Annals of Medicine and Surgery最新文献

{"title":"Risk factors of mortality among heart failure patients in Jordan: the Jordanian Heart Failure Registry (JoHFR).","authors":"Kais Al-Balbissi, Akram Al-Saleh, Hanna Al-Makhamreh, Hadi Abu-Hantash, Ahmad Toubasi, Farah Albustanji, Yazan Y Obaid, Hind Abu Tawileh, Sarah Al-Qalalweh, Mohammad Y Mahmoud, Louis Hobeika, Toqa Awaisheh, Mahmoud Izraiq","doi":"10.1097/MS9.0000000000003255","DOIUrl":"https://doi.org/10.1097/MS9.0000000000003255","url":null,"abstract":"<p><strong>Background: </strong>Heart failure is one of the most common medical burdens facing the healthcare system worldwide. Based on our knowledge, only two heart failure registries have been conducted in the Middle East. Therefore, we decided to conduct this heart failure registry to investigate the follow-up results of patients with both acute and chronic heart failure in Jordan.</p><p><strong>Methods: </strong>This study is a prospective observational multicenter national registry encompassing 21 health institutes in Jordan, comprising university hospitals, private hospitals, and private clinics. The criteria of inclusion were patients visiting the cardiology clinic or inpatients who were admitted due to acute decompensated HF. The primary outcome was 30-day mortality.</p><p><strong>Results: </strong>The total number of enrolled patients in the study was 2128, with a total number of deaths during the follow-up of 204. Multivariate analysis demonstrated that smoking (odds ratio [OR] = 3.214; 1.005-5139), positive family history of premature coronary artery disease (OR = 2.686; 1.504-4.798), insulin (OR = 2.300; 1.356-3.899), hyponatremia at presentation (OR = 7.058; 1.698-29.342) and increased left ventricular diameter (OR = 1.009; 1.002-1.016) were significantly associated with higher odds of mortality.</p><p><strong>Conclusion: </strong>Smoking, positive family history of premature coronary artery disease, insulin use, hyponatremia on presentation, and increased left ventricular diameter were associated with patients' mortality. Physicians should monitor these factors among patients to identify patients who are at higher risk of detrimental outcomes.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"87 5","pages":"2659-2667"},"PeriodicalIF":1.7,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12055056/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143952448","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unilateral right thyroid swelling with contralateral left mediastinal mass of benign ectopic thyroid tissue: a rare case report.","authors":"Waseem Sajjad, Hassan Bin Aziz, Pakeezah Tabasum, Syeda Maryam Alam, Serwan Mufti Muttayab, Javed Iqbal","doi":"10.1097/MS9.0000000000002993","DOIUrl":"https://doi.org/10.1097/MS9.0000000000002993","url":null,"abstract":"<p><strong>Introduction and importance: </strong>Ectopic thyroid is a very rare developmental anomaly with difficult diagnostic challenges, especially when located away from its normal anatomical pathway of development and descent. The coexistence of a unilateral thyroid enlargement with a mass in the thoracic region is very rare and can resemble malignancies and tumors complicating the process of diagnosis and management.</p><p><strong>Case presentation: </strong>A 44-year-old female presented with a unilateral right thyroid swelling, with further investigation revealing a left mediastinal mass. Initial imaging and biopsy raised concerns about possible malignancy. However, a surgical biopsy confirmed benign ectopic thyroid tissue. The patient underwent total thyroidectomy and excision of the mediastinal mass, recovering without complications.</p><p><strong>Clinical discussion: </strong>This case reports a rare coexistence of thyroid swelling and ectopic thyroid in the mediastinum. An extensive diagnostic protocol is mandatory to exclude any potential malignancies. Careful surgical management is required for optimal outcomes and the long-term well-being of the patient.</p><p><strong>Conclusion: </strong>This case report emphasizes the significance of considering ectopic thyroid as a differential diagnosis of mediastinal masses. This case report presents information that not only helps to prevent misdiagnosis but also guide on the suitable treatment and management.