Unusually Pronounced and Expansive Mandibular Foramen. A Incidental Radiological Finding / Foramen Mandibular Inusualmente Pronunciado y Expansivo: Un Hallazgo Radiológico Incidental

SUMMARY: The mandibular foramen and its canal are one of the most important structures in the skull, as they solely supply the mandible through their associated nerves and vessels. Many anatomical variations have been reported in the literature until now, and this case report represents a clear-cut appearance of its shape in a panoramic radiograph, which is not mostly seen in normal panoramic radiographs. These factors are of utmost importance when it comes to performing various surgeries and preventing complications due to their varied anatomy, which will allow dentists to create a better treatment plan and provide better treatments without any complications.

El foramen mandibular y su canal son algunas de las estructuras más importantes del cráneo y cara, ya que a través de ellos la mandíbula es inervada por nervios e irrigada por vasos. Hasta ahora, en la literatura consultada, se han informado de numerosas variaciones anatómicas. En este trabajo reportamos la forma y trayecto del foramen y canal mandibular, obtenidos en una radiografía panorámica, que no es observada normalmente en este tipo de radiografía. Los factores anatómicos son de importancia a la hora de realizar las cirugías para prevenir complicaciones debido a su variada anatomía, permitiendo a los odontólogos crear un mejor plan de tratamiento sin ningún tipo de complicaciones.

An R Script to Estimate Which and How Many Landmarks Represent the Most Variable Parts of an Object / Un Script R para Estimar Cuáles y Cuántos Puntos de Referencia Representan las Partes más Variables de un Objeto

SUMMARY: The study of the shape variation in geometric morphometrics has an important limitation known as the Pinocchio effect. The Pinocchio effect produces artifactual variances of the landmarks and implies that it is not possible to know the morphological change structure of an object, other than by dividing the landmark sets and then comparing them. This, however, involves making prior assumptions about the pattern of variation of an object. In this study, we provide a code in R to iterate over a complete set of landmarks and test all possible combinations of landmarks until deliver those landmarks associated with the largest to the smallest morphological changes. We tested this on a sample of 28 landmarks in 143 3D models of human skulls. The results indicated that this process can result in a pooled variance of a subset of landmarks that is an order of magnitude larger than that of several other regions of the skull. This method makes it possible to describe the pattern of variation of any 2D or 3D object represented by fixed landmarks, to distinguish the shape features that have more morphological dispersion, and to avoid any aprioristic assumptions about how the morphological changes of an object behave.

El estudio de la variación de la forma en morfometría geométrica tiene una limitación importante conocida como efecto Pinocho. El efecto Pinocho produce variaciones artefactos de los puntos de referencia e implica que no es posible conocer la estructura del cambio morfológico de un objeto, salvo dividiendo los conjuntos de puntos de referencia y luego comparándolos. Sin embargo, esto implica hacer suposiciones previas sobre el patrón de variación de un objeto. En este estudio, proporcionamos un código en R para iterar sobre un conjunto completo de puntos de referencia y probar todas las combinaciones posibles de puntos de referencia hasta entregar aquellos puntos de referencia asociados con los cambios morfológicos más grandes a los más pequeños. Probamos esto en una muestra de 28 puntos de referencia en 143 modelos 3D de cráneos humanos. Los resultados indicaron que este proceso puede dar como resultado una variación combinada de un subconjunto de puntos de referencia que es un orden de magnitud mayor que el de varias otras regiones del cráneo. Este método permite describir el patrón de variación de cualquier objeto 2D o 3D representado por puntos de referencia fijos, distinguir las características de forma que tienen más dispersión morfológica y evitar suposiciones apriorísticas sobre cómo se comportan los cambios morfológicos de un objeto.

The Accessory Muscular Head of the Triceps Brachii Muscle with Tendinous Attachment / Cabeza Muscular Accesoria del Músculo Triceps Braquial con Inserción Tendinosa

SUMMARY: Variations in the triceps brachii muscle are uncommon, and especially limited reports exist on the accessory heads of tendinous origin that attach near the upper medial part of the humerus. During anatomical training at Nagasaki University School of Medicine, the accessory head of the triceps brachii muscle was observed on the right upper arm of a 72-year-old Japanese female. It arose tendinously from the medial side of the upper humerus, then formed a muscle belly and joined the distal side of the long head. This accessory head had independent nerve innervation, and the innervating nerve branched from a bundle of the radial nerve, which divided the nerve innervating the long head and the posterior brachial cutaneous nerve. The origin of the innervation of the accessory head was the basis for determining that this muscle head was an accessory muscle to the long head of the triceps brachii muscle. Embryologically, we discuss that part of the origin of the long head of the triceps brachii muscle was separated early in development by the axillary nerve and the posterior brachial circumflex artery, and it slipped into the surgical neck of the humerus and became fixed there. The accessory head crossed the radial nerve and deep brachial artery. When clinicians encounter compression of the radial nerve or profunda brachii artery, they should consider the presence of accessory muscles as a possible cause.

