This study aimed to develop a predictive model for the early identification of patients at risk of sepsis, using routinely available clinical information and laboratory test results collected during the initial phase of patient care. Methods: This retrospective analysis included electronic medical records of 22,400 adult patients who presented with suspected infection to a tertiary care university hospital in Korea between January 2013 and May 2024. Patients were classified according to Systemic Inflammatory Response Syndrome (score ≥ 2) or Quick Sequential Organ Failure Assessment (score ≥ 2), in combination with sepsis-related International Classification of Diseases, 10th revision codes. Four different machine learning models were trained and validated using five-fold cross-validation. In addition, Shapley additive explanations analysis was performed to interpret the contribution and clinical relevance of key predictive variables. Results: Among the evaluated models, CatBoost demonstrated the strongest predictive performance. Notably, platelet distribution width, alveolar–arterial oxygen difference, procalcitonin, and the arterial/alveolar oxygen ratio consistently emerged as major predictors. Importantly, several variables that did not reach statistical significance in univariate analysis nevertheless contributed substantially to overall model performance, highlighting the importance of complex, multidimensional interactions among clinical factors. Conclusion: These findings indicate that a model based on simple, routinely collected clinical data can achieve high predictive accuracy and strong generalizability. Such a tool may support early clinical decision-making by multidisciplinary teams, including nurses, across diverse real-world care settings. Further prospective studies are warranted to validate its clinical utility and to assess its potential effects on patient outcomes.

OBJECTIVES: To investigate the molecular epidemiology of children with phenylketonuria (PKU) in Gansu, China, providing foundational data for intervention strategies. METHODS: A retrospective analysis was conducted on 1 159 PKU families who attended Gansu Provincial Maternity and Child Care Hospital from January 2012 to December 2024. Sanger sequencing, multiplex ligation-dependent probe amplification, whole exome sequencing, and deep intronic variant analysis were used to analyze the PAH gene. RESULTS: For the 1 159 children with PKU, 2 295 variants were identified in 2 318 alleles, resulting in a detection rate of 99.01%. The detection rates were 100% (914/914) in 457 classic PKU families, 99.45% (907/912) in 456 mild PKU families, and 96.34% (474/492) in 246 mild hyperphenylalaninemia families. The 2 295 variants detected comprised 208 distinct mutation types, among which c.728G>A (14.95%, 343/2 295) had the highest frequency, followed by c.611A>G (4.88%, 112/2 295) and c.721C>T (4.79%, 110/2 295). The cumulative frequency of the top 23 hotspot variants reached 70.28% (1 613/2 295), and most variant alleles were detected in exon 7 (29.19%, 670/2 295). CONCLUSIONS Deep intronic variant analysis of the PAH gene can improve the genetic diagnostic rate of PKU. The development of targeted detection kits for PAH hotspot variants may enable precision screening programs and enhance preventive strategies for PKU.
Humans ; Phenylketonurias/epidemiology* ; Female ; Male ; Retrospective Studies ; Phenylalanine Hydroxylase/genetics* ; Mutation ; Child, Preschool ; China/epidemiology* ; Child ; Infant

Ischemic monomelic neuropathy (IMN) is an uncommon complication of arteriovenous fistula (AVF) surgery that presents with pain, motor weakness, and sensory changes without critical ischemia. This report describes a rare case of successful IMN treatment after AVF surgery. A 61-year-old man with diabetic end-stage kidney disease was admitted for left brachiocephalic AVF surgery. Postoperatively, the patient complained of pain, motor weakness, and numbness in the left hand. However, the radial pulse remained palpable, and the overlying skin remained intact. A nerve conduction study above the wrist revealed reduced compound muscle action potential (CMAP) of the left ulnar nerve and no CMAP of the left median nerve. This study also showed the absence of sensory amplitude in both the left median and left ulnar nerves. Therefore, the patient was diagnosed with IMN. Proximalization of the arterial inflow surgery was performed to redistribute blood flow while maintaining the AVF. The patient’s neurological symptoms resolved postoperatively. Various conditions can cause hand pain after AVF surgery; however, IMN has rarely been reported. A multidisciplinary approach is needed to avoid this rare complication in patients presenting with hand pain after AVF surgery.

