Eye diseases associated with developmental abnormality of neural crest / 国际眼科杂志(Guoji Yanke Zazhi)

The neural crest represents a dynamic population of embryonic stem cells, playing a pivotal role in the development of the eye. Through interactions with the surrounding neuroectoderm, superficial ectoderm and mesoderm, the neural crest contributes to the formation of numerous ocular structures, encompassing the corneal stroma and endothelium, trabecular meshwork, iris stroma, ciliary muscle, vitreous and choroidal vessels, and Müller cells. Aberrant migration and development of neural crest cells within the eye can instigate a complex series of ocular diseases. Such diseases include anterior segment like Axenfeld-Rieger syndrome, Peters anomaly, aniridia, primary congenital glaucoma, and Nail-Patella syndrome. Defects that impact the posterior segment may lead to CHARGE syndrome and Branchio-oculo-facial syndrome. Further, rare neurocristopathies such as Waardenburg syndrome, Treacher-Collins syndrome, and Char syndrome can also present with ocular abnormalities. In this review, we explore the ocular diseases that arise from abnormal neural crest cell development, and delve into the related genes involved in neural crest migration and development. We further discuss how mutations and defects in these genes can precipitate ocular diseases.

Histopathological changes of lymphatic malformation after bleomycin injection / Alterações histopatológicas da malformação linfática após injeção de bleomicina

ABSTRACT Lymphatic malformation is a rare orbital tumor that used to be treated surgically, with high complication rates, or recently with intralesional bleomycin injection. We report for the first time the histopathological changes of eyelid lymphatic malformation after water-soluble intralesional bleomycin injection in a 20-year-old woman who had unsuccessful orbital surgical debulking during childhood. The changes confirmed the assumption of fibrosis induced by intralesional bleomycin injection. The minimal bleeding during surgical intervention made it much easier than the usual lymphatic malformation bloody procedure, without postoperative recurrences and with favorable aesthetic outcomes.

RESUMO A malformação linfática é um tumor orbital raro que costumava ser tratado cirurgicamente, com alta taxa de complicações. Mais recentemente, passou a ser tratado com uma injeção intralesional de bleomicina. Este é o primeiro relato sobre as alterações histopatológucas da malformação linfática palpebral após uma injeção intralesional de bleomicina hidrossolúvel em uma mulher de 20 anos de idade que sofreu uma cirurgia malsucedida de debulking orbital durante a infância, confirmando a suposição de fibrose induzida por injeções intralesionais de bleomicina. O sangramento mínimo durante a intervenção cirúrgica tornou esta muito mais fácil que o procedimento sangrento habitual, sem recidivas pós-operatórias e com desfechos estéticos favoráveis.

Conduta obstétrica em caso de hipoplasia materna da veia cava inferior / Obstetric management in case of the maternal inferior vena cava hypoplasia

A hipoplasia da veia cava inferior é uma patologia rara que integra o conjunto de anomalias do desenvolvimento da veia cava inferior. A sua incidência situa-se entre 0,3%-0,5% na população saudável e 5% nos adultos jovens sem fatores de risco para trombose venosa profunda, sendo considerada um importante fator de risco para o desenvolvimento de trombose dos membros inferiores. O principal objetivo deste trabalho é reportar a conduta obstétrica de um caso clínico de uma grávida diagnosticada com hipoplasia da veia cava inferior, prévia à gravidez. Trata-se de um caso clínico, de uma grávida, primigesta, com 37 anos, com hipoplasia da veia cava inferior e heterozigotia para o gene MTHFR677 diagnosticadas, na sequência de uma trombose venosa bilateral dos membros inferiores e do segmento infrarrenal da veia cava inferior. A gravidez foi seguida em consulta hospitalar na nossa instituição, tendo a grávida sido medicada com enoxaparina em dose profilática e ácido acetilsalicílico, com um período pré natal que decorreu sem intercorrências. Às 37 semanas e 6 dias de gestação, deu entrada no Serviço de Urgência de Obstetrícia por rotura prematura de membranas. Intraparto foram utilizadas meias de compressão pneumática intermitente, tendo o parto ocorrido às 38 semanas de gestação por via vaginal (parto eutócico), do qual nasceu um recém-nascido do sexo feminino, com 2620g e índice de Apgar 9/10/10. O presente caso clínico demonstra que em situações de hipoplasia da veia cava inferior com um seguimento obstétrico adequado é possível a realização de um parto vaginal, possibilitando um desfecho obstétrico favorável (AU).

Hypoplasia of the inferior vena cava is a rare condition that belongs to the group of developmental anomalies of the inferior vena cava. It has an incidence between 0.3% and 0.5% in the healthy population and 5% in young adults without risk factors for deep venous thrombosis, being considered an important risk factor for the development of lower limb thrombosis. This study aims to report the obstetric conduct of a clinical case of a pregnant woman diagnosed with hypoplasia of the inferior vena cava prior to pregnancy. This is a clinical case of a pregnant woman, primigravid 37 years old, with hypoplasia of the inferior vena cava and heterozygosity for MTHFR677, diagnosed following a bilateral venous thrombosis of the lower limbs and the infrarenal segment of the inferior vena cava. The pregnancy was followed up in our institution. The pregnant woman was medicated with a prophylatic dose of low molecular weight heparin and acetylsalicylic acid with an uneventful prenatal period. At 37 weeks and 6 days of gestation, she was admitted to the Obstetrics Emergency Service due to premature rupture of membranes. Intermittent pneumatic compression sockings were used intrapartum, and at 38 weeks of gestation, a female newborn was vaginally delivered (eutocic delivery) with 2620g and an Apgar score of 9/10/10. The present clinical case demonstrates that in situations of hypoplasia of the inferior vena cava with an adequate obstetric follow-up, it is possible to perform a vaginal delivery, enabling a favourable obstetric outcome (AU).

