Common Initial Symptoms Research Articles

Pediatric cancer mortality: Analyzing early deaths and fatalities in a resource-limited tertiary care context.

Children with suspected cancer may succumb to their bad condition shortly after admission, even before a definitive diagnosis can be reached. We aimed to address the issue of delayed presentation and early deaths among children suspected of having cancer. We analyzed also the types and causes of mortalities across different tumor types. A retrospective review of reports from newly admitted patients between 2006 and 2010 at the pediatric oncology department of the South Egypt Cancer Institute (SECI) was done. Parameters included age, gender, diagnosis, symptoms, the interval between initial symptoms and the first visit to SECI, the duration from admission to death, and the cause of death. Among the 502 patients with confirmed malignancies, 238 (47.4%) succumbed. Causes of death were predominantly treatment-related mortalities (TRM) (66%). Mortalities within hematological malignancies were mainly TRM (81%), whereas solid tumors were primarily disease-related (70%), p <0.0001. The leading causes of TRM was infection (60%). About 5% of patients experienced early death within 48 hours after presenting to SECI. The mean duration from initial symptoms to the first SECI visit was 67 days, and the period from admission to death averaged 27 hours. Common initial symptoms included abdominal swelling (29.6%), or fever (26%). The leading causes of death were respiratory failure (29.6%), tumor lysis syndrome (22%), or septicemia (22%). Delayed presentation leading to early deaths poses a significant obstacle to the successful treatment of childhood cancers. Early diagnosis and improved supportive care are essential to enhancing the overall survival, particularly in patients with hematologigical malignancies.

Nature and impact of symptoms at time of initial presentation for patients with glioblastoma.

In patients diagnosed with glioblastoma (GBM), minimal data exist on the pathway to presentation and the impact of symptoms on survival outcomes. This study aims to detail the symptoms that occur at time of initial presentation, the response to subsequent intervention, and the factors that predict survival in patients managed for GBM. A retrospective audit was performed from established prospective databases in patients managed consecutively with radiation therapy (RT) for GBM between 2016 and 2019. The major endpoint was median overall survival (mOS). Analysis was performed to determine associations with clinical factors including presenting symptom, performance status, tumour site and extent of resection. The level of carer support and objective perception of carer mastery was also assessed. Overall, 182 patients with GBM were eligible for analysis. The majority of patients presented directly to Emergency (52%), with the most common initial presenting symptom being personality change in 23% of patients. The primary symptoms resolved pre-operatively in 47% of patients, with 9% having worse symptoms postoperatively. The mOS was 16.5 months (95% CI: 14.5-18.5). ECOG Scores 0-1 were associated with improved mOS at both initial ECOG (P < 0.001) and ECOG at 6 months (P = 0.006). Recognised Carer Mastery (P = 0.007) but not presence of carer (P = 0.35) was associated with improved mOS. In patients with GBM initial presenting symptoms, level of performance status and role of carer influence clinical outcomes and survival. These findings can assist to guide clinicians and supportive care services to optimise future patient care.

Epidemiology, presentation, management and outcomes of patients with acute epiglottitis - A 10-year retrospective study based on a tertiary hospital in northern China.

This study aimed to explore the new clinical characteristics and trends of acute epiglottitis (AE) in northern China. A retrospective, observational study was conducted on patients diagnosed with AE between January 2014 and December 2023 at a single-center medical institution in northern China. The clinical profiles of patients with AE were investigated. This study encompassed 366 AE patients (M: F = 1.79:1). The average age of the patients was 47.31 ± 13.18 years, and 33.4% patients had comorbidities. Common initial symptoms: sore throat (93.17%), dysphagia (48.09%), fever (10.65%). Dyspnea reported in 14.48%. AE incidence rose annually over a decade, with mild seasonal variations.Laryngoscopy remains the primary means of confirming AE. Almost all patients received intravenous antibiotic therapy, and 98% of them were also treated with corticosteroids. Emergency airway intervention needed in 2.73% (cricothyroidotomy: 0.54%; tracheotomy: 2.19%). Among all patients, 353 (96.44%) had a good prognosis, 1 death (0.27%) from cardiopulmonary arrest during tracheotomy, 1 anoxic encephalopathy (0.27%) after tracheotomy in the emergency room due to intubation failure. The incidence rate of AE is on the rise. Even if airway intervention is rarely required, clinicians must maintain a high degree of vigilance and conduct early identification of risk factors and emergencies that could progress severe cases into life-threatening. Furthermore, the development of safe and efficacious management strategies is crucial to prevent catastrophic complications and safeguard patient lives.

Clinical, myopathological, and genetic features of two Chinese families with Andersen-Tawil syndrome.

