International Journal of Current Medical and Biological Sciences

Approach to The Newborn Infant with Dysmorphic Findings and Genetic Counseling: A Comprehensive Review

2026-04-26T16:09:50+02:00

Background: Congenital anomalies affect approximately 3-5% of live births and are leading causes of perinatal mortality and long-term morbidity. Dysmorphic findings often provide the earliest clinical clues to underlying genetic, chromosomal, or syndromic disorders. This review aims to present a contemporary, evidence-based framework for the evaluation of infants with dysmorphic features, integrating clinical assessment, genetic testing, artificial intelligence tools, and genetic counseling.

Materials and Methods: A comprehensive literature search was conducted in PubMed, Scopus, and Web of Science databases for articles published between 2015 and 2026 using keywords: "dysmorphic features," "congenital anomalies," "newborn," "genetic testing," "CMA," "WES," "WGS," "Face2Gene," and "genetic counseling." Priority was given to systematic reviews, meta-analyses, clinical guidelines, and original research from the last five years. A total of 38 key references were selected for inclusion.

Results: The initial approach to a dysmorphic newborn involves a five-step protocol: stabilization, anomaly screening, detailed history, phenotyping, and stepwise testing. Chromosomal microarray analysis (CMA) is recommended as the first-tier test, with a diagnostic yield of 12-15%. Whole-exome sequencing (WES) adds 20-60% diagnostic yield in CMA-negative cases, and whole-genome sequencing (WGS) is emerging as a comprehensive option. Artificial intelligence tools such as Face2Gene assist in syndrome recognition, with Top-3 accuracy of 77% in diverse populations. Genetic counseling must be provided pre- and post-test, addressing recurrence risks (de novo <1%, autosomal dominant 50%, autosomal recessive 25%, X-linked variable) and variants of uncertain significance (VUS). In populations with high consanguinity, recessive disorders require special attention.

Conclusions: A structured approach combining meticulous phenotyping, early genomic testing, and family-centered genetic counseling significantly improves diagnostic yield and clinical outcomes. CMA remains the first-tier test, followed by trio WES/WGS as needed. AI-assisted facial analysis is a supportive tool, not a replacement for clinical expertise. Newborn genomic screening holds promise but requires careful ethical consideration.

Recurrent Hyperacute Stent Thrombosis in STEMI: MTHFR-Related Hyperhomocysteinemia

2026-05-06T23:52:32+02:00

Hiperakut stent trombozu, ST segment yükselmeli miyokard enfarktüsü (STEMI) olan hastalarda perkütan koroner girişim (PCI) sonrasında dakikalar içinde ortaya çıkabilen nadir ancak yaşamı tehdit eden bir komplikasyondur. Optimal stent implantasyonu ve ikili antiplatelet tedavisine rağmen, genetik ve metabolik anormallikler de dahil olmak üzere prosedürel, farmakolojik ve hasta ile ilgili faktörler nedeniyle gelişebilir. 54 yaşında bir erkek hasta akut anterior STEMI ile başvurdu. Koroner anjiyografi, proksimal sol ön inen arterin tamamen tıkalı olduğunu gösterdi ve başarılı stent implantasyonu koroner akışı yeniden sağladı. İşlemden 15 dakika sonra hastada ventriküler fibrilasyon ve kusma gelişti, bu da oral antiplatelet tedavisinin emiliminin bozulduğunu düşündürdü. Acil tekrarlanan anjiyografi, balon anjiyoplasti ve intrakoroner tirofiban ile tedavi edilen hiperakut stent trombozunu gösterdi. Takip sırasında, tekrarlayan hiperakut stent trombozu meydana geldi ve ek stent implantasyonu ve glikoprotein IIb/IIIa inhibitörü infüzyonu gerektirdi. Laboratuvar değerlendirmesi kalıtsal trombofili ve otoimmün bozuklukları ekarte etti; ancak homozigot MTHFR C677T mutasyonu ile ilişkili şiddetli hiperhomosisteinemi tespit edildi. B vitamini tedavisine başlandı. Bu vaka, hiperakut stent trombozunun çok faktörlü doğasını vurgulamakta ve MTHFR ile ilişkili hiperhomosisteineminin potansiyel rolünü öne çıkarmaktadır. Erken teşhis ve B vitamini takviyesi, tekrarlayan trombotik olayların azaltılmasına yardımcı olabilir.