Las variaciones en el músculo tríceps braquial son poco comunes y existen informes especialmente limitados sobre las cabezas accesorias de origen tendinoso que se insertan cerca de la parte medial superior del húmero. Durante un entrenamiento anatómico en la Facultad de Medicina de la Universidad de Nagasaki, se observó la cabeza accesoria del músculo tríceps braquial en la parte superior del brazo derecho de una mujer japonesa de 72 años. Se originaba tendinosamente desde el lado medial de la parte superior del húmero, luego formaba un vientre muscular y se unía al lado distal de la cabeza larga. Esta cabeza accesoria tenía inervación nerviosa independiente, cuyo nervio se ramificaba a partir de un ramo del nervio radial, que dividía el nervio que inervaba la cabeza larga y el nervio cutáneo braquial posterior. El origen de la inervación de la cabeza accesoria fue la base para determinar que esta cabeza muscular era un músculo accesorio de la cabeza larga del músculo tríceps braquial. Embriológicamente, discutimos que parte del origen de la cabeza larga del músculo tríceps braquial se separó temprananamente en el desarrollo por el nervio axilar y la arteria circunfleja braquial posterior, y se deslizó hacia el cuello quirúrgico del húmero y quedó fijado allí. La cabeza accesoria cruzaba el nervio radial y la arteria braquial profunda. Cuando los médicos encuentran compresión del nervio radial o de la arteria braquial profunda, deben considerar la presencia de mús- culos accesorios como una posible causa.

Disease spectrum and pathogenic genes of inherited metabolic disorder in Gansu Province of China / 中国当代儿科杂志

OBJECTIVES@#To investigate the disease spectrum and pathogenic genes of inherited metabolic disorder (IMD) among neonates in Gansu Province of China.@*METHODS@#A retrospective analysis was conducted on the tandem mass spectrometry data of 286 682 neonates who received IMD screening in Gansu Provincial Maternal and Child Health Hospital from January 2018 to December 2021. A genetic analysis was conducted on the neonates with positive results in tandem mass spectrometry during primary screening and reexamination.@*RESULTS@#A total of 23 types of IMD caused by 28 pathogenic genes were found in the 286 682 neonates, and the overall prevalence rate of IMD was 0.63 (1/1 593), among which phenylketonuria showed the highest prevalence rate of 0.32 (1/3 083), followed by methylmalonic acidemia (0.11, 1/8 959) and tetrahydrobiopterin deficiency (0.06, 1/15 927). In this study, 166 variants were identified in the 28 pathogenic genes, with 13 novel variants found in 9 genes. According to American College of Medical Genetics and Genomics guidelines, 5 novel variants were classified as pathogenic variants, 7 were classified as likely pathogenic variants, and 1 was classified as the variant of uncertain significance.@*CONCLUSIONS@#This study enriches the database of pathogenic gene variants for IMD and provides basic data for establishing an accurate screening and diagnosis system for IMD in this region.

Seasonal variations of the prevalence of metabolic syndrome and its markers using big-data of health check-ups

BACKGROUND@#It is crucial to understand the seasonal variation of Metabolic Syndrome (MetS) for the detection and management of MetS. Previous studies have demonstrated the seasonal variations in MetS prevalence and its markers, but their methods are not robust. To clarify the concrete seasonal variations in the MetS prevalence and its markers, we utilized a powerful method called Seasonal Trend Decomposition Procedure based on LOESS (STL) and a big dataset of health checkups.@*METHODS@#A total of 1,819,214 records of health checkups (759,839 records for men and 1,059,375 records for women) between April 2012 and December 2017 were included in this study. We examined the seasonal variations in the MetS prevalence and its markers using 5 years and 9 months health checkup data and STL analysis. MetS markers consisted of waist circumference (WC), systolic blood pressure (SBP), diastolic blood pressure (DBP), triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), fasting plasma glucose (FPG).@*RESULTS@#We found that the MetS prevalence was high in winter and somewhat high in August. Among men, MetS prevalence was 2.64 ± 0.42 (mean ± SD) % higher in the highest month (January) than in the lowest month (June). Among women, MetS prevalence was 0.53 ± 0.24% higher in the highest month (January) than in the lowest month (June). Additionally, SBP, DBP, and HDL-C exhibited simple variations, being higher in winter and lower in summer, while WC, TG, and FPG displayed more complex variations.@*CONCLUSIONS@#This finding, complex seasonal variations of MetS prevalence, WC, TG, and FPG, could not be derived from previous studies using just the mean values in spring, summer, autumn and winter or the cosinor analysis. More attention should be paid to factors affecting seasonal variations of central obesity, dyslipidemia and insulin resistance.

Peripheral immune profile and gene variations of 11 immunodeficiency virus-negative children with Talaromyces marneffei infection / 中华实用儿科临床杂志