To explore the clinical, muscle pathological, and pathogenic gene mutation characteristics of Andersen-Tawil Syndrome (ATS) and enhance the understanding of ATS among clinical practitioners. Retrospective analysis of clinical data and muscle pathology of two ATS families, along with genetic testing for probands and some family members. In Family 1, spanning four generations, four individuals were affected, while Family 2 had two affected individuals across four generations. All six patients in both families experienced onset in childhood, presenting with periodic paralysis, arrhythmias, and craniofacial skeletal abnormalities. In Family 1, the proband's periodic paralysis was more triggered by low temperature and exercise, occurring several times a year, lasting 4-7 days. All three adult patients in Family 1 had a history of hypokalemia, and the frequency and severity of attacks were reduced after regular oral potassium supplement therapy. Two adult females in Family 1 experienced limb weakness triggered by stress, exertion, and premenstrual period, with milder symptoms than the proband. In Family 2, the proband's periodic paralysis typically occurred the day after excessive exertion, with a frequency of approximately 2-3 months. Two years prior, the proband developed arrhythmias without palpitations or chest tightness. The proband's brother experienced intermittent limb weakness during adolescence, remained untreated, and had sudden death at age 40. Physical examination revealed characteristic features in Family 1 and both probands: small mandible, wide eye spacing, and fifth-digit clinodactyly. Four adult patients were shorter in stature, while the growth status of a pediatric patient was indeterminate. Supplementary tests showed a history of hypokalemia during muscle weakness episodes in Family 1, while Family 2 patients had normal potassium levels during episodes. The long exercise tests were positive in both probands. Muscle MRI showed no significant abnormalities, but muscle pathology revealed rimmed vacuoles and tubular aggregates. Genetic testing identified KCNJ2 gene mutations in two probands and some of their family members, with c.407C > T (p.S136F) heterozygous mutation in Family 1 and c.652C > T (p.R218W) heterozygous mutation in Family 2. Among the clinical symptoms of the patients with Andersen-Tawil Syndrome in this study, not everyone exhibits the full triad of signs: periodic paralysis is the most common initial symptom, craniofacial and digit skeletal abnormalities are characteristic signs, and ventricular arrhythmias pose the most serious potential risk. Given that these typical symptoms were observed in 5 out of 6 patients, clinicians should pay special attention to these typical symptoms, and patients with these symptoms should be followed up over time. Muscle biopsy May reveal pathological changes such as tubular aggregates, but genetic testing for KCNJ gene mutations remains a crucial diagnostic criterion for this syndrome.

Imaging Findings in Cardiovascular Involvements of IgG4 Related Disease: A Systematic Review Study.

Immunoglobulin G4-related disease (IgG4-RD) is a fibroinflammatory condition characterized by IgG4-positive plasma cell infiltration that can affect multiple organs, including the cardiovascular system. The diagnosis of IgG4-RD relies on a combination of clinical, serological, radiological, and pathological findings. However, due to the varied and insidious clinical presentations, normal IgG4 levels in a significant percentage of patients, and frequent multi-organ involvement, imaging plays a crucial role in the diagnosis of IgG4-RD. The aim of study is to comprehensively examine the imaging findings in IgG4-related cardiovascular disease for accurate diagnosis and appropriate treatment. A systematic search was conducted across electronic databases, PubMed, Scopus, and Web of Sciences, until 1 September 2023, following PRISMA guidelines by searching major databases for studies reporting detailed cardiovascular imaging findings in IgG4-RD. The search yielded 68 studies (60 case reports, 5 case series, 2 cross-sectional, 1 case-control) with 120 cases of cardiovascular IgG4-RD. Most of the cases were male, averaging 62.8 years. The common initial symptoms were dyspnea and chest pain. The most common imaging finding was vasculopathy, including vessel wall thickening, periarteritits, periaortitis, aortitis, stenosis, ectasia, aneurysm formation, intramural hemorrhage, fistula formation, and dissection, followed by pericardial involvement and mediastinal masses. Case series and cross-sectional studies also showed vasculopathy being the most common finding on various imaging modalities, including angiography and PET/CT, highlighting the complex pathology of IgG4-RD. This study evaluated current IgG4-RD articles, revealing a higher prevalence in men and vasculopathy as the most common cardiovascular complication.