Evaluation of the Relationship Between Increased HLA Incompatibility Rate and Relapse/Survival in Haploidentical Stem Cell Transplantation

2026-04-13T16:10:42+02:00

Objective Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is a curative treatment option for patients with high-risk hematologic malignancies; however, complications related to HLA mismatch remain a major concern. This study aimed to retrospectively evaluate the relationship between the degree of HLA mismatch and relapse or survival outcomes in patients undergoing haploidentical HSCT.

Materials and Methods 95 patients who underwent haploidentical HSCT between 2013 and 2021 at Florence Nightingale Hospital were retrospectively analyzed. All patients had a minimum follow-up of 12 months. Patients were classified according to the degree of HLA compatibility (4/10–8/10 matched, with antigen or allele mismatch). Associations between patient, donor, and transplant characteristics and outcomes including disease-free survival (DFS), overall survival (OS), relapse, graft failure, and graft-versus-host disease (GVHD) were assessed using the Kaplan–Meier method.

Results Diagnoses included AML(37.9%), ALL(31.6%), CLL(2.1%), MDS(5.3%), NHL(17.9%), and HL (5.3%). Complete remission was achieved in 74.7% of cases. Myeloablative conditioning was administered in 87.4% of patients. Post-transplant cyclophosphamide was the most frequently used GVHD prophylaxis. Acute and chronic GVHD developed in 36.8% and 33.7% of patients, respectively. Relapse occurred in 21.1% of cases. No statistically significant relationship was found between HLA mismatch degree and OS, DFS, relapse, or GVHD incidence.

Conclusion The degree of HLA mismatch showed no significant impact on survival or transplant-related outcomes when evaluated alongside disease, patient, donor, and transplant-related factors. These results support haploidentical HSCT as a safe and feasible alternative for patients lacking a fully HLA-matched donor.

Investigation of NLRP3, Asprosin, And Meteorin-Like Levels in Patients Diagnosed with Diabetes Mellitus

2026-03-09T20:45:14+01:00

Background: This prospective case-control study investigated whether circulating NLRP3, asprosin, and meteorin-like (Metrnl) levels differ between diabetic and non-diabetic adults and evaluated their association with diabetes status.

Materials and Methods: Eighty-eight adults were enrolled, including 44 patients with diabetes mellitus and 44 healthy controls. Plasma NLRP3, asprosin, and Metrnl levels were measured by ELISA. Group comparisons were performed using the Mann-Whitney U test. Correlations were examined by Spearman analysis. Multivariate logistic regression analysis was used to identify variables independently associated with diabetes status. ROC curve analysis was performed for NLRP3 to assess its discriminative performance.

Results: The mean age of the diabetes group was 48.09 ± 12.65 (26-71) years and the average mean age of the control group was 32.15 ± 9.18 (17-58) years. All three biomarkers were significantly higher in the diabetes group than in controls (all p<0.001). In multivariate logistic regression analysis, age (OR 1.21, 95% CI 1.08-1.35, p=0.001), asprosin (OR 1.29, 95% CI 1.06-1.56, p=0.009), and NLRP3 (OR 1.06, 95% CI 1.02-1.10, p=0.001) were independently associated with diabetes status, whereas Metrnl was not. ROC analysis for NLRP3 yielded an AUC of 0.821; the optimal cut-off value was 89.5 pg/mL, with 70.5% sensitivity and 79.5% specificity.

Conclusions: Serum NLRP3 and asprosin were independently associated with diabetes status, while Metrnl was elevated in diabetic individuals but did not remain independently associated after adjustment. These biomarkers, particularly NLRP3, may have potential clinical value in risk stratification and biomarker-based assessment of diabetes-related metabolic inflammation.

Changes in Antibiotic Resistance of Microorganisms Isolated from Urine Cultures Over the Years

2026-01-03T08:44:37+01:00

Background: Inappropriate use of antimicrobial drugs for the treatment of urinary tract infections can lead to antibiotic resistance. This study aimed to determine the distribution of UTI-causing bacteria isolated from urine samples sent to our laboratory and their resistance rates to various antimicrobials.

Materials and Methods: In this retrospective study, urine culture samples from patients aged 18 years and older, sent to the microbiology laboratory of a tertiary education and research hospital between January 2019 and July 2023, were examined. The distribution of pathogens detected in urine cultures, antibiotic resistance rates, and antibiotic resistance patterns of E. coli and Klebsiella species over the years were investigated.