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"87 5","pages":"2982-2986"},"PeriodicalIF":1.7,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12055109/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143972913","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unusual diagnosis in a Lebanese child with persistent hyper eosinophilia: a case report.","authors":"Mortada Abbass, Lana Joudi, Haidar Khalifeh, Hussein Almasri, Raghida Dhayni","doi":"10.1097/MS9.0000000000003240","DOIUrl":"https://doi.org/10.1097/MS9.0000000000003240","url":null,"abstract":"<p><strong>Introduction and importance: </strong>The differential diagnoses of hypereosinophilia (HE) are diverse and may include parasitic infections, allergic or atopic diseases, and malignancies. The list of differentials for hypereosinophilia is diverse and a comprehensive workup can often be expensive. However, it is essential to identify the underlying cause and treat it rather than treating eosinophilia itself.</p><p><strong>Case presentation: </strong>A 5-year-old male patient was referred to a pediatric hemato-oncologist for concerns of persistent hypereosinophilia, and the absolute eosinophil count (AEC) was greater than 1000 in three recent complete blood count with differentials. The child presented complaining of alternating waxing and waning right and left ankle and knee redness, hotness, pain, and decreased range of motion that occurred every 2 weeks, with associated lack of appetite, fatigue, constipation, and fever reaching 39°C.</p><p><strong>Clinical discussion: </strong>Malignant eosinophilic infiltration of the bone marrow versus a parasitic infection was on top of the differential diagnoses. Presentations of HE suggesting organ system involvement include fever, weight loss, wheezing, cough, dysphagia, vomiting, lack of appetite, diarrhea, arthralgia, and myalgia.</p><p><strong>Conclusion: </strong>Identifying the etiology of persistent hypereosinophilia can be challenging in the pediatric population and can have diverse presentations. The primary focus during initial HE assessment is on evaluating the severity of symptoms and potential organ damage. Major life-threatening diagnoses as malignancies and immune deficiencies must be ruled out first when the AEC is persistently elevated. Parasitic infections should be investigated according to the geographic endemicity.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"87 5","pages":"3023-3026"},"PeriodicalIF":1.7,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12055147/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143954431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Xeroderma pigmentosa associated with spindle cell carcinoma of lung: a case report.","authors":"Bibek Shrestha, Grishma Kandel, Dhiraj Adhikari, Sudip Bastakoti, Abhinash Mishra","doi":"10.1097/MS9.0000000000003261","DOIUrl":"https://doi.org/10.1097/MS9.0000000000003261","url":null,"abstract":"<p><strong>Introduction and importance: </strong>Xeroderma pigmentosum is a rare autosomal recessive genetic disorder characterized by defective nucleotide excision repair, leading to extreme sensitivity to ultraviolet radiation, skin pigmentation changes, and a heightened risk of malignancies. Neurological symptoms, such as seizures and cognitive decline, are observed in 20% of cases. While xeroderma pigmentosa is commonly associated with skin cancers, systemic malignancies like lung carcinoma are exceedingly rare.</p><p><strong>Case presentation: </strong>A 22-year-old male with a history of xeroderma pigmentosa presented with a six-month history of non-productive cough, hemoptysis, intermittent fever, and episodic jerky movements in his upper limb. Examination revealed hypo- and hyperpigmented macules, cachexia, cervical lymphadenopathy, and diminished air entry in the left lung. Blood tests indicated leukocytosis, elevated ESR, and abnormal electrolyte levels. Imaging confirmed a left lower lobe lung mass, and biopsy revealed spindle cell carcinoma with p53 positivity on immunohistochemistry.</p><p><strong>Clinical discussion: </strong>Spindle cell carcinoma is a rare and aggressive subtype of non-small-cell lung cancer, comprising 0.2-0.3% of pulmonary malignancies. Its association with XP is notable, as defective DNA repair mechanisms in xeroderma pigmentosa predispose patients to malignancies driven by p53 mutations. This case emphasizes the need for vigilance for systemic malignancies in XP patients.</p><p><strong>Conclusion: </strong>This is the first reported case of xeroderma pigmentosa associated with spindle cell carcinoma of the lung and focal seizures. It underscores the importance of early recognition and comprehensive surveillance for rare malignancies in XP patients, given their elevated cancer risk. The patient opted for palliative care and was symptomatically managed.