The EBV connection: a severe case of GFAP-A with central hypoventilation unresponsive to IVIG and literature review

PurposeGlial fibrillary acidic protein astrocytopathy (GFAP-A) pathogenesis remains uncertain, with potential viral involvement. More clinical cases are needed to deepen our understanding of this disease, along with the exploration of more effective treatment options to provide clinicians with additional choices.MethodsWe report a severe case of GFAP-A secondary to EBV infection, characterized predominantly by central respiratory failure. Additionally, we conducted a literature review summarizing the characteristics of GFAP-IgG-positive patients associated with EBV infection.ResultsAmong the 13 patients identified, fever (92.3%) and headache (84.6%) were the most common initial symptoms, while urinary dysfunction was universally present in all patients. Over half of the patients with altered consciousness required endotracheal intubation (7/11, 63.6%), with only one individual experiencing complete resolution without any residual sequela. Only two patients (16.7%) displayed the classic feature of periventricular enhancement on neuroimaging, whereas T2-FLAIR hyperintensities were more prevalent. All patients tested positive for GFAP-IgG in CSF, and 91.7% (11/12) had detectable serum GFAP-IgG antibodies. Three patients (23.1%) achieved full recovery solely through antiviral therapy. In patients receiving various immunotherapies, 60% (6/10) still had residual sequelae.ConclusionEBV infection may contribute to the pathogenesis of GFAP-A. GFAP antibody testing is recommended for diagnostic evaluation in cases of central nervous system viral infections presenting with respiratory insufficiency. For severe GFAP-A patients, Protein A immunoadsorption (Protein A IA).

Clinical profiles of community-acquired Pseudomonas aeruginosa infections in children

Objectives: To investigate clinical characteristics, outcomes and antimicrobial resistance of community-acquired Pseudomonas aeruginosa (CAPA) infections in Chinese pediatric patients. Methods: This retrospective study was conducted at 6 tertiary hospitals in China during January 2016 to December 2018. The clinical and microbiological data of CAPA infected hospitalized children in Hainan and in other regions were collected and compared, and the antimicrobial resistance patterns, clinical characteristics and antibiotic therapy were analyzed. Between different groups were compared using the Chi-square test and Mann-Whitney U test. Results: Among 91 patients, 63 cases were males, 28 cases were females, and 74 cases were from Hainan province, 17 cases were from other regians. The age of consultation was 22.5 (5.4, 44.0) months. Twenty-four cases (26%) had underlying diseases. Fever (79 cases (87%)) and cough (64 cases (70%)) were common initial symptoms. Other concomitant symptoms included wheezing 8 cases (9%), diarrhea 3 cases (3%) and vomiting 4 cases (4%). Twenty-eight cases (31%) had organ infections, including pneumonia 22 cases (24%), skin infection 5 cases (5%), meningitis, intra-abdominal infection and upper urinary tract infection each 1 case (1%). The resistance rate of CAPA isolates to cefepime (4% (4/90)), amikacin (1% (1/90)), ciprofloxacin (2% (2/90)) and levofloxacin (1% (1/89)) was low, and to ceftazidime, piperacillin, piperacillin-azobactam, carbapenem was 12% (11/90), 3/16, 18% (10/56) and 6% (5/90), respectively. Antimicrobial combination therapy accounted for 52% (47/91) of empirical therapy and 59% (52/88) of definite therapy. Two cases (2%) were hopeless discharged, and 3 cases (3%) died during hospitalization. The worse prognosis of CAPA infection is significantly different among children in other regions and in Hainan (4/17 vs. 1% (1/74), χ²=9.74, P<0.05). Conclusions: The invasive CAPA-infection has regional difference in incidence and prognosis in China. Clinical symptoms and signs are non-specific. CAPA strains isolated from pediatric patients display low level of resistance to most of the common antipseudomonal antibiotics. The proportion of poor prognostic outcome is lower in Hainan than in other regions.

Microcirculatory dysfunction in hypertrophic cardiomyopathy with chest pain assessed by angiography-derived microcirculatory resistance

Chest pain, a common initial symptom in hypertrophic cardiomyopathy (HCM) patients, is closely linked to myocardial ischemia, despite the absence of significant coronary artery stenosis. This study explored microvascular dysfunction in HCM patients by employing angiography-derived microcirculatory resistance (AMR) as a novel tool for comprehensive assessment. This retrospective analysis included HCM patients with chest pain as the primary symptom and control patients without cardiac hypertrophy during the same period. The AMR was computed through angiography, providing a wire-free and adenosine-free index for evaluating microcirculatory function. Propensity score matching ensured balanced demographics between groups. This study also investigated the correlation between the AMR and clinical outcomes by utilizing echocardiography and follow-up data. After matching, 76 HCM patients and 152 controls were analyzed. While there was no significant difference in the incidence of epicardial coronary stenosis, the AMR of three epicardial coronary arteries was markedly greater in HCM patients. The criterion of an AMR ≥ 250 mmHg*s/m was that 65.7% of HCM patients experienced coronary microvascular dysfunction (CMD). Independent risk factors for CMD included increased left ventricular (LV) wall thickness (OR = 1.209, 95% CI 1.013–1.443, p = 0.036). Furthermore, an AMR_LAD ≥ 250 mmHg*s/m had an increased cumulative risk of the endpoint (log-rank p = 0.023) and was an independent risk factor for the endpoint (HR = 11.64, 95% CI 1.13–120.03, p = 0.039), providing valuable prognostic insights.