Objective:To explore the immunological characteristics of peripheral blood and genetic variations of 11 immunodeficiency virus(HIV)-negative children with Talaromyces marneffei(TM) infection, thus enhancing the diagnostic and therapeutic levels of TM infection in children. Methods:Clinical data of 11 HIV-negative children with TM infection who presented to Guangzhou Women and Children′s Medical Center, Guangzhou Medical University from January 2010 to December 2022 were retrospectively analyzed, including clinical characteristics, peripheral immune profile and genetic test results.Results:A total of 11 HIV-negative children with TM infections were recruited, involving 9 males and 2 females with a median age of 19 months.The main clinical manifestations were fever (10/11, 90.91%), cough (10/11, 90.91%) and hepatomegaly (7/11, 63.64%). Common severe complications included acute respiratory distress syndrome (7/11, 63.64%) and septic shock (5/11, 45.45%). Finally, 2 children died.Transient neutropenia occurred in 6 cases (6/11, 54.55%), and lymphocytopenia combined with serum immunoglobulin (Ig) G decrease was observed in 4 cases (4/11, 36.36%). IgA decrease, IgM decrease, IgE decrease, IgM increase and IgE increase were observed in 6 cases, 3 cases, 5 cases, 3 cases, and 2 cases, respectively.Both T-lymphocyte and B-lymphocyte counts decreases was observed in 1 case.Genetic testing was performed in all recruited children, and genetic variations were detected in all of them.Inborn errors of immunity (IEIs) were diagnosed in 8 cases, including 4 diagnosed as CD 40 ligand deficiency with CD40LG variation, 1 of severe combined immunodeficiency with IL2RG variation, 1 of Signal transduction and activator of transcription 3(STAT3)-hyper-IgE syndrome with STAT3 variation and 1 of familial candidiasis type 2 with CARD9 compound heterozygous mutations.In the other 3 cases, 2 carried genetic variations that were likely pathogenic, and 1 case was considered uncertain. Conclusions:The clinical manifestations of HIV-negative children with TM infection are atypical, which is characterized as serious complications and high mortality.Early identification and gene testing to detect potential IEIs can improve the prognosis of TM infection.

Research progress in ulna impingement syndrome / 沈阳医学院学报

Ulna impingement syndrome is the main cause of wrist ulnar pain.It is caused by repeated impingement between the ulnar bone,triangular fibrocartilage complex,lunate bone and triangular bone,resulting in long-term overload of the ulnar side of wrist,affecting local blood supply and joint lubrication fluid nutrition disorders,and finally causing a series of pathological changes and clinical symptoms of joint degenerative diseases.The main clinical manifestations are pain on the ulnar side of the wrist,which gradually aggravated with repeated strong grasping activities,forearm pronation or ulnar deviation of the wrist.At present,the diagnosis of ulna impingement syndrome mainly depends on the symptoms,physical examination,imaging examination and wrist arthroscopy.Conservative treatment can be selected for ulnar impaction syndrome,but the effect is often poor.Therefore,surgery is still the main treatment.The surgical methods mainly include ulna shortening osteotomy,Wafer,Darrach and Sauvé-Kapandji,and the former two are the most commonly used.This article reviews the progress of diagnosis and treatment of ulna impingement syndrome.

Correlation between coronal pressure variation and coronal imbalance in adolescent idiopathic scoliosis patients / 中国组织工程研究

BACKGROUND:The distribution of horizontal pressure in adolescent idiopathic scoliosis can be used to evaluate the coronal imbalance.Currently,there are no reports on the characteristics of coronal pressure distribution and its correlation with coronal imbalance. OBJECTIVE:To explore the correlation between coronal pressure variation and coronal imbalance in adolescent idiopathic scoliosis patients. METHODS:A total of 39 adolescent idiopathic scoliosis patients who met the inclusion and exclusion criteria in Lianyungang First People's Hospital from March 2021 to June 2022 were selected as the adolescent idiopathic scoliosis group,and 30 matched healthy volunteers were recruited from the outpatient department as the control group.The horizontal position pressure,folding position pressure,coefficient of variation,and global and trunk pressure variation were measured by the TBED Postural Couch evaluation system.In the adolescent idiopathic scoliosis group,full-length spine radiographs were taken to measure Cobb angle,coronal balance,apical vertebral deviation and Nash-Moe rotation.The characteristics of coronal pressure variation and its correlation with coronal imbalance were analyzed. RESULTS AND CONCLUSION:(1)Compared with the control group,there was no statistically significant difference in the horizontal position pressure and folding position pressure in the adolescent idiopathic scoliosis group(P>0.05),but the global pressure variation and coefficient of variation were significantly increased(all P<0.05).(2)There were differences in both sides of the trunk of the adolescent idiopathic scoliosis group and the control group(P<0.05),and the convex side pressure variation in the adolescent idiopathic scoliosis group was higher than the concave side pressure variation in the left and right side pressure variation in the control group(all P<0.05).(3)The variation of the convex side pressure of the trunk in adolescent idiopathic scoliosis patients was positively correlated with coronal balance intensity(r=0.692,P<0.05),moderately positively correlated with Cobb angle and apical vertebral deviation(r=0.499,0.595,all P<0.05),and weakly correlated with Nash-Moe grade(r=0.377,P<0.05).The variation of the concave side pressure of the trunk was moderately positively correlated with coronal balance(r=0.410,P<0.05),and the rest was weakly correlated or not correlated(P>0.05).(4)These findings indicate that pressure variation may be used as an adjoint assessment tool in patients with mild to moderate scoliosis.