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"87 5","pages":"3037-3042"},"PeriodicalIF":1.7,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12055150/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143965004","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Surgical outcomes of isolated coronary artery bypass grafting for acute and chronic coronary artery syndromes: based on Sulaimani cardiac registry.","authors":"Yad Nuaman Othman, Shkar Raouf Saeed, Aram Baram","doi":"10.1097/MS9.0000000000003212","DOIUrl":"https://doi.org/10.1097/MS9.0000000000003212","url":null,"abstract":"<p><strong>Background: </strong>The leading cause of death worldwide is coronary artery disease. Globally, coronary artery bypass grafting is among the most frequently carried out procedures. A number of factors, including but not limited to gender, age, comorbidities, duration of cardiopulmonary bypass time, and surgical urgency, influence the short-term mortality following Coronary Artery Bypass Grafting (CABG).</p><p><strong>Patients and methods: </strong>220 consecutive CABG patients who underwent surgery between January 2022 and December 2022 were included in a prospective comparative analysis carried out at a single location. Convenience sampling was the approach used to obtain the data.</p><p><strong>Results: </strong>60.4 ± 9.4 CI (95% 36-81) years was the average age of all patients. Just 32.3% of participants were smokers. In 15.5% of cases, patients had emergent surgery. There was no discernible correlation between the pre-operative and intraoperative composite score and early morbidities. However, emergency surgery had a significant value of (<i>P</i> = 0.018) in relation to hospital mortality. Additionally, there was a strong correlation between in-hospital mortality and the cross-clamp time and CPB (<i>P</i> = 0.000 and 0.05). Our subjects underwent survival analysis using Kaplan-Meier, with a mean follow-up duration of 50.43 ± 12.36 weeks. Eleven deaths were reported in the first year's results.</p><p><strong>Conclusion: </strong>Survival is significantly impacted by CABG. If at all possible, it is preferable to improve a patient's condition before surgery in order to reduce mortality. The patient's chance of survival is impacted by complications including stroke and extended intubation. In some patients, re-examination should be allowed with a low barrier because the alternative might be fatal.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"87 5","pages":"2547-2554"},"PeriodicalIF":1.7,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12055116/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143957030","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Outcomes of rigid fixation compared to wire closure after median sternotomy a systematic review and meta-analysis.","authors":"Oshan Shrestha, Sujan Bohara, Suchit Thapa Chettri, Ashim Pandey, Utshab Acharya, Ashish Tiwari, Nikesh Bhandari, Prashiddha Bikram Kadel, Kajan Raj Shrestha","doi":"10.1097/MS9.0000000000003259","DOIUrl":"https://doi.org/10.1097/MS9.0000000000003259","url":null,"abstract":"<p><strong>Introduction: </strong>Wire closure is linear and provides a single point of support, while rigid fixation provides two-dimensional support and acts as an additional skeletal brace that holds the two hemisternum together. This property avoids the factors that make the wire closure unstable. This study aims to compare the outcomes of rigid fixation with wire closure to study the difference in recovery time, pain scores, and sternal complications.</p><p><strong>Methods: </strong>Prospective protocol registration was done, and electronic databases were searched without using any search filters. Screening was performed by independent reviewers, and data was extracted from selected studies. Heterogeneity was assessed by the <i>I</i> ² test, the effect model was chosen accordingly, and the effect measure was chosen as appropriate. Forest plots and funnel plots were used to give visual feedback.</p><p><strong>Results: </strong>The rigid fixation group had better healing scores at 3 months (MD: 0.8; 95% CI: 0.59-1.01; <i>n</i> = 376; <i>I</i> ² = 0%; <i>P</i> = <0.00001) and at 6 months (MD: 0.71; 95% CI: 0.23-1.20; <i>n</i> = 376; <i>I</i> ² = 71%; <i>P</i> = 0.004). The rigid fixation group had a better pain score at 3 months and had a lesser incidence of sternal dehiscence. However, rigid fixation group took 2.91 minutes longer for closure and had a 1.02-day shorter hospital stay on average.</p><p><strong>Conclusion: </strong>Rigid fixation was found to be superior to the wire cerclage in regard to shorter hospital stay duration, sternal healing scores, postoperative pain up to 3 months, and sternal dehiscence complication among the obese population.