Armed Forces College of Medicine

Alazami syndrome is a neurodevelopmental disorder characterized by postnatal growth retardation, moderate to severe intellectual disability, and facial dysmorphology. It is caused by biallelic variants in the transcriptional regulator La ribonucleoprotein 7 (LARP7), where frameshift variants accounted for the majority of cases. The current study presents 7 new patients, including 3 males and 4 females from 3 unrelated families. Careful and thorough clinical examination identified novel oro-dental disease abnormalities, including a prominent premaxilla and enamel defects. The detected variants (c.1113_1116del, c.997 + 2T > C and c.518T > C) were not reported in the previous studies. The substitution c.518T > C represented the second missense variant to be identified in patients with Alazami syndrome. Male patients from the three families fulfilled ≥ 2 clinical warning signs of primary immunodeficiency. Lymphocyte subset counts and immunoglobulin levels were estimated in patients from two families. The values were within reference ranges, with only minor non-significant alterations in cytotoxic T-cell counts. A functional assay of B lymphocyte response was performed in one family, demonstrating impaired Streptococcus pneumoniae IgG antibody production following Pneumovax vaccination in the male patient, while his female sibling mounted an adequate response. In conclusion, the disease has a wide range of symptoms, which vary greatly among the affected patients. Our study expanded the clinical and molecular spectrum of the disorder and highlighted immunodeficiency as an underrecognized disease feature, potentially with a male sex predilection.

Introduction: Hepatic injury is a known side effect of the antiarrhythmic drug amiodarone. The research aimed to assess the possible protective effects of nicorandil and bone marrow-derived mesenchymal stromal cells (MSCs) in amiodarone-induced liver injury. Methods: Thirty-six male adult albino rats were divided into the following six groups: 1) normal control; 2) nicorandil group (which received oral nicorandil at 10 mg/kg/day); 3) bone marrow mesenchymal stromal cells (BM-MSCs) group (which received 3×10⁶ cells/ml of BM-MSCs suspended in 0.2 ml of phosphate buffered saline (PBS) administered via tail vein injection); 4) amiodarone-induced liver toxicity group (which received oral amiodarone at 25 mg/kg/day once daily); 5) nicorandil-treated group (which received both amiodarone and nicorandil); and 6) MSCs-treated group (which received both amiodarone and BM-MSCs). The fibrotic biomarker transforming growth factor beta-1 (TGF-β1), as well as the inflammatory biomarkers interleukin-6 (IL-6) and tumor necrosis factor alpha (TNF-α), were assessed by quantitative polymerase chain reaction (qPCR). The oxidative stress markers superoxide dismutase (SOD) and malondialdehyde (MDA) were assessed by enzyme-linked immunosorbent assay (ELISA). Liver function tests, including aspartate transaminase (AST), alanine transaminase (ALT), and albumin, were assessed using colorimetric methods. In support of these analyses, histopathological examination utilizing hematoxylin and eosin (H&E) and Masson's trichrome stains was performed. Results: Nicorandil and MSCs efficiently reduced hepatic fibrosis and improved liver function biomarkers. Serum TNF-α, IL-6, TGF-β1, and MDA values were restored to nearly normal levels. Conclusion: Nicorandil and MSCs are promising hepatoprotective agents against amiodarone-induced hepatic toxicity through their antioxidant and anti-inflammatory potentials.

Background: Ischemic heart disease is a leading cause of heart failure worldwide. Coronary revascularization by percutaneous coronary intervention (PCI) or coronary artery bypass grafting (CABG) restores myocardial perfusion and may improve electrical stability in patients with ischemic left ventricular dysfunction. Corrected QT interval and heart rate variability are established predictors of arrhythmic risk and mortality. Objectives: To evaluate the effect of coronary revascularization on cardiac electrical activity using surface ECG and 24-hour Holter monitoring in patients with ischemic left ventricular dysfunction. Methods: In this prospective, non-randomized study, 80 patients with EF <50% were allocated to a revascularization group (PCI or CABG; n=40) or a medical therapy group (n=40). ECG and 24-hour Holter monitoring were performed at baseline and one month post-intervention. Results: Revascularization significantly reduced corrected QT interval (432.4 ± 23.9 ms vs. 427.3 ± 23.1 ms; P = 0.003) and QT dispersion, with a greater decrease than medical therapy (P < 0.001 vs. P = 0.035). Heart rate variability improved markedly after revascularization (P < 0.001). Non-sustained ventricular tachycardia observed at baseline resolved completely in all affected patients (P = 0.024). Conclusions: Revascularization was associated with improvements in ECG markers of electrical stability, including corrected QT interval (P = 0.003), QT dispersion (P < 0.001), and heart rate variability (P < 0.001), with complete resolution of NSVT (P = 0.024). These findings suggest enhanced myocardial electrical stability; however, medication adjustments and residual ischemia may have influenced outcomes. Further studies are needed to clarify causal relationships and long-term prognostic impact