Comparison of interobserver variations in delineation of target volumes and organs-at-risk for intensity-modulated radiotherapy of nasopharyngeal carcinoma among physicians from different levels of cancer centers / 中国医学物理学杂志

Objective To assess inter-observer variations(IOV)in the delineation of target volumes and organs-at-risk(OAR)for intensity-modulated radiotherapy(IMRT)of nasopharyngeal carcinoma(NPC)among physicians from different levels of cancer centers,thereby providing a reference for quality control in multi-center clinical trials.Methods Twelve patients with NPC of different TMN stages were randomly selected.Three physicians from the same municipal cancer center manually delineated the target volume(GTVnx)and OAR for each patient.The manually modified and confirmed target volume(GTVnx)and OAR delineation structures by radiotherapy experts from the regional cancer center were used as the standard delineation.The absolute volume difference ratio(△V_diff),maximum/minimum volume ratio(MMR),coefficient of variation(CV),and Dice similarity coefficient(DSC)were used to compare the differences in organ delineation among physicians from different levels of cancer centers and among the 3 physicians from the same municipal cancer center.Furthermore,the IOV of GTVnx and OAR among physicians from different levels cancer centers were compared across different TMN stages.Results Significant differences in the delineation of GTVnx were observed among physicians from different levels of cancer centers.Among the 3 physicians,the maximum values of △V_diff,MMR,and CV were 97.23%±83.45%,2.19±0.75,and 0.31±0.14,respectively,with an average DSC of less than 0.7.Additionally,there were considerable differences in the delineation of small-volume OAR such as the left and right optic nerves,chiasm,and pituitary,with average MMR>2.8,CV>0.37,and DSC<0.51.However,relatively smaller differences were observed in the delineation of large-volume OAR such as the brainstem,spinal cord,left and right eyeballs,and left and right mandible,with average△V_diff<42%,MMR<1.55,and DSC>0.7.Compared with the differences among physicians from different levels cancer centers,the differences among the 3 physicians from the municipal cancer center were slightly reduced.Furthermore,there were also differences in the delineation of target volumes for NPC among physicians from different levels cancer centers,depending on the staging of the disease.Compared with the delineation of target volumes for earlier stage patients(stages I or II),the differences among physicians in the delineation of target volumes for advanced stage patients(stages III or IV)were smaller,with average △V_diff and DSC of 98.31%±67.36%vs 69.38%±72.61%(P<0.05)and 0.55±0.08 vs 0.72±0.12(P<0.05),respectively.Conclusion There are differences in the delineation of GTVnx and OAR in radiation therapy for NPC among physicians from different levels of cancer centers,especially in the delineation of target volume(GTVnx)and small-volume OAR for early-stage patients.To ensure the accuracy of multicenter clinical trials,it is recommended to provide unified training to physicians from different levels of cancer centers and review their delineation results to reduce the effect of differences on treatment outcomes.

Ultrasound for evaluation of vertebral artery course variation / 中国医学影像技术

Objective To observe the value of ultrasonography for evaluating the anatomy and hemodynamic characteristics of vertebral artery course variation(VA-CV).Methods Totally 41 patients with VA-CV(VA-CV group)and 41 patients without VA-CV(control group)were enrolled.Lateral variation of vertebral artery(VA),the origin of V1 segment,the length of proximal subclavian artery(PSCA),the location of VA into the transverse foramen,the diameter of V2 segment,the peak systolic velocity(PSV)and the end-diastolic velocity(EDV)were evaluated with ultrasonography.The value of ultrasonography for evaluating VA-CV and relative hemodynamic changes were analyzed.Results Totally 49 variant VA were detected in VA-CV group,including 19 on the left and 30 on the right side,VA-CV on the right side was more often than on the left side.Seventeen(16 on the left and 1 on the right side)VA had abnormal origins,and abnormal VA origins on the left side were more than that on the right side(P＜0.001).Meanwhile,VA origins of right VA-CV were mostly lower than that of the left side VA-CV(P＜0.001).The length of right PSCA in VA-CA group was shorter than that in control group(P＜0.05).More than half variant VA entered vertebral space from the transverse foramen of C5-6(33/49,67.35％),and the higher the entrance of transverse foramen,the shorter the PSCA(P＜0.05).In VA-CV group,the diameter of V2 segment in left VA-CV patients was smaller than that in control group,while EDV in the former was lower than in the latter(both P＜0.05).Conclusion Ultrasonography could be used to objectively evaluate VA-CV and relative hemodynamic changes.

Study on the effect factors of GDFT under guidance of hemodynamic monitor on the PONV of patients after gynecological laparoscopic surgery / 中国医学装备

Objective:To investigate the effect of goal-directed fluid therapy(GDFT)under the guidance of LIDCOrapid hemodynamic monitor on postoperative nausea and vomiting(PONV)of patients after gynecological laparoscopic surgery.Methods:A total of 90 patients who underwent laparoscopic extensive hysterectomy under general anesthesia in Affiliated Hospital of Shandong Second Medical University from August 2020 to June 2021 were selected,and they were divided into observation group and control group as random number table,with 45 cases in each group.Patients in control group supplemented fluid according to the guidance of urine output and mean arterial pressure(MAP).Patients in observation group supplemented fluid according to GDFT under guidance of stroke volume variation(SVV).The MAP values,heart rates(HR),SVV values and cardiac index(CI)values at the 10th min after patients entered the operation room(T0),the 3rd min after anesthesia induction(T1),and the 3rd min(T2),the 30th min(T3)and the 1st h(T4)after Terndelenburg position,and the time of completing surgery(T5)were observed.In addition,the intraoperative intake and output volume of liquid,the indicators of gastrointestinal function recovery after surgery,and the length of stay also were observed.The PONV incidence of main outcome indicators,and the PONV scores of postoperative 0-6h(T6),6-12 h(T7),12-24 h(T8)and 24-48 h(T9)of secondary outcome indicators,as well as the number of patients who received the treatment of antiemetic compensation after surgery,were analyzed.Results:The PONV incidence of observation group was significantly lower than that of control group(x2=6.40,P<0.05).The PONV scores of postoperative T6 and T7 of observation group were significantly lower than those of control group(t=4.92,3.42,P<0.05),respectively.The HR and CI value at T4 of observation group were significantly higher than those of control group(t=0.73,0.64,P<0.05),while the SVV of observation group increased from T3 to T5,with significant differences(t=2.28,3.42,4.10,P<0.05),respectively.The intraoperative crystalline fluid input and total infusion volume decreased,while colloidal fluid input increased,and the differences of them between two groups were significant(t=15.10,12.36,8.19,P<0.05),respectively.The postoperative exhaust time,defecation time and feeding time of observation group were significantly earlier than these of control group(t=3.79,2.09,2.54,P<0.05),respectively.But there was no statistical difference in the length of stay between the two groups.Conclusion:GDFT,which is guided by LIDCOrapid hemodynamic monitor,may decrease the incidence of PONV of gynecological laparoscopic surgery and the severity of PONV within 12 hours after surgery.