Discrepancies of frequent symptoms in licorice‐induced pseudoaldosteronism: A comparison of a systematic case review and the Ministry of Health, Labour and Welfare's manual

AbstractBackgroundLicorice‐induced pseudoaldosteronism has been identified as a side effect of excessive licorice consumption. This condition is often characterized by hypertension, hypokalemia, and hyporeninemic hypoaldosteronism. If left untreated, this condition can lead to severe complications, such as arrhythmia and rhabdomyolysis, which can be life‐threatening. Thus, it is critical to recognize the early symptoms of pseudoaldosteronism to facilitate prompt intervention and effective management. Here, we investigated the frequency of various accompanying symptoms by systematically reviewing case reports of licorice‐induced pseudoaldosteronism not covered in similar studies and comparing findings with the manual on pseudoaldosteronism published by the Ministry of Health, Labour and Welfare (MHLW).MethodsA comprehensive search was conducted using MEDLINE/PubMed to gather relevant human studies published between 1960 and July 2023 and written in English; data focusing on accompanying symptoms were summarized.ResultsThirty‐seven pertinent articles, encompassing 48 case reports (26 females and 1 unreported sex, mean age 64.6 ± 14.6), were identified and scrutinized. The analysis revealed that hypertension was the most prevalent followed by weakness and edema. None of the researched cases reported instances of spasticity or rigidity.DiscussionThe study findings identified hypertension and weakness followed by edema as the predominant symptoms associated with pseudoaldosteronism which is in agreement with the MHLW manual. However, we doubt that spasticity, rigidity, and possibly numbness could be noticed by patients and their families as common initial symptoms outlined in the manual.

Profile of HIV/AIDS Patients with Neurological Manifestations in The Tertiary Referral Hospital in Bali

Background: Neurological manifestations in approximately half of Human Immunodeficiency Virus/Acquired Immunodeficiency Syndrome (HIV/AIDS) patients are related to high morbidity and mortality worldwide. Therefore, there is a need for epidemiological data on HIV/AIDS patients with neurological manifestations in Bali, as an international tourism destination. Objective: This study aimed to describe the clinical profile of neurological manifestations among patients with HIV/AIDS in the tertiary referral hospital for Bali and Nusa Tenggara region. Methods: A descriptive-retrospective study was conducted on HIV/AIDS patients presenting with neurological manifestations hospitalized in the Neurology Department of Prof. Dr. I.G.N.G Ngoerah Hospital Denpasar from January 2018 to December 2021. Results: Among the 227 subjects included in this study, the majority were male (69.9%) and HIV positive newly diagnosed (69.2%). Furthermore, out of 126 subjects who had CD4 data, the majority were with CD4 &lt;200 cells/mm3 (85.7%) and 53.1% were &lt;50 cells/mm3, with ages ranging from 18 to 67 years old, at a median of 36 years old. The most common neurological signs and symptoms found were paresis/paralysis (61.7%), headache (54.6%), decreased consciousness (52.9%), and cranial nerve palsy (52%). Cerebral toxoplasmosis (67.4%) and tuberculous meningoencephalitis (20.3%) were the prevalent opportunistic infections, while the mortality rate was 39.6% with sepsis as the major cause. Conclusions: Neurological manifestations are common initial symptoms in diagnosing HIV infection. Therefore, better awareness and earlier detection are required among people with risk factors of HIV transmission, particularly in groups of young and productive age with signs of immunocompromised condition as well as neurological manifestations.

Clinical Issue of Myasthenia Gravis Related to Immune Checkpoint Inhibitors.