Dyslipidemia as a risk factor for acute myocardial infarction in postmenopausal women: An observational study

Objective: This study has evaluated risk factors, especially dyslipidemia, for an acute myocardial infarction (AMI) in postmenopausal women. Materials and Methods: This was a hospital-based, observational, single-center study among 100 postmenopausal women admitted to the medicine ward with AMI. They were categorized based on lipid profile groups, viz., dyslipidemic group and non-dyslipidemic group. All clinical parameters were studied between the groups. Results: Among anthropometric profiles, in the comparison of mean height (cm), weight (kg), body mass index (BMI) (kg/m2 ), and waist circumference (WC) (cm) for the dyslipidemic group and non-dyslipidemic group, only WC was statistically significant (P < 0.001). Most patients were hospitalized between 6 and 12 h after the onset of symptoms. At the time of hospitalization, most patients from both groups were observed to have diabetes and hypertension with poor control of postprandial blood sugar, glycated hemoglobin, and diastolic blood pressure (DBP) (P < 0.05). The dyslipidemic group’s mean C-reactive protein was higher (P < 0.05). The comparison of mean total cholesterol, triglyceride (TG), low density lipoprotein-cholesterol in mg/dL, and TG: high density lipoprotein was significantly increased (P < 0.001), while high density lipoprotein-cholesterol (mg/ dL) was significantly decreased (P < 0.001) in the dyslipidemic group. ST-segment elevation myocardial infarction is standard in both groups. The maximum patient has regional wall motion abnormality in echocardiography after day 3 of admission. Among the dyslipidemic group, ejection fraction was on the lower side, and the predominant complication was in the left ventricular failure (LVF) (P < 0.05). Conclusion: WC has a positive association with patients with AMI who have dyslipidemia and can be used as an indicator of the risk of AMI when BMI is normal. WC is a surrogate marker of abdominal fat mass (subcutaneous and intra-abdominal); increased WC is a significant component marker of metabolic syndrome and insulin resistance related to cardiovascular mortality. There was poor glycemic control and blood pressure (mainly DBP) among the dyslipidemic patients. Hypertriglyceridemia is the most common lipid abnormality, followed by hypercholesterolemia among the dyslipidemic group. LVF is the most common complication in dyslipidemic patients.

Thyroid abnormalities and influencing factors in medical radiology workers in Guangdong Province / 环境与职业医学

Background The thyroid gland is one of the organs sensitive to ionizing radiation, and there are few studies on the effects of long-term exposure to low doses of ionizing radiation on the thyroid gland of radiation workers. Objective To investigate thyroid abnormalities in workers in medical radiology departments in Guangdong Province and to identify potential influencing factors of thyroid abnormalities. Methods A total of 1657 radiation workers from 48 hospitals in Guangdong Province were selected as survey subjects using convenience sampling, and their personal dose monitoring results and health examination information were retrospectively analyzed to determine the factors affecting thyroid abnormalities. Results The M (P25, P75) of thyroid absorbed dose (DT) was 1.55 (0.65, 3.96) mGy in the 1657 investigated workers. The attribute-specific medians of DT were 1.29, 1.38, 1.99, and 3.51 mGy for departments of diagnostic radiology, interventional radiology, radiotherapy, and nuclear medicine, respectively; and 1.10, 1.55, and 1.80 mGy for job titles of nurse, technician, and physician, respectively. Differences in DT by gender, age, years of radiological work, age of radiation exposure onset, occupational category, and job title were statistically significant (Z=−6.35, H=708.52, 918.20, 31.19, 95.64, 39.28, P<0.05). The positive rate of thyroid abnormalities in investigated workers was 46.53% (771/1657). Among them, the positive rate of abnormal thyroid function was 22.87% (379/1657), that of abnormal thyroid morphology was 33.98% (563/1657), and that of thyroid nodule was 26.55% (440/1657). The differences in thyroid abnormality rates by gender, age, years of radiation work, age of radiation exposure onset, DT, and job title of radiation workers were statistically significant (χ2=51.89, 49.64, 20.54, 18.29, 12.07, 16.16, P<0.05). The differences in abnormal thyroid function positive rate by gender, age of radiation exposure onset, and job title were statistically significant (χ2=26.21, 6.21, 8.32, P<0.05). The differences in the positive rates of abnormal thyroid morphology and nodules were statistically significant by gender, age, years of radiological work, age of radiation exposure onset, DT, and job title (abnormal thyroid morphology, χ2=40.24, 64.17, 37.63, 15.17, 19.28, 15.05; nodules, χ2=31.41, 77.98, 42.11, 19.16, 21.70, 13.52, P<0.05). The positive rates of thyroid abnormality, thyroid morphology abnormality, and nodules all showed a linear increasing trend with increasing age, years of radiation work, and age of radiation exposure onset (P<0.05). The results of logistic regression analysis indicated that the factors influencing thyroid abnormalities were female (OR=2.17, 95%CI: 1.72-2.74), increased years of radiological work (OR=1.04, 95%CI: 1.03-1.06), onset of radiation exposure in age groups of 30-34 and ≥35 years (OR=1.63, 95%CI: 1.12-2.37; OR=2.58, 95%CI: 1.74-3.29), and working in department of diagnostic radiology (OR=1.40, 95%CI: 1.07-1.84). Conclusion Long-term exposure to low doses of ionizing radiation has an effect on thyroid abnormalities in medical radiation workers. Among them, being female, physicians, and working in department of diagnostic radiology are at a higher risk of abnormal thyroid function; being female, increased years of radiation work, and radiation exposure onset at age ≥30 years are associated with a higher risk of reporting abnormal thyroid morphology.