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"87 5","pages":"2948-2962"},"PeriodicalIF":1.7,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12055167/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143973301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Severe hypercalcemia as the initial presentation of renal cell carcinoma: a diagnostic case report.","authors":"Bal Krishna Subedi, Shivani Modi, Naveen Gautam, Anuja Upadhyay, Paul Baek, Daniel Bitetto","doi":"10.1097/MS9.0000000000003252","DOIUrl":"https://doi.org/10.1097/MS9.0000000000003252","url":null,"abstract":"<p><strong>Introduction and importance: </strong>Renal cell carcinoma (RCC) represents 90% of renal malignancies with rising global incidence. While the classic triad includes hematuria, flank pain, and palpable masses, paraneoplastic hypercalcemia occurs in 17% of cases and indicates aggressive disease behavior. This case documents severe hypercalcemia as the initial manifestation of metastatic RCC.</p><p><strong>Case presentation: </strong>A 64-year-old male presented with malaise, bloating, and weight loss. Laboratory evaluation revealed severe hypercalcemia (15.1 mg/dL), suppressed parathyroid hormone (4.2 pg/mL), and elevated parathyroid hormone-related peptide (83 pg/mL). Imaging identified a 5.5 × 5.0 × 5.3 cm left renal mass with metastases to lungs, brain, and possibly bone. Biopsy confirmed metastatic clear-cell RCC. Management comprised aggressive hydration, zoledronic acid, combined immunotherapy (pembrolizumab/lenvatinib), and palliative radiation for cerebral lesions.</p><p><strong>Clinical discussion: </strong>This case illustrates PTHrP-mediated humoral hypercalcemia of malignancy in metastatic RCC. The pathophysiology differs from alternative mechanisms such as calcitriol-mediated hypercalcemia or cytokine-driven osteoclast activation. Diagnostic markers demonstrated a classic humoral pattern with PTHrP elevation (83 pg/mL) and PTH suppression (4.2 pg/mL). The multimodal imaging protocol effectively delineated primary tumor dimensions, vascular invasion, and metastatic burden. Treatment efficacy was objectively measured through serial calcium levels and documented radiographic regression of primary and metastatic lesions. This aligns with recent data on combination immunotherapy (anti-PD-1) with tyrosine kinase inhibition in advanced RCC, supporting current therapeutic paradigms for PTHrP-mediated hypercalcemia in metastatic disease.</p><p><strong>Conclusion: </strong>Prompt recognition of paraneoplastic hypercalcemia in RCC facilitates timely intervention. This case demonstrates the value of comprehensive diagnostic evaluation and multidisciplinary management combining supportive care with targeted immunotherapy. Further prospective studies are needed to optimize therapeutic strategies for patients presenting with metabolic derangements suggestive of underlying malignancy.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"87 5","pages":"3016-3022"},"PeriodicalIF":1.7,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12055066/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143954726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Knowledge mapping of core decompression in osteonecrosis of the femoral head: a bibliometric analysis.","authors":"Tong-Jie Yang, Peng-Peng Wen, Tian-Xin Chen, Guang-Yi Zhang, Ya-Wei Dong, Yi-Fei Sun, Zhi-Jian Huang, Rui Gao, Peng-Cheng Du, Hai-Jun He","doi":"10.1097/MS9.0000000000003110","DOIUrl":"https://doi.org/10.1097/MS9.0000000000003110","url":null,"abstract":"<p><strong>Background: </strong>Osteonecrosis of the femoral head (ONFH), caused by disrupted blood supply leading to bone cell death and joint collapse, remains a critical orthopedic challenge. While core decompression has advanced significantly in ONFH treatment, no bibliometric analysis has mapped its research landscape.</p><p><strong>Method: </strong>We analyzed 854 articles from the Web of Science Core Collection (1986-2023) using VOSviewer, CiteSpace, and bibliometrix.</p><p><strong>Results: </strong>Publications surged from 5.4/year (1986-2001) to 52.3/year (2015-2023), reflecting intensified interest. China (253 articles, 29.6%) and the United States (232, 27.2%) dominated contributions, with Stanford University and Johns Hopkins University as top institutions. International collaborations linked China to the United States, Germany, and England. <i>Clinical Orthopaedics and Related Research</i> was the most cited journal (4708 citations). Keyword analysis revealed emerging hotspots: mesenchymal stem cells (19 occurrences), cell therapy, and angiogenesis. Citation bursts highlighted Mont MA's seminal work (burst strength: 19.67) on joint-preserving strategies and stem cell-enhanced core decompression.</p><p><strong>Conclusion: </strong>This first bibliometric study delineates trends, collaborations, and frontiers in core decompression for ONFH, emphasizing the translational potential of stem cell therapies.