Immune-related adverse events (irAEs) are pivotal in the management of immune checkpoint inhibitors (ICIs) across various human neoplasms. While common irAEs are manageable by oncologists, the detailed features of rare complications related to ICI therapy remain elusive. Among these, immune-related myasthenia gravis (irMG) stands out as a life-threatening disease. Research articles published in English between 2017 and 2023 were identified using the PubMed database. Forty-six relevant research studies were examined to collate information for this review. The incidence of ICI-induced MG was found to be less than 1.0%, with approximately 20-30% of irMG patients presenting with overlap syndrome involving myocarditis and myositis. The detection of acetylcholine receptor antibodies (AChR-Ab) and elevated creatinine kinase (CK) levels proved useful in identifying 50-70% and 60-80% of cases, respectively. However, the utility of muscle-specific kinase antibodies (MuSK-Ab) in detecting irMG was limited due to a low positivity rate (0-5.3%). Ptosis emerged as the most common initial symptom of irMG, with an approximate positivity rate of 80%. Recommended treatment for irMG involves high-dose steroids in conjunction with plasmapheresis or immunoglobulins to mitigate the increased mortality associated with irMG. Early initiation of immunosuppressive therapy is imperative to prevent the worsening of irMG. Furthermore, facilitating a fulfilling social life post-hospitalization is crucial. This review sheds light on the clinical aspects and management strategies pertaining to irMG.

The Etiology of Rapidly Progressive Dementia: A 3-Year Retrospective Study in a Tertiary Hospital in China

Background: Rapidly progressive dementia (RPD), characterized by a rapid cognitive decline leading to dementia, comprises a diverse range of disorders. Despite advancements in diagnosis and treatment, research on RPD primarily focuses on Western populations. Objective: This study aims to explore the etiology and demographics of RPD in Chinese patients. Methods: We retrospectively analyzed 323 RPD inpatients at Huashan Hospital from May 2019 to March 2023. Data on sociodemographic factors, epidemiology, clinical presentation, and etiology were collected and analyzed. Results: The median onset age of RPD patients was 60.7 years. Two-thirds received a diagnosis within 6 months of symptom onset. Memory impairment was the most common initial symptom, followed by behavioral changes. Neurodegenerative diseases accounted for 47.4% of cases, with central nervous system inflammatory diseases at 30.96%. Autoimmune encephalitis was the leading cause (16.7%), followed by Alzheimer’s disease (16.1%), neurosyphilis (11.8%), and Creutzfeldt-Jakob disease (9.0%). Alzheimer’s disease, Creutzfeldt-Jakob disease, and frontotemporal dementia were the primary neurodegenerative causes, while autoimmune encephalitis, neurosyphilis, and vascular cognitive impairment were the main non-neurodegenerative causes. Conclusions: The etiology of RPD in Chinese patients is complex, with neurodegenerative and non-neurodegenerative diseases equally prevalent. Recognizing treatable conditions like autoimmune encephalitis and neurosyphilis requires careful consideration and differentiation.

Primary Malignant Melanoma of The Endocervix Uteri and Outpatient Hysteroscopy as a Diagnostic Tool: Case Report and Literature Overview.

Mucosal malignant melanoma has a low incidence and only 2% are diagnosed in the gynecological tract. Diagnosis of primary cervical malignant melanoma is often challenging. The clinical presentation mimics other malignant cervical tumors, usually with abnormal bleeding or discharge. Cervical screening tests, such as cytology, often fail to detect malignant melanomas because of the rarity of the disorder, and histological evaluation of lesions is of paramount importance. The treatment is often based on regimens used for cutaneous malignant melanoma. We present the first case in the literature of primary malignant melanoma of the endocervix diagnosed by outpatient hysteroscopy and we have performed a narrative review of the literature on PubMed, Scopus and Web of Science from 1980 to December 2023, identifying 137 cases. The most common initial symptom was vaginal bleeding in 82.8% of cases, and 84.8% of patients were menopausal at the time of diagnosis. The first diagnostic modality was biopsy in 67.7%; 90% of patients underwent surgery and 64.5% of the deaths occurred within the first 12 months after diagnosis. Primary malignant melanoma of the cervix is extremely rare and difficult to diagnose at an early stage which is due to the aggressiveness of the disease and the non-specificity of the symptoms. To improve survival, early diagnosis is essential and hysteroscopy could be a useful tool in achieving it. It is crucial to increase the attention of gynecologists on primary malignant melanoma of the cervix to also perform a diagnostic hysteroscopy in case of doubtful symptoms.

Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children.