Analysis of drug resistance gene variation of influenza A（H1N1） pdm09 virus in Huzhou City，Zhejiang Province / 上海预防医学

ObjectiveTo investigate the mutation and genetic evolution of drug resistance gene of A（H1N1） pdm09 influenza pandemic strain in 2023 in Huzhou City， Zhejiang Province. MethodsRespiratory tract specimens from 2 influenza monitoring hospitals were collected forA（H1N1） pdm09 influenza virus nucleic acid detection. Positive specimens were inoculated with MDCK cells for influenza virus isolation and sequencing. DNA Star 7.1 software and Mega 4.0 software were used to analyze the neuraminidase （NA） enzyme active site and the amino acid sites related to drug resistance in M2 protein. ResultsNucleotide homology and amino acid homology of NA between the isolated and the vaccine strains were 98.87%‒99.22% and 98.94%‒99.36%， respectively. The nucleotide homology range of M gene was 99.07% to 99.85%， and the amino acid homology range was 99.02%‒99.94%. The isolates and vaccine strains belong to the evolutionary clades of 6B.1A.5a.2a. The amino acids at the key sites of the enzyme activity center of NA were still highly conserved， and the 9 key amino acid sites related to NA inhibitor resistance did not change， but some mutations occurred at the non-enzyme active sites in some popular strains. The 5 amino acid sites related to drug resistance of M2 protein were not replaced， but the 31st amino acid sites changed from serine to asparagine. ConclusionThe A（H1N1） pdm09 pandemic strain in Huzhou in 2023 has high homology with the 2023‒2024 vaccine strain recommended by WHO. All endemic strains are resistant to amantadines.

Ribosomal DNA copy number variation in peripheral blood and its influencing factors among patients with pneumoconiosis / 预防医学

Objective@#To explore the changes in ribosomal DNA copy number in peripheral blood among patients with pneumoconiosis and its influencing factors, so as to provide insights into prevention and treatment of pneumoconiosis.@*Methods@#Eighty-eight patients with pneumoconiosis who visited a designated hospital and 71 community residents with no history of pneumoconiosis or dust exposure were selected as the pneumoconiosis group and control group, and age, smoking history, drinking history and cumulative years of exposure to dust were collected through questionnaire surveys. The copy number of 45S rDNA and 5S rDNA was detected using real-time fluorescence quantitative PCR, and the differences between the two groups were compared. Factors affecting the copy number of 45S rDNA and 5S rDNA were identified by a multiple linear regression model.@*Results@#The pneumoconiosis group had a median age of 56.00 (interquartile range, 15.25) and a mean cumulative dust exposure duration of (12.40±8.08) years, with 56.82% smoking and 62.50% drinking. The control group had a median age of 64.00 (interquartile range, 37.00) years, with 32.39% smoking and 26.76% drinking. The median copy number of 45S rDNA in the pneumoconiosis group was 1.29 (interquartile range, 0.59), which was lower than 2.10 (interquartile range, 1.88) in the control group; the median copy number of 5S rDNA in the pneumoconiosis group was 5.33 (interquartile range, 0.85), which was higher than 4.66 (1.34) in the control group (both P<0.05). Multiple linear regression analysis identified age (β=-0.034) and pneumoconiosis (β=-1.595) as factors affecting 45S rDNA copy number, age (β=-0.013) as a factor affecting 5S rDNA copy number, and age (β=0.018) as a factor affecting 5S rDNA copy number in the pneumoconiosis group (all P<0.05).@*Conclusions@#Compared with community residents with no history of pneumoconiosis or dust exposure, the copy number of 45S rDNA in peripheral blood among patients with pneumoconiosis is reduced and the copy number of 5S rDNA is increased.