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"87 5","pages":"2718-2735"},"PeriodicalIF":1.7,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12055106/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143957701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Obstetric anal sphincter injuries (OASIS) and secondary repair (overlapping sphincteroplasty) in a colorectal unit: case series.","authors":"Abdel Latif Khalifa Elnaim, Michael Pak Kai Wong, Ismail Sagap","doi":"10.1097/MS9.0000000000003253","DOIUrl":"https://doi.org/10.1097/MS9.0000000000003253","url":null,"abstract":"<p><strong>Background: </strong>Obstetric anal sphincter injuries (OASIS) represent a significant complication of childbirth, with global variation in incidence. Although overlapping sphincteroplasty is widely regarded as the gold-standard surgical treatment, managing delayed or inadequately repaired cases remains challenging. Prevention through improved obstetric practices and early recognition of injuries is considered the optimal approach to minimizing the burden of OASIS.</p><p><strong>Objectives: </strong>This case series aimed to evaluate the clinical outcomes of overlapping sphincteroplasty in patients presenting with delayed or missed OASIS.</p><p><strong>Methods: </strong>The study included 12 female patients treated at a single institution over 4 years. All participants had a history of instrumental delivery and episiotomy, with symptoms of incontinence. Preoperative and postoperative assessments were performed using the Wexner scoring system. Overlapping sphincteroplasty was performed in all cases. Follow-up was conducted at 3 months, 6 months, 1 year, and 2 years to evaluate symptomatic improvement and patient satisfaction.</p><p><strong>Results: </strong>The mean age of the participants was 38 years (range: 26-53 years). All patients experienced symptomatic improvement following surgery, with significant reductions in the Wexner scores and high patient satisfaction rates. The mean duration of symptoms before surgery was 14 months (3-36 months). Complications included a 25% rate of superficial wound breakdown and one case of deep wound breakdown requiring secondary repair. Despite this, no incontinence symptoms were reported at the 2-year follow-up.</p><p><strong>Conclusions: </strong>Delayed overlapping sphincteroplasty is an effective surgical approach for treating missed or inadequately repaired OASIS, offering satisfactory outcomes. However, prevention through improved obstetric practices remains an optimal strategy.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"87 5","pages":"2555-2561"},"PeriodicalIF":1.7,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12055178/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143957703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel GLRB mutation in neonatal hyperekplexia with divergent EEG findings: a case series.","authors":"Motaz Tamimi, Majd Oweidat, Hamza Atawneh, Mohammed Alra'e, Bahaa Amr, Mohammad Gharaibiah, Mohammed Aldwaik, Mariam Alqam","doi":"10.1097/MS9.0000000000003258","DOIUrl":"https://doi.org/10.1097/MS9.0000000000003258","url":null,"abstract":"<p><strong>Introduction: </strong>Hereditary hyperekplexia (HKPX) is a rare neurogenetic disorder caused by mutations in glycine signaling genes, such as GLRB. We report two neonates with autosomal recessive HKPX2 due to a novel GLRB mutation (c.1414C>T, p.Arg472*).</p><p><strong>Cases description: </strong>Case 1, a 1-month-old female, presented with severe startle responses and tonic episodes, normal EEG, and no developmental delays. Case 2, a 2-week-old male, showed similar symptoms but with generalized rhythmic ictal fast activity on EEG. Both had consanguineous parents and unremarkable brain MRIs. Whole exome sequencing identified the same homozygous GLRB mutation in both cases. Treatment with Clonazepam and Levetiracetam significantly improved symptoms.</p><p><strong>Discussion: </strong>This is the first report of the c.1414C>T (p.Arg472*) mutation in GLRB, expanding the genetic spectrum of HKPX2. The differing EEG findings highlight the disorder's phenotypic variability. Early diagnosis and treatment are crucial to prevent complications like hypoxia and SIDS.</p><p><strong>Conclusion: </strong>This article reports a novel GLRB mutation in two neonates with autosomal recessive HKPX2, presenting with divergent EEG findings.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"87 5","pages":"2562-2567"},"PeriodicalIF":1.7,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12055157/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143966475","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}