Clinical analysis of chronic mild occupational carbon disulfide poisoning / 中国职业医学

Objective: To analyze clinical features and electroneuromyography (ENMG) results of chronic mild occupational carbon disulfide poisoning cases. Methods: A total of 344 patients diagnosed with chronic mild occupational carbon disulfide poisoning based on GBZ 4-2002 Diagnostic Criteria of Occupational Chronic Carbon Disulfide Poisoning were selected as study subjects from 2006 to 2019 using the retrospective study method. Their clinical data was collected and analyzed. Results: The main symptoms of the study subjects were dizziness, headache, insomnia, dreaming, memory impairment, numbness and weakness in the distal extremities. Positive signs mainly included symmetrical glove and stocking distribution like sensory disorders in the distal extremities, and the weakening or absent Achilles tendon reflex and knee reflex. The incidence of symptoms and signs increased with the length of service (all P<0.01). The incidence of fundus and venous changes in patients was 41.3%, which increased with the length of service (P<0.01). ENMG examination showed varying degrees of abnormalities in the peripheral motor and/or sensory nerves in all patients, with a higher incidence of motor nerve abnormalities than sensory nerve abnormalities (21.1% vs 3.7%, P<0.01). The incidence of motor nerve abnormality was higher on the right side than the left side (23.7% vs 18.5%, P<0.01). The incidences of motor nerve abnormalities from high to low in the order were median nerve, common peroneal nerve, ulnar nerve and posterior tibial nerve (34.9% vs 27.9% vs 16.6% vs 5.1%, P<0.01). The incidences of sensory nerve abnormalities from high to low in the order were median nerve, ulnar nerve and sural nerve (5.2% vs 5.1% vs 0.7%, P<0.01). The incidences of left ulnar nerve, right ulnar nerve and right median nerve were higher in male patients than in female patients (15.2% vs 5.3%, 24.0% vs 11.7%, 44.8% vs 28.7%, all P<0.05), while the incidences of the left and right common peroneal nerve in lower extremity motor nerve were lower in male patients than in female patients (18.4% vs 52.1%, 21.2% vs 46.8%, all P<0.01). Conclusion: Chronic mild occupational carbon disulfide poisoning was mainly manifested as multiple peripheral nerve injury. ENMG results showed that the distal motor nerve conduction abnormalities were more sensitive than the sensory nerve conduction abnormalities, with a higher degree of impairment in the upper limb than the lower limb, and more impairment in the right side than the left side.

Clinical characteristics and treatment of spinal cord injury in children and adolescents / 中华创伤杂志(英文版)

Pediatric and adult spinal cord injuries (SCI) are distinct entities. Children and adolescents with SCI must suffer from lifelong disabilities, which is a heavy burden on patients, their families and the society. There are differences in Chinese and foreign literature reports on the incidence, injury mechanism and prognosis of SCI in children and adolescents. In addition to traumatic injuries such as car accidents and falls, the proportion of sports injuries is increasing. The most common sports injury is the backbend during dance practice. Compared with adults, children and adolescents are considered to have a greater potential for neurological improvement. The pathogenesis and treatment of pediatric SCI remains unclear. The mainstream view is that the mechanism of nerve damage in pediatric SCI include flexion, hyperextension, longitudinal distraction and ischemia. We also discuss the advantages and disadvantages of drugs such as methylprednisolone in the treatment of pediatric SCI and the indications and timing of surgery. In addition, the complications of pediatric SCI are also worthy of attention. New imaging techniques such as diffusion tensor imaging and diffusion tensor tractography may be used for diagnosis and assessment of prognosis. This article reviews the epidemiology, pathogenesis, imaging, clinical characteristics, treatment and complications of SCI in children and adolescents. Although current treatment cannot completely restore neurological function, patient quality of life can be enhanced. Continued developments and advances in the research of SCI may eventually provide a cure for children and adolescents with this kind of injury.

Perioperative Techniques and Long-term Outcomes in Hypospadias: A Systematic Review

@#Introduction: Hypospadias is a condition when the urethra distal opens on the bottom of the penis and has a ventral penile curvature. Hypospadias is the second most frequent genital birth abnormality in boys after cryptorchidism. Surgery is the standard treatment of choice and has a significant risk problem. There are many surgical procedure complications, especially in appearance and function. This article discusses the appropriate operative management and the best long-term outcome. Methods: The data was culled and selected from the ten years of full-text English publication (2012-2022) utilizing the PubMed and Google Scholar databases. Meta-analyses (PRISMA) paradigm and PICO investigation of management techniques and long-term outcomes in clinical and randomized clinical trials. Result: From 149 search articles, 7 met the inclusion criteria. The gland penis size and the meatal location did not affect the outcome of the surgical technique. However, 58/432 patients required reoperation, and 61(13%) had urethroplasty complications (UC), although not statistically significant (OR 0.8, 95% CI: 0.7-0.9). Testosterone is advised for small penises, narrow glands, thin urethral plates, and proximal hypospadias (67 vs. 87%). Preoperative antibiotics reduce the incidence of infection (17/150 repairs), tubularized incised plate (TIP), and the stent is recommended. Conclusion: The recommended strategies are good perioperative treatment, including antibiotics, testosterone treatment, surgery ages (6-18 months), tubularized incised plate (TIP) technique, and stent postoperative.