Autism spectrum disorder involves challenges in social communication and restricted, repetitive behaviors. Historically, males have received autism diagnoses at comparatively high rates, prompting an underrepresentation of females in research and an incomplete understanding of sex-specific symptom presentations and comorbidities. This review examines sex differences in the prevalence of common comorbidities of autism to inform tailored clinical practices. These conditions include attention deficit hyperactivity disorder, anxiety disorders, conduct disorder, depression, epilepsy, intellectual disability, and tic disorders. Attention deficit hyperactivity disorder is prevalent in both sexes; however, females may more frequently exhibit the inattentive subtype. Anxiety disorders display inconsistent sex differences, while conduct disorder more frequently impacts males. Depression becomes more common with age; some studies indicate more pronounced symptoms in adolescent girls, while others suggest greater severity in males. Epilepsy is more prevalent in females, especially those with intellectual disabilities. Despite displaying a male predominance, intellectual disability may exacerbate the severity of autism to a greater degree in females. No clear sex differences have been found regarding tic disorders. Overall, contributors to sex-based differences include biases stemming from male-centric diagnostic tools, compensatory behaviors like camouflaging in females, genetic and neurobiological differences, and the developmental trajectories of comorbidities. Recognizing these factors is crucial for developing sensitive diagnostics and sex-specific interventions. Inconsistencies in the literature highlight the need for longitudinal studies with large, diverse samples to investigate autism comorbidities across the lifespan. Understanding sex differences could facilitate earlier identification, improved care, and personalized interventions, thus enhancing quality of life for individuals with autism.

Ischemic monomelic neuropathy (IMN) is an uncommon complication of arteriovenous fistula (AVF) surgery that presents with pain, motor weakness, and sensory changes without critical ischemia. This report describes a rare case of successful IMN treatment after AVF surgery. A 61-year-old man with diabetic end-stage kidney disease was admitted for left brachiocephalic AVF surgery. Postoperatively, the patient complained of pain, motor weakness, and numbness in the left hand. However, the radial pulse remained palpable, and the overlying skin remained intact. A nerve conduction study above the wrist revealed reduced compound muscle action potential (CMAP) of the left ulnar nerve and no CMAP of the left median nerve. This study also showed the absence of sensory amplitude in both the left median and left ulnar nerves. Therefore, the patient was diagnosed with IMN. Proximalization of the arterial inflow surgery was performed to redistribute blood flow while maintaining the AVF. The patient’s neurological symptoms resolved postoperatively. Various conditions can cause hand pain after AVF surgery; however, IMN has rarely been reported. A multidisciplinary approach is needed to avoid this rare complication in patients presenting with hand pain after AVF surgery.

Autism spectrum disorder involves challenges in social communication and restricted, repetitive behaviors. Historically, males have received autism diagnoses at comparatively high rates, prompting an underrepresentation of females in research and an incomplete understanding of sex-specific symptom presentations and comorbidities. This review examines sex differences in the prevalence of common comorbidities of autism to inform tailored clinical practices. These conditions include attention deficit hyperactivity disorder, anxiety disorders, conduct disorder, depression, epilepsy, intellectual disability, and tic disorders. Attention deficit hyperactivity disorder is prevalent in both sexes; however, females may more frequently exhibit the inattentive subtype. Anxiety disorders display inconsistent sex differences, while conduct disorder more frequently impacts males. Depression becomes more common with age; some studies indicate more pronounced symptoms in adolescent girls, while others suggest greater severity in males. Epilepsy is more prevalent in females, especially those with intellectual disabilities. Despite displaying a male predominance, intellectual disability may exacerbate the severity of autism to a greater degree in females. No clear sex differences have been found regarding tic disorders. Overall, contributors to sex-based differences include biases stemming from male-centric diagnostic tools, compensatory behaviors like camouflaging in females, genetic and neurobiological differences, and the developmental trajectories of comorbidities. Recognizing these factors is crucial for developing sensitive diagnostics and sex-specific interventions. Inconsistencies in the literature highlight the need for longitudinal studies with large, diverse samples to investigate autism comorbidities across the lifespan. Understanding sex differences could facilitate earlier identification, improved care, and personalized interventions, thus enhancing quality of life for individuals with autism.