Identify the genotype and clinical characteristics of mitochondrial epilepsy caused by nDNA mutations in Chinese children and explore the treatment and prognosis of the condition. This is a retrospective cohort study conducted at a single center, including patients diagnosed with an established nDNA mutation-associated primary mitochondrial disease between October 2012 and March 2023 who also met the practical clinical definition of epilepsy published by the ILAE in 2014. Of the 58 patients identified, 74.1% had an onset before the age of 1year and 63.8% had seizures as their initial symptom. Developmental and epileptic encephalopathy (DEE) (31%) are the most common phenotypes. The most frequently observed MRI abnormalities include abnormal signal asymmetry in the bilateral basal ganglia and/or brainstem (34.7%), as well as brain atrophy, myelin sheath dysplasia, and corpus callosum dysplasia (32.7%). Of the 40 patients followed, seizure treatment was effective in 18 of the cases, while it was ineffective in 22. The mitochondrial DNA depletion syndrome (MDS) was found to be more difficult to control seizures than other phenotypes (P < 0.05). Additionally, the MDS was associated with a significantly higher mortality rate compared to alternative phenotypes (P < 0.05). The onset of mitochondrial epilepsy due to nDNA mutations is early and seizures are the most common initial symptom. DEE is the most common phenotype. Characteristic MRI abnormalities in the brain may be helpful in the diagnosis of primary mitochondrial disease. People with MDS typically face challenges in seizure control and have a poor prognosis.

Delayed postoperative neurological deficits from scoliosis correction: a case series and systematic review on clinical characteristics, treatment, prognosis, and recovery.

This study was designed to investigate the clinical features, treatment modalities, and risk factors influencing neurological recovery in patients who underwent scoliosis correction with delayed postoperative neurological deficit (DPND). Three patients with DPND were identified from 2 central databases for descriptive analysis. Furthermore, all DPND cases were retrieved from the PubMed and Embase databases. Neurological function recovery was categorized into complete and incomplete recovery groups based on the American Spinal Injury Association (ASIA) impairment scale. Two patients were classified as type 3, and one was classified as type 2 based on the MRI spinal cord classification. Intraoperative neurophysiological monitoring (IONM) was consistently negative throughout the corrective procedure, and intraoperative wake-up tests were normal. The average time to DPND development was 11.8h (range, 4-18h), and all three patients achieved complete recovery of neurological function after undergoing revision surgery. A total of 14 articles involving 31 patients were included in the literature review. The mean time to onset of DPND was found to be 25.2h, and 85.3% (29/34) of patients experienced DPND within the first 48h postoperatively, with the most common initial symptoms being decreased muscle strength and sensation (26 patients, 83.9%). Regarding neurological function recovery, 14 patients were able to reach ASIA grade E, while 14 patients were not able to reach ASIA grade E. Univariate analysis revealed that preoperative diagnosis (p = 0.004), operative duration (p = 0.017), intraoperative osteotomy method (p = 0.033), level of neurological deficit (p = 0.037) and deficit source (p = 0.0358) were significantly associated with neurological outcomes. Furthermore, multivariate regression analysis indicated a strong correlation between preoperative diagnosis (p = 0.003, OR, 68.633; 95% CI 4.299-1095.657) and neurological prognosis. Our findings indicate that spinal cord ischemic injury was a significant factor for patients experiencing DPND and distraction after corrective surgery may be a predisposing factor for spinal cord ischemia. Additionally, it is important to consider the possibility of DPND when limb numbness and decreased muscle strength occur within 48h after corrective scoliosis surgery. Moreover, emergency surgical intervention is highly recommended for DPND caused by mechanical compression factors with a promising prognosis for neurological function, emphasizing the importance of taking into account preoperative orthopedic diagnoses when evaluating the potential for neurological recovery.

Epidemiology of primary brain tumor among adolescents and adults in Palestine: a retrospective study from 2018 to 2023

BackgroundsPrimary brain tumors (PBTs) are uncommon, but they significantly increase the risk of disability and death. There is a deficiency of data concerning the epidemiology and anatomical distribution of PBTs among adults in Palestine.MethodsA retrospective descriptive study in which data were collected from the clinical reports of Palestinian patients diagnosed with PBTs at Al-Makassed Hospital during the period (2018–2023).ResultsIn Palestinian adolescents and adults, the incidence rate of PBTs was 3.92 per 100,000 person-years. Glioblastoma (18.8%) was the most common type identified, and it was more common in males. Non-malignant tumors were more common than malignant tumors (2.41 vs. 1.52 per 100,000). The mortality rate from PBTs was 4.8%. The most common initial symptom was headaches, and it occurred more with non-malignant tumors (57.28% vs. 42.72%, p-value < 0.001). Cerebral meninges (26.3%) were the most common location for primary brain tumors (p-value < 0.001).ConclusionThis is the first study of primary brain tumor epidemiology in Palestine. The overall incidence of PBTs in Palestinian adolescents and adults was 3.96 per 100,000, which was lower than the incidence rate of primary brain tumors worldwide. More studies on the epidemiology and distribution of PBTs in Palestine are recommended.