The predictive value of PPV and SVV after tidal volume challengeon volumetric responsiveness in patients with ARDS / 重庆医学

Objective To explore the predictive value of pulse pressure variation(PPV),stroke volume variation(SVV)and their changing values after tidal volume increase from 6 mL/kg to 8 mL/kg predicted body weight(PBW)on the volumetric responsiveness in the patients with acute respiratory distress syndrome(ARDS).Methods A prospective study was conducted.Twenty-three ARDS patients with acute circulatory failure treated in the intensive care unit(ICU)of this hospital from January 2021 to December 2022 were se-lected.The indicators such as PPV,SVV and cardiac index were recorded at the tidal volume of 6 mL/kg PBW,1 min after tidal volume challenge(tidal volume instantly increased to 8 mL/kg PBW),the tidal volume re-reduced to 6 mL/kg PBW,and after fluid bolus(FB),respectively.The cardiac index increase(ΔCI)≥15％served as the volumetric responsiveness positive when the tidal volume was re-reduced to 6 mL/kg PBW and after giving FB.The receiver operating characteristic(ROC)curve was used to evaluate the predictive value of PPV,SVV and their changing values for the volumetric responsiveness after the tidal volume increase from 6 mL/kg to 8 mL/kg PBW.Results A total of 42 measurements were performed in 23 patients.Among them,24 set of measurements were volumetric responsiveness positive(group R),and 18 set of measurements were volumetric responsiveness negative(group NR).The absolute values(ΔPPV6-8,ΔSVV6-8)and percentage(％ΔPPV6-8,％ΔSVV6-8)of PPV and SVV in tidal volume increase from 6 mL/kg to 8 mL/kg PBW had statisti-cal differences between the two groups(P＜0.05).ΔPPV6-8 and ΔSVV6-8 could predict the volumetric respon-siveness in the patients with ARDS.The area under the ROC curve(AUC)and its 95％CI were 0.92(0.84-1.00)and 0.90(0.81-0.99),and the optimal cut off values were 2.5％and 3.5％,respectively.When the tid-al volume was 6 mL/kg PBW,the PPV,SVV and central venous pressure(CVP)could not effectively predict the volumetric responsiveness in the patients with ARDS.Conclusion The efficiency of PPV or SVV changing values after tidal volume challenge for predicting the volumetric responsiveness of ARDS patients during low tidal volume ventilation is superior to PPV and SVV.

Study on Variation Trend of Pre-treatment Blood Human Chorionic Gonadotropin in Predicting Efficacy of Tubal Pregnancy Treated by Drug Therapy / 广州中医药大学学报

Objective To investigate the role of variation trend of pre-treatment blood beta human chorionic gonadotropin(β-HCG)in predicting the efficacy of tubal pregnancy(TP)treated by drug therapy.Methods Clinical data of 380 TP patients treated by drug therapy at the First Affiliated Hospital of Guangzhou University of Chinese Medicine from January 2017 to June 2022 were collected.The patients were divided into 271 cases in the pure Chinese medicine(CM)treatment group(shortened as pure CM group)and 109 cases in the combination of Chinese medicine and western medicine group(shortened as combination group)according to the therapy.The relevant factors that may affect the outcomes of the therapy were analyzed,and logistic regression analysis was used for the control of confounding factors.The influences of pre-treatment β-HCG on the outcomes of TP treated by various therapies were investigated,and the value of variation trend of pre-treatment β-HCG in predicting the efficacy of TP treated by drug therapy was assessed using the receiver operating characteristic curve(ROC curve).Results(1)The results of univariate analysis showed that the initial value of blood β-HCG,the variation trend of β-HCG and the difference value of β-HCG detected for 2 times before treatment were correlated with the treatment outcomes in the pure CM group and the combination group,and the differences were all statistically significant(P＜0.05 or P＜0.01).(2)The results of multivariate regression analysis showed that in the pure CM group,the blood β-HCG values and the variation trend of β-HCG detected for 2 times before treatment were correlated with the treatment outcomes,and the differences were all statistically significant(P＜0.05 or P＜0.01);in the combination group,the menopausal time and blood β-HCG value detected at the second time before treatment were correlated with the treatment outcomes,and the differences were all statistically significant(P＜0.05).(3)After controlling for the confounding factors,the variation trend of pre-treatment β-HCG in the pure CM group was correlated with the treatment outcomes,and the difference was statistically significant(OR=3.35,95%CI being 1.69-6.65,P = 0.001).However,the variation trend of pre-treatment β-HCG in the combination group did not affect the treatment outcomes,and the difference was not statistically significant(P＞0.05).(4)The ROC curve analysis showed that the area under the curve(AUC)in the pure CM group was 0.74,the cutoff value was-0.14,the sensitivity was 71.3%and the specificity was 67.8%.The AUC in the combination group was 0.67,the cutoff value was 0.10,the sensitivity was 73.6%and the specificity was 60.7%.Conclusion The variation trend of pre-treatment blood β-HCG can effectively predict the efficacy of Chinese medicine for the treatment of TP,but has no value for predicting the efficacy of the combination of Chinese medicine and western medicine in treating TP.The variation value of pre-treatment blood β-HCG can be used as a valuable reference indicator for the early prediction of the outcomes of TP treated by drug therapy.