Background: The neutrophil-to-lymphocyte ratio (NLR) has emerged as a potential predictive biomarker for pathological complete response (pCR) in breast cancer patients receiving neoadjuvant chemotherapy (NACT). As an indicator of inflammation and immune response, its prognostic value remains unclear. This study evaluates the association between pre-treatment NLR and pCR. Methods: This prospective observational study was conducted at the Medical Oncology Department of Maadi Military Hospital on breast cancer patients eligible for NACT. Patients were categorized into low (≤2.2) and high (>2.2) NLR groups. Clinical assessments, laboratory tests, and pathological evaluations were performed, with pCR assessed using CRS criteria. Results: Hypertension was significantly associated with pCR (p = 0.008), while the absence of comorbidities was linked to a lower likelihood of response (p = 0.017). A lower pre-treatment NLR was a strong predictor of pCR (p < 0.001), whereas post-treatment NLR showed no significant association (p = 0.541). Multivariate analysis confirmed that comorbidities (OR = 3.76, p = 0.017) and triple-negative breast cancer (OR = 4.03, p = 0.029) were significant predictors of pCR, while post-NLR exhibited a near-significant inverse correlation (OR = -6.52, p = 0.067). Conclusion: Our findings suggest that lower pre-NLR is strongly associated with better pCR rates in breast cancer patients undergoing NACT. Unexpectedly, comorbidities, particularly hypertension were also linked to a higher likelihood of achieving pCR. These results highlight the role of inflammatory markers in treatment response. Further research is warranted to validate pre-NLR as a biomarker and explore the impact of comorbidities on neoadjuvant therapy outcomes.

Background: Laparoscopic cholecystectomy (LC), though minimally invasive, is often associated with notable postoperative pain. Truncal blocks such as the Erector Spinae Plane Block (ESPB) and the Thoracoabdominal Nerves Block through the Perichondrial Approach (TAPA) have been introduced as effective components of multimodal analgesia. This study compared the analgesic efficacy of ESPB and TAPA in patients undergoing LC. Methods: A randomized, controlled, double-blinded trial was conducted at the AFCM, Cairo, Egypt, in 2023. Ninety-three patients scheduled for elective LC were assigned to three groups: ESPB (n=31), TAPA (n=31), and a control group receiving general anesthesia with opioids only (n=31). The primary outcome was 24-hour postoperative morphine consumption. Secondary outcomes included time to first analgesic request, intraoperative fentanyl use, postoperative Numerical Rating Scale (NRS) pain scores, and side effects. Results: The time to first analgesic request was significantly longer in the ESPB (7.61 ± 1.26 h) and TAPA (6.39 ± 1.76 h) groups than in the control group (4.97 ± 0.84 h, p<0.001). Both blocks significantly reduced 24-hour morphine use (ESPB: 6.19 ± 1.94 mg; TAPA: 7.32 ± 1.8 mg) and intraoperative fentanyl (ESPB: 9.55 ± 4.49 µg; TAPA: 11.84 ± 5.18 µg) compared with control (9.87 ± 2.28 mg; 25.94 ± 9.2 µg; p<0.001). ESPB showed lower NRS scores than TAPA and control at most time points. Conclusion: Both ESPB and TAPA blocks effectively reduce pain and opioid use after LC, with ESPB providing superior, longer-lasting analgesia. Keywords: Laparoscopic cholecystectomy, Erector Spinae Plane Block, TAPA, postoperative pain, regional anesthesia.

Accurate localization of laser spots is critical in many advanced applications, including optical sensor and communication systems within modern power grids, but is hindered by challenges in quadrant photodetectors (QPDs). These challenges stem particularly from the mismatch between ideal uniform spot models and the practical Gaussian intensity profiles. Furthermore, measurement accuracy is degraded by noise sources such as shot noise, thermal noise, background illumination, and dark current, which are prevalent in the outdoor and high-EMI environments of power systems. This paper presents an integrated approach that models the Gaussian beam distribution and compensates for major noise effects to enhance the reliability of laser alignment for power infrastructure metrology. The mathematical model of light energy on each QPD quadrant is refined, and a noise compensation algorithm is developed to mitigate the impact of dark current and ambient light. A lookup table (LUT)-based calibration is also introduced to convert uniform-spot positions into accurate Gaussian-based equivalents. Experimental and simulation results show that the proposed method dramatically reduces positioning errors from hundreds of micrometers to sub-micrometer levels near the spot center. This work offers crucial insights into the relationship between beam waist radius and detector performance, providing a highly reliable framework for high-precision laser alignment and metrology critical for future smart grid monitoring and maintenance.