Results: A total of 2676 urine culture samples, sent to our laboratory, were included in the study. Gram-negative pathogens were isolated in 1920 (71.7%) samples. The most frequently isolated pathogens were E. coli, Klebsiella spp., and Enterococcus species. Among E. coli isolates, the antibiotics with the lowest resistance rates were fosfomycin (4.3%), nitrofurantoin (4.8%), and amikacin (5.4%). Among Klebsiella spp. isolates, the lowest resistance rates were observed for imipenem (35.4%), fosfomycin (40.4%), and gentamicin (47.4%). From 2019 to 2023, an increasing resistance to trimethoprim/sulfamethoxazole, ertapenem, piperacillin-tazobactam, and ciprofloxacin was observed in both E. coli and Klebsiella spp. isolates.

Conclusions: For effective UTI treatment, accurate identification of pathogens, performing antibiotic susceptibility testing, and effective surveillance at both hospital and provincial levels are necessary.

Evaluation of Intentional Overdose Neuropsychotropic Medication Ingestion Cases Presenting to The Emergency Room

2026-02-15T10:03:50+01:00

OBJECTIVE: To determine the role of neuropsychotropic (anxiolytic-hypnotic, antipsychotic, antidepressant and antiepileptic) drugs (NPD) in patients with intentional drug overdose (IDO) in the emergency room (ER) and their differences from those not taking NPD (non-NPD).

METHODS: Demographic characteristics, drug groups, time interval between ingestion and ER visit (TI), clinical characteristics, treatment&outcomes of patients (> 18 years) with IDO (January-June 2019) presenting to ER were retrospectively recorded from their files and NPD and non-NPD groups were compared.

RESULTS: The study included 248 patients (F/M=184/64) with a median age of 32 years (min-max: 18-74). 44.6% of the patients received at least one NPD [antidepressants (25%), antipsychotics (10.1%), benzodiazepines (9.7%)]. SSRIs and atypical antipsychotics were the most commonly used sub-groups. There was no significant difference between two groups in terms of age, gender, TI, presence of previous suicide attempts, cardiovascular and respiratory symptoms. In the NPD group, the rates of suicidal ideation, psychiatric comorbidities, use of their own prescribed drug in the attempt, and central nervous system symptoms/findings were significantly higher (p<0.001; p=0.043; p>0.001; p<0.001, respectively). The total number of ingested drug groups, multiple drug group use and gastrointestinal symptoms/findings were significantly higher in the non-NPD group (p=0.009; p=0.013; p=0.005, respectively). Of all patients, the rates of hospitalization (ward/intensive care unit) or referral were 13.3%, and no significant difference was found between the groups.

CONCLUSION: NPD cases accounted for about half of IDO cases, and were more likely to use their own prescribed medication and to have suicidal ideation in the attempt. The majority of patients did not require specific treatment in the ER.

Cervical Cervicis Plane Block Using Ultrasound Guided in Cervical Spine Surgery for Postoperative Pain Management –A randomized Clinical Study

2026-05-17T07:22:53+02:00

Background

Persistent postoperative pain after cervical spine surgery is a common problem in clinical practice even with the advancement of surgical and anesthetic techniques. Our study aims to evaluate the efficacy of 0.25%levobupivacaine with dexmedetomidine versus 0.25% levobupivacaine in cervical cervicis block intra operatively after general anaesthesia and assess the pain postoperatively at 0, 6,12 and 24 hrs.

Material and Methods

This RCT included 66 patients undergoing cervical spine surgery, allocated into Group L (0.25% Levobupivacaine) and Group LD (0.25% Levobupivacaine with 5 mcg Dexmedetomidine). Under general anaesthesia (CCeP) blocks was performed at upper and lower cervical levels using ultrasound guidance, targeting the hyperechoic interfascial plane between the semispinalis cervicis and semispinalis capitis muscles.

Results

Both groups were comparable in baseline demographics (age, gender, ASA, BMI). Hemodynamic and respiratory parameters (HR, SBP, DBP, MAP, SpO₂, EtCO₂) remained stable. Postoperative pain scores (NRS) were consistently lower in Group LD at all time intervals (0, 6, 12, 24 hours), demonstrating superior analgesic efficacy.

Conclusion

In our study, it was observed that in patients undergoing cervical spinal surgery the combination of dexmedetomidine with 0.25% levobupivacaine for an ultrasound guided cervicis-plane block resulted in prolonged duration of post operative analgesia as well as lower and less frequent post-operative pain up to 24 hours without accompanying side effects in terms haemodynamic or respiratory.