Association between ELL2 polymorphism and susceptibility to pleomorphic adenoma of salivary gland / 解放军医学杂志

Objective To analyze the correlation between the ELL2 gene 1119 T>C polymorphism and the susceptibility to pleomorphic adenoma of the salivary gland.Methods The pedigree of the pleomorphic adenoma family of salivary gland was drawn.The exons of ELL2 gene in 5 members of salivary pleomorphic adenoma family were sequenced.A case-control study was conducted.One hundred and twelve patients with pleomorphic adenoma of the salivary gland who visited the Department of Oral and Maxillofacial Surgery of Shanxi Bethune Hospital from January 2016 to July 2020 were taken as case group,and 176 healthy examinees from January 2019 to January 2020 were taken as control group with age and sex as matching conditions.The 1119 T>C polymorphism of ELL2 genes in the two groups were detected with high resolution melting(HRM)curve.Chi-square test was adopted to analyze the correlation between gene polymorphism and the occurrence of pleomorphic adenoma of the salivary gland,stratified analysis was performed to evaluate the synergistic effect of smoking and genotype,and real time quantitative reverse transcription polymerase chain reaction(RT-PCR)was used to detect the expression level of ELL2 in individuals with different genotypes.Results The 1119 T>C polymorphism site existed in the exon 8 of ELL2 gene in a family with pleomorphic adenoma of salivary gland.The results of case-control study showed that the genotype frequency of homozygous CC was significantly higher in patients with pleomorphic adenoma of salivary gland than that in the controls(24.1%vs.11.9%,P=0.002).Homozygous CC was associated with increased risk for developing pleomorphic adenoma of salivary gland(OR=3.059,95%CI 1.494-6.263)in this cohort.Stratification analysis showed that smoking and 1119C allele cooperated to increase the risk of pleomorphic adenoma of salivary gland(OR=3.200,95%CI 1.460-7.014).The expression level of ELL2 mRNA in CC genotype was significantly higher than that in individuals with CT or TT genotype(P<0.05).Conclusion The genetic variation of ELL2 may play an important role in the occurrence of pleomorphic adenoma of salivary gland,and smoking combined with the 1119C allele increased the risk of this disease.

A case of autosomal recessive spinocerebellar ataxia type 16 caused by STUB1 gene variant and literature review / 中华神经科杂志

Objective:To discuss the clinical characteristics of autosomal recessive spinocerebellar ataxia type 16 patients caused by STUB1 gene mutation, in order to improve the clinical doctors′ understanding of the disease. Methods:The clinical manifestations, auxiliary examinations and genetic testing of 1 autosomal recessive spinocerebellar ataxia type 16 patient caused by STUB1 gene variants diagnosed in Qilu Hospital of Shandong University in May 2022 were collected, and the relevant literature was reviewed to summarize the clinical and genetic characteristics of this type of disease. Results:The proband was a 35-year-old male presenting with unsteady walk and dysarthria. Magnetic resonance imaging showed cerebellar atrophy. Next generation sequencing revealed compound heterozygous c.322dupG (p.Glu108Glyfs *4) and c.433A>C (p.Lys145Gln) variants in the STUB1 gene (according to the transcript NM_005861.4), and the c.322dupG (p.Glu108Glyfs *4) variant was a novel variant. Pedigree verification revealed the 2 variants were respectively inherited from the proband′s healthy parents. A total of 12 foreign literatures reported 32 autosomal recessive spinocerebellar ataxia type 16 patients. The main clinical manifestations were ataxia, dysarthria and tendon hyperreflexia. Besides, nystagmus, spasticity, action tremors, and myoclonus can be present. Magnetic resonance imaging predominantly showed cerebellar atrophy. Conclusions:The patient with autosomal recessive spinocerebellar ataxia type 16 caused by STUB1 gene variant is rare in China. The main clinical manifestation is cerebellar ataxia, and brain imaging reveals remarkable cerebellar atrophy. Genetic testing is helpful for definite diagnosis.

The genetic and clinical features of MORC2 gene-related neuropathy in Chinese patients / 中华神经科杂志

Objective:To summarize the genetic and phenotypic features of MORC family CW-type zinc finger 2 (MORC2) gene-related neuropathy in Chinese patients. Methods:The clinical and whole exome sequencing data of MORC2 gene-related neuropathy families with a definitive genetic diagnosis were collected from the Third Xiangya Hospital of Central South University between 2010 and 2023. Literature involving Chinese families with MORC2 gene-related neuropathy was extensively reviewed to provide a comprehensive summary of the genetic and phenotypic spectrum of the disease. Results:A total of 10 families with MORC2 gene-related neuropathy were identified and analyzed. Six different heterozygous pathogenic variants in the MORC2 gene were observed among these families, including the novel variant c.1330G>C (p.G444R) that had not been previously reported. Six families presented as axonal Charcot-Marie-Tooth disease caused by variants in the MORC2 gene (CMT2Z) phenotype with childhood or adult onset, and carried variants c.754C>T (p.R252W), c.1199A>G (p.Q400R), c.1330G>C (p.G444R), or c.1396G>A (p. D466N); 3 families manifested as severe spinal muscular atrophy (SMA)-like phenotype with infantile onset, all carried c.260C>T (p.S87L); 1 family carried c.1181A>G (p.Y394C), presented as DIGFAN syndrome phenotype with infantile onset combined with mental and motor retardation. Systematic review showed 8 Chinese families carried pathogenic variants of the MORC2 gene, among which 5 families were associated with the CMT2Z phenotype, carrying c.754C>T (p.R252W), c.1079A>G (p.E360G), c.1220G>A (p.C407Y), or c.1397A>G (p.D466G); 1 family was associated with SMA-like phenotype, carrying c.260C>T (p.S87L); and 2 families were associated with DIGFAN syndrome, carrying c.79G>A (p.E27K) and c.292G>A (p.G98R). Conclusions:A novel pathogenic variant c.1330G>C (p.G444R) of the MORC2 gene associated with the CMT2 phenotype is reported. Eleven pathogenic variants of the MORC2 gene have been reported in the Chinese patients to date, and c.754C>T(p.R252W) may be the most common. Patients with MORC2 gene-related neuropathy carrying different variants present with significant clinical heterogeneity, manifesting as CMT2Z, early-onset severe SMA-like myasthenia, or DIGFAN syndrome.