Correlation between high myopia paravascular abnormalities and myopic traction maculopathy / 中华眼底病杂志

Objective:To observe the morphological characteristics of high myopia (HM) paravalvular abnormalities (PVA), and the correlation between different manifestations of PVA and myopic traction maculopathy (MTM) was analyzed.Methods:A cross-sectional clinical study. A total of 42 middle-aged and elderly patients with HM and PVA diagnosed by ophthalmology examination in Department of Ophthalmology, The Second Hospital of Hebei Medical University from June to December 2021 were included in the study. There were 24 eyes in 16 males and 48 eyes in 26 females. Age was (56.71±8.10) years old. Diopter was (-13.05±3.10) D. Axial length (AL) was (28.22±1.04) mm. According to the characteristics of ultra-wide-angle optical coherence tomography images, PVA morphology was divided into paravascular microfolds (PM), paravascular cysts (PC) and paravascular lamellar holes (PLH). MTM was divided into T0-T5 grades, of which MTM≥T3 was defined as severe MTM. The state of vitreoretinal junction was observed and the state of posterior vitreous detachment (PVD) was recorded, which divided into complete PVD and partial PVD. Partial PVD was divided into macular fovea adhesions and paravascular adhesions according to the vitreoretinal adhesions. Posterior scleral staphyloma (PS) was divided into 6 types by ultra-wide-angle fundus photography. Logistic regression model was used to analyze the factors related to MTM.Results:In 72 eyes, PM, PC and PLH were 72 (100.0%, 72/72), 62 (86.1%, 62/72) and 29 (40.3%, 29/72) eyes, respectively. Among them, there were 10 (13.9%, 10/72) eyes with PM alone, 33 (45.8%, 33/72) eyes with PM and PC, and 29 (40.3%, 29/72) eyes with PM, PC and PLH, respectively. There were 42 eyes with partial PVD (58.3%, 42/72), among which the macular fovea and paravascular adhesion were 22 (52.4%, 22/42) and 24 (57.1%, 24/42) eyes, respectively. PS was present in 50 eyes (69.4%, 50/72), among which 27 (54.0%, 27/50), 21 (42.0%, 21/50), 1 (2.0%, 1/50), and 1 (2.0%, 1/50) eyes were types Ⅰ to Ⅳ, respectively. Multivariate logistic regression analysis showed that AL[odds ratio ( OR)=16.139, 95% confidence interval ( CI) 4.062-64.120, P<0.001], PS ( OR=4.212, 95% CI 1.234-14.378, P=0.022), paravascular vitreoretinal adhesion (OR=3.478, 95% CI 11.124, P=0.036) were risk factors for PM, PC and PLH. MTM was present in 58 eyes (80.6%, 58/72), among which T1 was the most common type in 19 eyes (26.4%, 19/72). Univariate logistic regression analysis showed that the occurrence of MTM was significantly correlated to PS ( OR=4.190, 95% CI 1.240-14.157, P=0.021), coexistence of PM, PC and PLH ( OR=11.323, 95% CI 1.389-92.311, P=0.023), and PS were significantly correlated. There was no correlation with PVD ( OR=1.889, 95% CI 0.580-6.150, P=0.291) or PS ( OR=2.778, 1.786; 95% CI 0.700-11.023; 0.445-7.167; P=0.146, 0.413). There was significant difference in the incidence of severe MTM between PM alone, PM combined with PC and coexistence of PM, PC and PLH ( χ2=20.943, P<0.001). Conclusions:PM is the most common and earliest manifestation of PVA in middle-aged and elderly HM patients. AL, PS and paravascular vitreoretinal adhesion are risk factors for PM, PC and PLH. The coexistence of three PVA forms may be a marker of severe MTM.

Correlation between serum non-high density lipoprotein cholesterol and bone mass levels in different body parts in physical examination population / 中华健康管理学杂志

Objective:To compare the relationship between non-high-density lipoprotein cholesterol (non-HDL-C) and bone mass in different body parts in the physical examination population.Methods:It was a cross-sectional study. The data of 595 physical examiners who visited the Institute of Health Management, PLA General Hospital from June to September 2016 were retrospectively analyzed. The bone mass levels of lumbar 1-4 vertebral body (spine) and femur, average bone density were measured by double light energy X-ray bone density instrument. The basic information and biochemical indices of the physical examiners were collected. The difference between blood lipid components (including Non-HDL-C) and bone mass level of each body part were analyzed.Results:According to blood lipid stratification, there were significant differences in spine T value (T-spine) between triglyceride (TG) groups (-0.15±1.41 vs -0.38±1.3), Non-HDL-C groups (-1.01±0.74 vs -1.21±0.59, -1.04±0.73 vs -1.30±0.45,-1.07±0.71 vs -1.30±0.26) and low-density lipoprotein cholesterol (LDL-C) groups (-1.01±0.71 vs -1.32±0.56)(all P<0.05). There was no statistically significant difference in other lipid groups and femoral T values in each component′s blood lipids. The T-spine decreased significantly in the LDL-C≥3.4 mmol/L group, and the differences were all significant among the Non-HDL-C group (all P<0.05). In binary logistic regression analysis, LDL-C≥3.4 mmol/L ( OR=3.961,95% CI:1.310-11.974) and Non-HDL-C>4.1 mmol/L ( OR=3.600,95% CI:1.035-12.524) were risk factors for vertebral bone mass loss (both P<0.05). Conclusion:People with elevated serum TG, Non-HDL-C and LDL-C in the physical examination population are prone to bone abnormalities. Non-HDL-C≥4.1 mmol/L and LDL-C≥3.4 mmol/L are more closely related to the vertebral bone mass loss and are the risk factors for vertebral bone mass loss.