Autism spectrum disorder involves challenges in social communication and restricted, repetitive behaviors. Historically, males have received autism diagnoses at comparatively high rates, prompting an underrepresentation of females in research and an incomplete understanding of sex-specific symptom presentations and comorbidities. This review examines sex differences in the prevalence of common comorbidities of autism to inform tailored clinical practices. These conditions include attention deficit hyperactivity disorder, anxiety disorders, conduct disorder, depression, epilepsy, intellectual disability, and tic disorders. Attention deficit hyperactivity disorder is prevalent in both sexes; however, females may more frequently exhibit the inattentive subtype. Anxiety disorders display inconsistent sex differences, while conduct disorder more frequently impacts males. Depression becomes more common with age; some studies indicate more pronounced symptoms in adolescent girls, while others suggest greater severity in males. Epilepsy is more prevalent in females, especially those with intellectual disabilities. Despite displaying a male predominance, intellectual disability may exacerbate the severity of autism to a greater degree in females. No clear sex differences have been found regarding tic disorders. Overall, contributors to sex-based differences include biases stemming from male-centric diagnostic tools, compensatory behaviors like camouflaging in females, genetic and neurobiological differences, and the developmental trajectories of comorbidities. Recognizing these factors is crucial for developing sensitive diagnostics and sex-specific interventions. Inconsistencies in the literature highlight the need for longitudinal studies with large, diverse samples to investigate autism comorbidities across the lifespan. Understanding sex differences could facilitate earlier identification, improved care, and personalized interventions, thus enhancing quality of life for individuals with autism.

Autism spectrum disorder involves challenges in social communication and restricted, repetitive behaviors. Historically, males have received autism diagnoses at comparatively high rates, prompting an underrepresentation of females in research and an incomplete understanding of sex-specific symptom presentations and comorbidities. This review examines sex differences in the prevalence of common comorbidities of autism to inform tailored clinical practices. These conditions include attention deficit hyperactivity disorder, anxiety disorders, conduct disorder, depression, epilepsy, intellectual disability, and tic disorders. Attention deficit hyperactivity disorder is prevalent in both sexes; however, females may more frequently exhibit the inattentive subtype. Anxiety disorders display inconsistent sex differences, while conduct disorder more frequently impacts males. Depression becomes more common with age; some studies indicate more pronounced symptoms in adolescent girls, while others suggest greater severity in males. Epilepsy is more prevalent in females, especially those with intellectual disabilities. Despite displaying a male predominance, intellectual disability may exacerbate the severity of autism to a greater degree in females. No clear sex differences have been found regarding tic disorders. Overall, contributors to sex-based differences include biases stemming from male-centric diagnostic tools, compensatory behaviors like camouflaging in females, genetic and neurobiological differences, and the developmental trajectories of comorbidities. Recognizing these factors is crucial for developing sensitive diagnostics and sex-specific interventions. Inconsistencies in the literature highlight the need for longitudinal studies with large, diverse samples to investigate autism comorbidities across the lifespan. Understanding sex differences could facilitate earlier identification, improved care, and personalized interventions, thus enhancing quality of life for individuals with autism.

Ischemic monomelic neuropathy (IMN) is an uncommon complication of arteriovenous fistula (AVF) surgery that presents with pain, motor weakness, and sensory changes without critical ischemia. This report describes a rare case of successful IMN treatment after AVF surgery. A 61-year-old man with diabetic end-stage kidney disease was admitted for left brachiocephalic AVF surgery. Postoperatively, the patient complained of pain, motor weakness, and numbness in the left hand. However, the radial pulse remained palpable, and the overlying skin remained intact. A nerve conduction study above the wrist revealed reduced compound muscle action potential (CMAP) of the left ulnar nerve and no CMAP of the left median nerve. This study also showed the absence of sensory amplitude in both the left median and left ulnar nerves. Therefore, the patient was diagnosed with IMN. Proximalization of the arterial inflow surgery was performed to redistribute blood flow while maintaining the AVF. The patient’s neurological symptoms resolved postoperatively. Various conditions can cause hand pain after AVF surgery; however, IMN has rarely been reported. A multidisciplinary approach is needed to avoid this rare complication in patients presenting with hand pain after AVF surgery.