#2456 Real world outcomes of Fabry disease in Italian excellence centers: the ground study

Abstract Background and Aims Fabry disease (FD) is an X-linked lysosomal storage disorder with an estimated prevalence from 1:1368 to 1:8882, caused by galactosidase alpha gene (GLA) mutations, resulting in renal, cardiac and central nervous system involvement with significant morbidity and mortality in both sexes. Treatment includes enzyme replacement therapies (ERTs) and chaperone therapy. A better understanding of this disorder from its diagnostic journey, along with the impact of patient characteristics and available treatments on disease prognosis are relevant topics for physicians dealing with FD. The Global buRden and treatment trajectOries in Italian patients with Fabry disease: a retrospective longitUdinal and cross-sectioNal study–GROUND describes a cohort of FD Italian patients, addressing the unmet needs arising from this condition while providing a real-world picture from which further research insights can be derived. Methods This was a retrospective, longitudinal and cross-sectional study. Data about adult patients of either sex living or deceased with a documented FD diagnosis and at least 3 years of follow-up or early occurrence of severe/fatal outcomes were collected. Occurrence of severe/fatal events (renal, cardiac, cerebral events, death) from birth to last follow-up visit was the composite primary outcome. Other outcomes assessed were disease progression measured by FAbry STabilization indEX (FASTEX), occurrence of clinically significant events/FD related symptoms (i.e., renal function decline, detection/worsening of left ventricular hypertrophy (LVH), lysoGb3 increase, new FD symptoms), time from first manifestation to diagnosis, treatment trajectories. Results From June 2021 to June 2022, 199 patients, 73 males and 126 females, including 169 classic and 30 late-onset phenotypes, were enrolled at 8 Italian centers. Median time from onset of FD symptoms to diagnosis was 60.3 months [95% confidence interval (IC) 38.8-89.7], with a median of 0.64 years (range 0-19.29) from diagnosis to beginning of treatment. Chronic pain and angiokeratomas were the most common initial symptoms (18.1% and 13.1% of patients respectively); acroparesthesia and abdominal pain were reported in 12.5% of patients and LVH in 8.5%. Among the 143 missense/nonsense mutations identified, 14 were Variants of Uncertain Significance (VUS). Overall, 82% of patients were treated with 1 FD specific therapy, of whom 24% switched at least one treatment, while 5% definitively stopped. The composite primary outcome was experienced by 31.7% of patients for a total of 85 severe/fatal events. Specifically, 7.5% (n = 15, all treated) patients experienced a renal event; 20.6% of patients had a cardiac event (n = 41, 38/41 treated); 11.1% (n = 22, all but 1 treated) of subjects experienced a cerebral event; fatal events occurred in 7 patients of whom 1 was untreated. In addition, 88.9% of patients reported at least one clinically significant event, among which detection/worsening of LVH was the most common (41.2%). Estimated Glomerular Filtration rate (eGFR) slopes in the last 1-3 years of follow up were −2.07 [Standard Error (SE): 1.38] and −0.76 (SE: 1.75) in classic males and females, respectively. Long-term (i.e., from diagnosis to last available measure) FASTEX identified 31.1% of patients as being unstable. Conclusions In this real-world Italian FD cohort, patients were promptly treated after diagnosis according to existing guidelines, following expert evaluation. Nevertheless, severe clinical events occurred in about 30% of the cohort, mainly among classic treated males, revealing persistent unmet needs such as a better assessment of determinants of disease progression and outcomes, as well as response to treatment and further insights on the potential benefit of new therapeutic options.

Non-intestinal-type adenocarcinoma of the nasal cavity and paranasal sinuses: an analysis of clinical characteristics and prognosis.

Non‑intestinal adenocarcinoma of the nasal cavity and paranasal sinuses (non‑ITAC) is a heterogeneous tumour that has rarely been reported in previous studies. We compared and analysed the symptoms, radiographic and pathological features, treatment methods, and prognosis of patients with low-grade (G1) and high-grade (G3) tumours. This was a retrospective study included 22 patients with pathologically confirmed non-ITAC of the nasal cavity and paranasal sinuses who were treated between January 2008 and December 2021 at a single centre. Of these, 11patients had G1 tumours, and 11patients had G3 tumours. Clinicopathological features, treatment methods, and survival outcomes were analysed. The median follow-up period was 48.5months. Nasal congestion was the most common initial symptom, and the nasal cavity was the most frequently involved site. For G1 tumours, the main treatment was simple surgery, 1 and 3‑year overall survival (OS) rates were 100 and 88.9%, while the 1 and 3‑year local control (LC) rates were 100 and 100%, respectively. For G3 tumours, the main treatments were surgery combined with radiotherapy and/or chemotherapy,1 and 3‑year OS rates were 72.7 and 72.7%, while the 1 and 3‑year LC rates were 100 and 90.91%, respectively. G3 tumours was associated with significantly shorter overall survival than G1 tumours (P = 0.035). Patients with stage III-IV showed shorter overall survival compared to stage I-II patients (P = 0.035). Non-ITAC of the nasal cavity and paranasal sinuses may frequently occur in the nasal cavity. The main treatment modality is surgery, supplemented by radiotherapy and chemotherapy. Pathological grade and tumour stage were poor prognostic factors for the disease.