Clinical characteristics and prognosis of children with spinal cord injury without radiologic abnormality caused by non-severe violence / 中国小儿急救医学

Objective:To investigate the causes, diagnosis, treatment and prognosis of children with spinal cord injury without radiologic abnormality caused by non-severe violence, and to raise the awareness of spinal cord injury in children.Methods:Retrospective analysis was performed on the age of onset, injury mechanism, main clinical symptoms and occurrence time, treatment process and recovery of children with spinal cord injury without radiologic abnormality caused by non-severe violence. The children were admitted to our hospital from August 2015 to September 2020. Abnormal findings in spinal cord MRI in acute stage were analyzed, and long-term prognosis was followed up by telephone. The degree of spinal cord injury was determined according to the criteria established by the American Spinal Cord Injury Association.Results:Of six patients, three boys and three girls, aged from 16 months to 8 years old.Injury mechanism: fall on the bed, a sudden fall in standing position, fall while jumping in sports.All of the symptoms appeared immediately after trauma, such as limb weakness, pain, unable to walk, urination disorders.Treatment process: spinal immobilization, methylprednisolone pulse therapy[20 mg/(kg·d)], alleviat edema and protect the nerve system, necessary symptomatic treatment including urethral catheterization, the use of antibiotics, timely rehabilitation treatment.No fracture or dislocation was found in all six patients by spinal cord radiometric examination, and MRI of spinal cord indicated abnormal signals of thoracic cord or below. The recovery sequence of spinal cord function: urination function recovery, pain from lower limbs relief, lower limbs weakness improvement.By the time of follow-up by telephone, the course of disease was 1 to 5 years. Urine fecal incontinence was found in one patient, and his muscle strength of both lower extremities belong to grade Ⅰ, atrophic changes were found in spinal cord MRI.The remaining five patients were able to walk independently, complained of leg pain during long distance walking, mild varus or valgus, and no obvious abnormality in spinal cord MRI.Conclusion:In daily activities, except bend down in dancing, falling on the sacral tail is easy to cause spinal cord injury without fracture and dislocation in children. The damaged spinal cord function often cannot recover thoroughly, and even cannot recover. It is advisable to identify early, formulate comprehensive treatment measures in time, strive to improve the prognosis.

Related factors and prediction model for neurological outcome of dance-associated pediatric spinal cord injury without radiographic abnormality / 中国康复理论与实践

ObjectiveTo investigate the neurological outcome of children with dance-associated spinal cord injury without radiographic abnormality (SCIWORA) and explore its related factors and predictive model. MethodsFrom July, 2012 to January, 2022, 75 children with dance-associated SCIWORA hospitalized in Beijing Bo'ai Hospital were divided into improved group (n = 14) and non-improved group (n = 61) according to the American Spinal Injury Association Impairment Scale (AIS) grade a year later, and the related factors were analyzed. ResultsAll patients were girls aged four to ten years. Most of them were complete spinal cord injuries (52/75, 69%). The time of injury to rehabilitation (OR = 0.926, P = 0.046, 95%CI 0.858 to 0.999), the existing tendon reflex (OR = 46.915，P = 0.012, 95%CI 2.333 to 943.616) and muscle tension (OR = 8.932，P = 0.044，95%CI 1.063~75.067) were correlated with the AIS grade improvement. The combination of time of injury to rehabilitation, tendon reflex and muscle tone existing may predict the improvement of AIS (AUC = 0.953, P < 0.001，95%CI 0.878 to 0.989), the sensitivity and specificity were 100% and 83.61%, respectively. ConclusionThe neurological outcome of children with dance-associated SCIWORA is poor. Rehabilitation training as soon as possible is beneficial to the neurological recovery. Tendon reflexe and muscle tone existing at admission are closely related to improvement of neurological outcome, which could be used as potential indicators.

Effect of varying dietary crude protein and metabolizable energy levels on leg abnormalities and performance in broiler chickens

Background: Nutrient restriction is a common strategy to prevent metabolic disorders in fast growing broiler chickens, but limited information is available regarding the impact of diets with low protein and energy on leg abnormalities Objective: Two experiments were conducted to evaluate the effect of varying crude protein (CP) and metabolizable energy (ME) levels on gastrocnemius tendon (GTeBS) and tibia breaking strength (TiBS), gait score (GS) and valgus/varus angulation (VAng). Methods: In Experiment 1, eight-d-old Ross 308 broilers (n=90) were randomly assigned into three treatments: 13/2,900 (13% CP and 2,900 kcal ME kg-1 of diet), 17/3,000 (17% CP and 3,000 kcal ME kg-1 of diet), and 21/3,025 or control (21% CP and 3,025 kcal ME kg-1 of diet). In Experiment 2, six-d-old Ross 308 chickens (n=192) were randomly distributed into two treatments: 16/3,000; 16% CP and 3,000 kcal ME kg-1 of diet and 21/3,000 or control; 21% CP and 3,000 kcal ME kg-1 of diet. In both experiments data were analyzed as one-way ANOVA. Results: In Experiment 1, broilers in the 17/3,000 and control treatments had similar (p>0.05) GTeBS (202 and 224 N, respectively), and TiBS (338 and 332 N, respectively). Birds in the 13/2,900 treatment showed higher GS (lower walking ability; 80% of birds with score >3), and greater VAng (53% of birds with score >2) than broilers in the control treatment (0% of birds with GS score >3 and 0% of birds with VAng score >2). Experiment 2, broilers in the 16/3,000 showed similar VAng, GS and TiBS than birds in the control treatment. However, birds in the 16/3,000 treatment showed lower (-26%) GTeBS than birds in the control treatment (p<0.05). Conclusions: Feeding broilers with 16% CP and 3,000 kcal ME kg-1 of diet did not affect tibia breaking strength, gait score and valgus/varus angulation. A diet containing 16% CP or less and 2,900-3,000 kcal ME kg-1 reduces tendon and tibia breaking strength.

