome were excluded. Data on patient demographics, ED visit frequency, length of stay, and medications administered were collected.

Main outcome measures: The primary outcomes were the duration and frequency of ED visits and the types and frequency of analgesics administered.

Sample size: The study included 421 patients accounting for 20 508 ED visits.

Results: The average length of stay per ED visit was 4.7 hours. Morphine was the most frequently used opioid, administered to 86% of patients, while paracetamol was the most commonly used analgesic overall (93%). Regional differences were observed, with less opioid use in the Eastern region, where the disease is less severe due to haplotype variations. Ketamine was used in 13% of cases, predominantly in the Western region.

Conclusions: The study highlights a diverse approach to AVOC management across Saudi Arabia, with variations influenced by regional differences and physician practices. Paracetamol and morphine were the primary analgesics, though disparities in opioid use suggest the need for standardized pain management protocols.

Limitations: This study was limited to centers under one organization and excluded patients with coexisting conditions, which may limit generalizability.

Background: Breast cancer is one of the most common cancers in women globally. Axillary lymph node metastasis remains one of the most independent prognostic factors in breast cancer.

Objective: Evaluate the diagnostic accuracy of 18F-FDG-PET/CT in detecting axillary lymph node metastasis based on immunohistochemical subtypes and its correlation with sentinel lymph node biopsy (SLNB) results.

Design: A retrospective cohort.

Setting: Tertiary oncology center in Turkiye.

Patients and methods: Patients diagnosed with early-stage invasive ductal breast cancer and who underwent preoperative F-18 fluorodeoxyglucose positron emission computed tomography (18F-FDG PET/CT) evaluation were included in the study. Patients were divided into five immunohistochemical subtypes: Luminal A, Luminal B HER2 (-) (human epidermal growth factor receptor 2), Luminal B HER2 (+), HER2 (+), and triple negative. SLNB and SUVmax (Maximum Standard Unit Value) results were compared.

Main outcome measures: Diagnostic accuracy of 18F-FDG PET/CT for detecting axillary metastasis was the primary outcome. Interrater reliability testing in determining the agreement between 18F-FDG PET/CT and SLNB was the secondary outcome.

Sample size: 248.

Results: The sensitivity, specificity, PPV, NPV and accuracy of 18F-FDG-PET/CT for detecting axillary metastasis were 62%, 92%, 88%, 71% and 77%, respectively. Cohen's Kappa coefficient (0.54) showed moderate agreement with SLNB (P<.001). Tumors with positive HER2 gene amplification [HER2 (+) and Luminal B HER2 (+) have higher sensitivity than other subtypes (Luminal A, Luminal B HER2 (-) and triple negative). HER2 gene amplification also increases the agreement between 18F-FDG-PET/CT and SLNB results.

Conclusion: 18F-FDG-PET/CT has a high specificity but low sensitivity for ipsilateral axillary metastasis in invasive ductal carcinoma. The presence of HER2 gene amplification can increase sensitivity and concordance with SLNB.

Limitations: Retrospective design and limited number of patients for each subtype.

Background: Aerodigestive foreign bodies (ADFBs) are a common pediatric emergency, often caused by tiny objects like toys, coins, seeds, and other foreign materials getting lodged in the airway during swallowing or breathing. Inadequate handling and delayed treatment could lead to potentially life-threatening complications. Understanding the symptoms and dangers associated with ADFBs is crucial in implementing preventative measures to reduce their occurrences.

Objectives: The study aimed to evaluate the epidemiology, clinical characteristics, management strategies, and outcomes of pediatric patients with ADFBs in the Qassim region.

Design: Single-center, retrospective study.

Setting: Maternal and Children's Hospital, Qassim, Saudi Arabia.

Patients and methods: Retrospective data of pediatric patients (0-14 years) with confirmed ADFBs recorded over the past 5 years at Maternal and Children Hospital (MCH) in Buraidah, Saudi Arabia. Data was first cleaned and then analyzed using SPSS version 26 to obtain crucial insights.

Main outcome measures: Common characteristics and management strategies of ADFBs in pediatric patients, including demographic factors, such as age and gender, the type and location of the foreign bodies, and the clinical presentation and outcomes following intervention.

Sample size: 149 patients.

Results: Most patients were symptomatic 89 (59.7%) with frequent symptoms such as vomiting 38 (42.7%) followed by drooling 14 (15.7%) and cough 13 (14.6%). Most of the objects 122 (81.9%) were radiopaque, impacted in the upper esophagus above clavicle 90 (60.4%). The common foreign body type identified were coin 96 (64.4%); seeds 8 (5.4%) and battery 8 (5.4%). Most objects (91.94%) were visualized, and 76.5% were removed via endoscopy. Only 10 (6.7%) of the patients had complications with nearly one-third 3 (30.0%) of them presenting with erosion.

Conclusion: Common foreign body types reported are coins, seeds, and batteries. Most objects impacted are radiopaque; with endoscopy commonly used in visualization and foreign body extraction from patients. The study highlights the need for increased awareness among caregivers regarding pediatric safety and the potential risks and complications associated with ADFBs. It recommends prompt action, including medical intervention and preventive measures, to reduce the incidence and risks of ADFBs.

Limitation: Single-center and retrospective design limited the generalizability of the investigation.