Long term clinical and radiological outcomes following surgical treatment of symptomatic cranial arachnoid cyst: A population based consecutive cohort study

ObjectiveSymptomatic intracranial arachnoid cysts are treated mainly through surgical resection, endoscopic fenestration, or by implanting cystoperitoneal (CP) shunt. However, the use of a specific technique remains controversial. The purpose of this study is to discuss these surgical modalities in symptomatic patients with intracranial arachnoid cysts (ACs) and investigate which has better outcomes and less complications by comparing variable preoperative and postoperative parameters. MethodsAn analysis of thirty-nine symptomatic patients who underwent intracranial arachnoid cyst surgery in the department of neurosurgery between 2009 and 2023 was performed. Patients were retrospectively compared based on age group, gender, anatomical location, laterality, type of intervention, clinical and volumetric changes, postoperative complications and outcome. ResultsOf the 39 patients, 20 patients (51.28 %) received CP shunt. Eleven patients (28.2 %) underwent endoscopic fenestration, and 8 patients (20.5 %) had surgical resection. The age at the time of first operation ranged from 1 month to 59.9 years (mean age: 16.8 years), and the pediatric patients were 25 (64.1 %). The most common initial symptom was headache which was observed in 19 patients (48.7 %), followed by seizure in 12 patients (30.8 %), vomiting in 11 patients (28.2 %), visual dysfunction in 8 patients (20.5 %), drowsiness in 8 patients (20.5 %), visual symptoms in 8 patients (20.5 %), cognitive impairment in 4 patients (10.3 %), focal neurological deficits in 3 patients (7.7 %), and cranial nerve involvement in 1 patient (2.6 %). 24 patients (61.5 %) showed improvement while in 15 patients (38.5 %) the symptoms persisted or worsened. Postoperatively, patients were followed up for an average of one year. The highest improvement rate was noted in endoscopic fenestration with 9 improved patients (81.8 %), followed by surgical resection with 5 symptom-free patients (62.5 %). The worst outcomes were seen in cystoperitoneal shunt with only half of the patients were relieved (50 %). Complications developed in 2 patients (25 %) who underwent surgical resection, 5 patients (45.5 %) who had endoscopic fenestration, and 13 patients (65 %) who had cystoperitoneal shunting. ConclusionEndoscopic fenestration has the highest improvement rate, the lowest serious complications along with being the least invasive technique. These features make it the optimal modality in treatment of ACs. Surgical resection or cystoperitoneal shunt can be considered as secondary techniques when patients report unchanged or worsening symptoms.

Heatstroke: a multicenter study in Southwestern China.

An increase in Heatstroke cases occurred in southwest China in 2022 due to factors like global warming, abnormal temperature rise, insufficient power supply, and other contributing factors. This resulted in a notable rise in Heatstroke patients experiencing varying degrees of organ dysfunction. This descriptive study aims to analyze the epidemiology and clinical outcomes of Heatstroke patients in the ICU, providing support for standardized diagnosis and treatment, ultimately enhancing the prognosis of Heatstroke. A retrospective, multicenter, descriptive analysis was conducted on Heatstroke patients admitted to ICUs across 83 hospitals in southwest China. Electronic medical records were utilized for data collection, encompassing various aspects such as epidemiological factors, onset symptoms, complications, laboratory data, concurrent infections, treatments, and patient outcomes. The dataset primarily comprised classic heatstroke, with 477 males (55% of total). The patient population had a median age of 72 years (range: 63-80 years). The most common initial symptoms were fever, mental or behavioral abnormalities, and fainting. ICU treatment involved respiratory support, antibiotics, sedatives, and other interventions. Among the 700 ICU admissions, 213 patients had no infection, while 487 were diagnosed with infection, predominantly lower respiratory tract infection. Patients presenting with neurological symptoms initially (n = 715) exhibited higher ICU mortality risk compared to those without neurological symptoms (n = 104), with an odds ratio of 2.382 (95% CI 1.665, 4.870) (p = 0.017). In 2022, the majority of Heatstroke patients in southwest China experienced classical Heatstroke, with many acquiring infections upon admission to the ICU. Moreover, Heatstroke can result in diverse complications.