Antecedentes: La restricción de nutrientes es una estrategia común para prevenir trastornos metabólicos en pollos de engorde, sin embargo, se dispone de información limitada sobre el impacto de las dietas bajas en proteína y energía en las anomalías de piernas. Objetivo: Se llevaron a cabo dos experimentos para evaluar el efecto de niveles variables de proteína cruda (PC) y energía metabolizable (EM) en la fuerza de rotura del tendón del gastrocnemio (GTeBS) y tibia (TiBS), la evaluación de marcha (GS) y la angulación en valgus/varus (VAng). Métodos: En el Experimento 1, pollos de engorde Ross 308 de ocho días de edad (n = 90) se asignaron al azar en tres tratamientos: 13/2.900; 13% PC y 2.900 kcal ME kg-1 de dieta, 17/3.000; 17% PC y 3.000 kcal ME kg-1 de dieta y 21/3.025 o control; 21% PC y 3.025 kcal ME kg-1 de dieta. En el Experimento 2, pollos Ross 308 de seis días de edad (n = 192) se distribuyeron aleatoriamente en dos tratamientos: 16/3.000; 16% PC y 3.000 kcal ME kg-1 de dieta y 21/3.000 o control; 21% PC y 3.000 kcal ME kg-1 de dieta. En ambos experimentos los datos se analizaron como ANOVA de una vía. Resultados: En el Experimento 1, los pollos de los tratamientos 17/3.000 y control tuvieron GTeBS (202 y 224 N, respectivamente) y TiBS (338 y 332 N, respectivamente) similares (p>0,05). Las aves del tratamiento 13/2.900 mostraron mayor GS (menor capacidad para caminar; 80% de las aves con puntaje >3) y mayor VAng (53% de las aves con puntaje >2) que los pollos del tratamiento control (0% de aves con un puntaje GS >3 y 0% de aves con un puntaje VAng >2). En el Experimento 2, los pollos del 16/3.000 mostraron VAng, GS y TiBS similares a los de las aves del tratamiento control. Sin embargo, las aves del tratamiento 16/3.000 mostraron menor (-26%) GTeBS que las aves control (p<0,05). Conclusiones: La alimentación de pollos de engorde con 16% PC y 3.000 kcal EM kg-1 de dieta no afecta la resistencia a la ruptura de la tibia, la marcha y la angulación valgus/varus. La dieta formulada con 16% de PC o menos y 2.900-3.000 kcal de EM kg-1 reduce la resistencia a la ruptura del tendón y de la tibia.

Antecedentes: A restrição de nutrientes é uma estratégia comum para prevenir distúrbios metabólicos em frangos de corte, no entanto, há informações limitadas disponíveis sobre o impacto de dietas de baixa proteína e baixa energia nas anormalidades de pernas destas aves. Objetivo: Dois experimentos foram realizados para avaliar o efeito de diferentes níveis de proteína bruta (PB) e energia metabolizável (EM) em força de ruptura do tendão do músculo gastrocnêmio (GTeBS), forca de ruptura da tíbia (TiBS), gait score (GS) e angulação em valgus/varus (VAng). Métodos: Experimento 1, foram utilizados 308 frangos de corte machos da linhagem Ross com oito dias de idade (n = 90) distribuidos aleatoriamente em três tratamentos: dieta controle com 21% PB e 3.025 kcal EM kg-1 13/2.900; dieta con 13% PB e 2.900 kcal EM kg-1, y 17% PB e 3.000 kcal EM kg-1 . Experimento 2, foram utilizados 308 frangos de corte da linhagem Ross com seis dias de idade (n = 192) distribuídos aleatoriamente em dois tratamentos: dieta controle con 21% PB e 3.000 kcal EM kg-1 e dieta com 16% PB e 3.000 kcal EM kg-1 . Em ambos os experimentos, os dados foram submetidos a ANOVA. Resultados: Experimento 1, os frangos de corte submetidos ao dos tratamentos 17/3.000 e controle nao apresentaram diferencas significativas (p>0,05) para as variáveis GteBS (202 y 224 N, respectivamente) e TiBS (338 y 332 N, respectivamente). Os frangos submetidos ao 13/2.900 apresentaram maior frequência de GS (menor capacidade de locomocao; 80% das aves com pontuação>3) e maior VAng (53% das aves com pontuação>2) do que os frangos do tratamento controle (0% das aves com pontuação GS>3 e 0% das aves com pontuação VAng>2). Experimento 2, os frangos do 16/3.000 apresentaram VAng, GS e TiBS semelhantes aos das aves do tratamento controle. Entretanto, as aves do tratamento 16/3.000 apresentaram GTeBS mais baixo (-26%) em comparacao as aves do tratamento de controle (p<0,05). Conclusões: A dieta com 16% PB e 3.000 kcal EM kg-1 não afetou a forca de ruptura da tíbia, gaite score marcha e angulação em valgus/varus de frangos de corte. Uma dieta com níveis de 16% de PB ou menos e 2.900-3.000 kcal EM kg-1 reduziu a resistência à ruptura do tendão e a resistência de tibia de frangos de corte.

Behavior of the Genetic Markers at Screening during the First Trimester of Pregnancy in Euploid Fetuses / Comportamento dos marcadores genéticos na triagem durante o primeiro trimestre de gravidez em fetos euploides

Abstract Objective This study aims to describe the behavior of chromosomopathy screenings in euploid fetuses. Methods This is a prospective descriptive study with 566 patients at 11 to 14 weeks of gestation. The associations between ultrasound scans and serological variables were studied. For the quantitative variables we used the Spearman test; for the qualitative with quantitative variables the of Mann-Whitney U-test; and for qualitative variables, the X2 test was applied. Significance was set at p ≤ 0.05. Results We have found that gestational age has correlation with ductus venosus, nuchal translucency, free fraction of β subunit of human chorionic gonadotropin, pregnancy-associated plasma protein-A and placental growth factor; there is also a correlation between history of miscarriages and nasal bone. Furthermore, we correlated body mass index with nuchal translucency, free fraction of β subunit of human chorionic gonadotropin, and pregnancy-associated plasma protein-A. Maternal age was associated with free fraction of β subunit of human chorionic gonadotropin and pregnancy-associated plasma protein-A. Conclusion Our study demonstrates for the first time the behavior of the biochemical and ultrasonographic markers of chromosomopathy screenings during the first trimester in euploid fetuses in Colombia. Our information is consistent with international reference values. Moreover, we have shown the correlation of different variables with maternal characteristics to determine the variables that could help with development of a screening process during the first trimester with high detection rates.