Diagnostic value of targeted sequencing panel for genetic variation in neonates in neonatal intensive care unit / 中华围产医学杂志

Objective:To investigate the clinical value of targeted sequencing panel in the detection of genetic variation in neonates in neonatal intensive care unit (NICU).Methods:All neonates (≤28 d of age) admitted in the NICU (case group) and 200 full-term healthy neonates born with no obvious phenotypic abnormalities of Huzhou Maternity and Child Health Care Hospital were enrolled in this prospective study from November 2022 to January 2023. Based on a list of preventable and treatable rare diseases as well as newly screened diseases in China, a targeted sequencing panel suitable for Chinese newborns was designed to target the pathogenic genes and mutation sites associated with 601 genes and 542 diseases. Dried blood spot specimens were prepared and analyzed by the targeted sequencing panel. Pathogenic sites detected by the panel sequencing were verified using Sanger sequencing. The genetic testing results were analyzed according to the clinical features of the neonates. According to the number of primary clinical diagnosis index (including premature infants, neonatal hyperbilirubinemia, hemorrhagic diseases, neonatal infections, ventricular septal defect/patent ductus arteriosus, and others), these patients were divided into four groups with 1, 2, 3, and ≥4 diagnosis index, respectively. Chi-square test and linear correlation Chi-square test were used for statistical analysis. Results:There were 173 patients in the case group and 30.6% (53/173) of them carried pathogenic variants, including 52 positive for pathogenic genes and one with chromosome copy number variant. The positive rate of pathogenic genes was significantly higher in the case group than in the control group [30.1% (52/173) vs. 15.0% (30/200), χ 2=12.26, P<0.001]. Fourteen pathogenic genes were detected in the case group, including FLG, UGT1A1, G6PD, MYH7, AR, ABCC2, ACADS, CYP21A2, GJB2, MEFV, PAH, PKHD1, SCN4A, and HBA. In the case group, the detection rate of pathogenic variants in jaundiced neonates was higher than that in non-jaundiced neonates [35.2% (44/125) vs. 18.8% (9/48), χ 2=4.42, P=0.036]. However, there were no statistically significant differences in the detection rates of pathogenic variants between male and female infants, infants born to mothers of advanced maternal age or not, infants born to mothers with or without gestational diabetes mellitus, premature and term infants, or infants with or without hemorrhagic disorders, neonatal infections, or ventricular septal defects/patent ductus arteriosus in the case group (all P>0.05). The detection rate of pathogenic variants showed a linear increase in infants with 1, 2, 3, and ≥4 diagnosis index [21.1% (8/38), 25.4% (15/59), 38.2% (13/34), and 40.5% (17/42); linear correlation χ 2=4.84, P=0.028]. In the case group, seven genes with a high detection rate of genetic variation (including positive pathogenic genes and carriers) were UGT1A1 [had the highest detection rate, 24.9% (43/173)], GJB2, FLG, DUOX2, ABCA4, G6PD, and MUT. Seven loci with higher mutation frequency were c.211G>A(p.Gly71Arg), c.1091C>T(p.Pro364Leu), c.-41_-40dupTA, and c.686C>A(p.Pro229Gln) in the UGT1A1 gene, c.109G>A(p.Val37Ile) in the GJB2 gene, and c.12064A>T(p.Lys4022Ter) and c.3321del(p.Gly1109GlufsTer13) in the FLG gene. Conclusion:This panel sequencing can provide effective genetic testing for neonates in NICU, especially in children with complex clinical diagnosis.

A pair of siblings with congenital short bowel syndrome and intestinal malrotation caused by a novel variation in the CLMP gene / 中华围产医学杂志

This paper reports a pair of siblings with congenital short-bowel syndrome (CSBS) complicated with intestinal malrotation. Case 1 was born with a birth weight of 2 550 g and a length of 48 cm. On September 10, 2017, emergency Ladd's procedure and appendectomy were performed on the infant 23 days after birth due to intestinal obstruction at the Women and Children's Hospital, School of Medicine, Xiamen University. The small intestine of the infant had a total length of 65 cm. Postoperative enteral and parenteral nutrition supports were provided for six months. Whole exome sequencing revealed a homozygous variant (NM 024769; nucleotide deletion in the exon 3-5) in the CLMP gene (chr11:122953792-122955421), with the parents being the heterozygous carriers but without phenotype. Case 2, the younger sibling of Case 1, was born in the same hospital on March 20, 2020, with a birth weight of 2 932 g and a body length of 49 cm. Prenatal single-gene sequencing on the amniotic fluid identified the same gene variation as his sister's. The baby boy received Ladd's procedure and appendectomy on the second day after birth which found the length of his small intestine was 51 cm. Full enteral nutrition was achieved six months after the operation. Both cases were followed up for 12 months. The body weight and length of Case 1 were both below the first percentile (< P1). The body weight of Case 2 was 8.03 kg ( P3- P5) and the length was 76.0 cm ( P25- P50).