Resumo Objetivo Este estudo tem como objetivo descrever o comportamento do rastreamento de cromossomopatias em fetos euploides. Métodos Trata-se de um estudo prospectivo descritivo com 566 pacientes, entre 11 e 14 semanas de gestação. A associação entre a ultrassonografia e as variáveis sorológicas foi estudada. Para as variáveis quantitativas foi utilizado o teste de Spearman; para as qualitativas com variáveis quantitativas foi utilizado o teste U de Mann-Whitney e para as variáveis qualitativas foi aplicado o teste X2. A significância foi fixada em p ≤ 0,05. Resultados Constatou-se que a idade gestacional tem correlação com o ducto venoso, translucência nucal, fração livre da subunidade β da gonadotrofina coriônica humana, proteína plasmática A associada à gravidez e fator de crescimento placentário; há também correlação entre a história de abortos e o osso nasal. Além disso, correlacionamos o índice de massa corporal com translucência nucal, fração livre da subunidade β da gonadotrofina coriônica humana e proteína plasmática A associada à gravidez. A idade materna foi relacionada com fração livre da subunidade β da gonadotrofina coriônica humana e proteína plasmática A associada à gravidez. Conclusão Nosso estudo demonstra pela primeira vez o comportamento dos marcadores bioquímicos e ultrassonográficos de triagem de cromossomas durante o primeiro trimestre em fetos euploides na Colômbia. Nossa informação é consistente com a referência de valores internacionais. Além disso, mostram-se as relações das diferentes variáveis com as características maternas para determinar as variáveis capazes de ajudar no desenvolvimento de um processo de rastreamento durante o primeiro trimestre com alta taxa de detecção.

Iridochorioretinal coloboma associated with buried optic nerve drusen: a case report / Coloboma irido-coriorretiniano associado a drusas enterradas do nervo óptico: Relato de caso

ABSTRACT Improper closure of the embryonic fissure results in ocular coloboma. Optic nerve head drusen are hyaline deposits located anterior to the lamina cribosa that grow and calcify over time. It is rarely associated with ocular coloboma, with only two cases reported. We present a patient with an irido-chorioretinal coloboma, poorly defined optic nerve limits in the right eye, and increased papillary vascular ramification and peripapillary atrophy in the left eye, without any visible drusen. Fundus autofluorescence, high-resolution optical coherence tomography, and B-scan ultrasonography confirmed the diagnosis of bilateral buried optic nerve head drusen. The association between irido-chorioretinal colobomas and optic nerve drusen in the absence of a systemic disease is exceptional. Our case demonstrates that multimodal imaging is important to correctly diagnose buried optic nerve head drusen.

RESUMO O coloboma ocular é o resultado de um fechamento impróprio da fissura embrionária. As drusas da cabeça do nervo óptico são depósitos hialinos localizados anteriormente à lâmina cribosa que crescem e se calcificam com o tempo. A associação de ambos é rara, com apenas dois casos descritos na literatura. Apresentamos um paciente com coloboma irido-coriorretiniano e limites do nervo óptico mal definidos em seu olho direito, e aumento da ramificação vascular papilar e atrofia peripapilar em seu olho esquerdo, sem drusas visíveis. Autofluorescência de fundo, tomografia de coerência óptica de alta resolução e ultrassonografia B-scan foram realizadas confirmando o diagnóstico de drusas enterradas bilaterais da cabeça do nervo óptico. A associação entre colobomas irido-coriorretinianos com drusas do nervo óptico na ausência de doença sistêmica é excepcional. Nosso caso demonstra a importância da imagem multimodal para o diagnóstico correto de drusas enterradas de cabeça do nervo óptico.

Ophthalmological manifestations of the Schuurs-Hoeijmakers syndrome: a case report / Manifestações oftalmológicas da Síndrome de Schuurs-Hoeijmakers: relato de caso

ABSTRACT This is a case report of a 2-year-old male patient with cognitive delay, facial abnormalities, and microcornea in the right eye, who was referred for ophthalmological investigation. The initial ophthalmological examination revealed hypertelorism, epicanthus, nystagmus, esotropia, and microcornea in the right eye. The examination under anesthesia revealed microphthalmia in the right eye, and iris, retina, and optic nerve coloboma in both eyes. Whole exome sequencing revealed evidence of a heterozygotic pathogenic variant in PACS1. The PACS1 pathogenic variant in association with the clinical findings confirmed the diagnosis of Schuurs-Hoeijmakers syndrome. To our knowledge, this is the first report to describe microcornea and microphthalmia as additional ocular manifestations of Schuurs-Hoeijmakers syndrome.

RESUMO Trata-se de um relato de caso de um paciente do sexo masculino de 2 anos de idade com atraso cognitivo, anormalidades faciais e microcórnea no olho direito encaminhado para investigação oftalmológica. O exame oftalmológico inicial evidenciou hipertelorismo, epicanto, nistagmo, esotropia e microcórnea no olho direito. O exame sob anestesia revelou microftalmia no olho direito e coloboma de íris, retina e nervo óptico em ambos os olhos. Foi realizado sequenciamento completo do exoma que mostrou uma variante patogênica heterozigótica no PACS1. A variante patogênica no PACS1 em associação com os achados clínicos apresentados confirmou o diagnóstico da síndrome de Schuurs-Hoeijmakers). Acredita-se este seja o estudo a descrever microcórnea e microftalmia como manifestações oculares adicionais da síndrome de Schuurs-Hoeijmakers.

MRI findings and pathological analysis of intramuscular fibro-adipose vascular anomaly / 中华放射学杂志

Objective:To investigate the MRI and pathological features of intramuscular fibro-adipose vascular anomaly (FAVA).Methods:The clinical and imaging data of 44 patients with intramuscular FAVA confirmed by pathology from December 2012 to March 2021 in Henan Province People′s Hospital were retrospectively analyzed. Twenty-five females and 19 males were included, with the age of (15±6), from 5 to 29 years old. The clinical and MRI features including the type, location, boundary, signal intensity, enhancement mode and degree, and the vascular flow voids in the lesion were summarized and compared with pathological results.Results:The thigh and calf muscles were involved in 1 patient simultaneously, and 1 site was involved in 43 patients, including 20 calf muscles, 15 thigh muscles, 5 forearm muscles, 1 upper arm muscle, 1 gluteal muscle, and 1 shoulder muscle. The gastrocnemius muscle of lower leg was most commonly involved (13/44), followed by soleus muscle (10/44) and quadriceps femoris muscle (9/44). All the lesions were solid on MRI, including 24 cases of focal mass type, 15 cases of diffuse infiltration type and 5 cases of local infiltration type. The long axis of all the lesions were consistent with the long axis of the muscles. All lesions showed inhomogeneously moderate hyperintensity on T 1WI and T 2WI, and significantly hyperintensity on fat suppression T 2WI. All lesions showed tortuous and dilated abnormal vessels, of which 18 cases showed vascular flow voids. Thrombosis was found in 10 cases. On contrast-enhanced imaging, the lesions showed moderate to obvious inhomogeneous enhancement. Pathologically, the diseased skeletal muscle was infiltrated by fibrous tissue, fat components, irregular abnormal veins and vessels, which led to inhomogeneous MRI signals. Among the 7 patients who underwent human PIK3CA gene mutation detection, and 6 were mutant. Conclusions:Intramuscular FAVA has certain characteristics in clinic, MRI imaging and histopathology, and its MRI signal characteristics can reflect its complex pathological components.

Value of chromosomal microarray analysis for genetic evaluation of fetal ultrasound abnormality / 中国辐射卫生

Objective To evaluate the value of chromosomal microarray analysis (CMA) for genetic evaluation of fetal ultrasound abnormality. Methods A total of 180 pregnant women with fetal abnormality detected by prenatal ultrasound diagnosis in the first trimester during the period from January 2020 through May 2022 were enrolled as the study subjects. All prenatal fetal screening samples were subjected to G-band karyotyping and CMA. Results G-band karyotyping detected normal karyotypes in 168 samples (93.85%) and abnormal karyotypes in 11 samples (6.15%), and CMA detected 17 positive samples (9.44%) and 163 negative samples (90.56%). The seventeen positive samples included 11 pathogenic copy number variations (CNVs) and 6 variants of unknown significance (VOUS), and there were 11 CMA-positive results consistent with G-band karyotyping, and 6 additional pathogenic CNVs mainly included microdeletion and microduplication syndromes. The detection rates of pathogenic CNVs were 11.11%, 2.63%, 2.78%, 4.00%, 0, 0, 11.11% and 0 among the fetuses with abnormal structure of the cardiovascular system, the lymphatic system, the nervous system, the digestive system, the cranial and face system, the skeletal system, the urinary system, and other system (χ2 =8.188, P = 0.316). All eleven fetuses with pathogenic CNVs detected by CMA were all induced for abortion. Conclusion CMA improves the detection of genetic abnormality among fetuses with ultrasound abnormality in relative to G-band karyotyping, which is feasible for prenatal cytogenetic diagnosis among fetuses with ultrasound abnormality

Pre-attentive processing in autism spectrum disorder / 中华行为医学与脑科学杂志

Autism spectrum disorder (ASD) is a neurodevelopmental disorder.Its typical symptoms include social disorder, stereotyped behavior and restrictive interest.In addition, sensory abnormality is also a common symptom of ASD individuals.Pre-attentive processing is an automatic cognitive process that takes place before attention and is independent of consciousness, which reflects the ability to automatically detect changes in the environment of brain.Many researches show that the sensory abnormality and social ability disorder in ASD patients may be related to the defects in the pre-attentive processing stage.Mismatch negativity (MMN) is the most commonly used indicator of pre-attentive processing.ASD individuals show abnormal MMN in response to both social and non-social stimulus.Among them, the pre-attentive processing defect of non-social stimuli in ASD individuals is manifested as the amplitude or latency of MMN induced by single tones, voice or visual stimuli, which is different from that of normal people.The pre-attentive processing defect of social stimuli in ASD individuals is manifested as the amplitude or latency of MMN induced by emotional voice and emotional face, which is different from that of normal people.This result not only helps to find the physiological mechanism of sensory and social disorders in ASD individuals, but also provides theoretical support for MMN as an auxiliary diagnostic index of ASD.Future research on the pre-attentive processing of ASD individuals should pay more attention to enriching the research paradigms of MMN and adopting more kinds of social stimuli.At the same time, the influence of ASD genetic factors on MMN can also be one of the concerns of future research.

Progress of sensory abnormality and intervention in children with autism spectrum / 中华实用儿科临床杂志

Autism spectrum disorder (ASD) is a group of neurodevelopmental behavioral disorders, with the annually increased incidence in recent years.As one of the core symptoms of ASD, sensory abnormality not only affects the skill acquisition of affected children, but also brings great pain to caregivers and families.It is shown that early intervention of sensory abnormality can significantly improve the prognosis of ASD.However, early intervention depends on the early identification and diagnosis of sensory abnormality by clinicians.This study aims to review the clinical features, assessment tools, and intervention methods of sensory abnormalities in ASD children in recent years, thus contribu-ting to the accurate and effective diagnosis, and timely intervention of ASD.