Alternativa terapéutica para mejorar la calidad de vida en pacientes con fibrosis quística y discinesia ciliar primaria / Therapeutic alternative to improve quality of life in patients with cystic fibrosis and primary ciliary dyskinesia

Objective: To evaluate the clinical response of patients with cystic fibrosis and primary ciliary dyskinesia after endoscopic sinus surgery at the Dr. Robert Reid Cabral Children's Hospital from September 2021 to February 2022. Methods: An ambispective, cross-sectional, observational case series study was conducted, where the study population was made up of patients with cystic fibrosis and primary ciliary dyskinesia at the Dr. Robert Reid Cabral children's hospital during the study period. Inclusion criteria: Patients older than 6 years with a confirmed diagnosis of cystic fibrosis and primary ciliary dyskinesia (Genetic test with 2 homozygous mutations, positives electrolytes in sweat), severe respiratory symptoms of CRS that did not improve with conventional treatment and underwent endoscopic surgery for sinuses. Results: Of a total of 41 patients, only 10 met the inclusion criteria, the most prevalent age range was 14 to 18 years. Both CF and PCD patients decreased the frequency of CRS symptoms. After ENC, there were discrete changes in lung function, and only patients with severe to moderate disease increased % of FEV1. Most of the patients did not require admission after surgery. The most common germ found in nasopharyngeal and sputum cultures in preoperative patients was Pseudomonas aeruginosa in 86%; after ESS there was a significant increase in MRSA colonization in both CF and PCD patients. More than 50% of postoperative patients improved their quality of life, so endoscopic sinus surgery is effective in this population in the treatment of chronic rhinosinusitis.

Objetivo: Evaluar la respuesta clínica de los pacientes con fibrosis quística y discinesia ciliar primaria posterior a la cirugía endoscópica de senos paranasales en el Hospital Infantil Dr. Robert Reid Cabral en el período septiembre 2021 a febrero 2022. Métodos: Se realizó un estudio observacional tipo serie de casos, de corte transversal y ambispectivo, donde la población estudiada estuvo conformada por los pacientes con fibrosis quística y discinesia ciliar primaria del hospital infantil Dr. Robert Reid Cabral en el período de estudio. Criterios de inclusión: Pacientes mayores de 6 años con diagnóstico confirmado de fibrosis quística y discinesia ciliar primaria (Prueba genética con 2 mutaciones homocigotas, electrolitos en sudor positivos), síntomas respiratorios severos de RSC que no mejoraron con tratamiento convencional y sometidos a la cirugía endoscópica de senos paranasales. Resultados: De un total de 41 pacientes, sólo 10 cumplieron con los criterios de inclusión, el rango de edad más prevalente fue de 14 a 18 años. Tanto los pacientes con FQ como los de DCP disminuyeron la frecuencia de los síntomas de RSC. Posterior a la CEN hubo cambios discretos en la función pulmonar, y sólo los pacientes con enfermedad grave a moderada aumentaron el % de FEV1. La mayoría de los pacientes no ameritaron ingresos posterior a la cirugía. El germen más común encontrado en los cultivos nasofaríngeo y esputo en los pacientes preoperatorios fue la Pseudomonas aeruginosa en el 86%, luego de la CEN hubo un aumento significativo de la colonización por MRSA tanto en los pacientes con FQ como en los de DCP. Más del 50% de los pacientes postquirúrgicos mejoraron su calidad de vida, por lo que la cirugía endoscópica de senos paranasales es efectiva en dicha población en el tratamiento de la rinosinusitis crónica.

Outcomes of Endoscopic Sinus Surgery for Chronic Rhinosinusitis in Adults with Primary Ciliary Dyskinesia

Abstract Introduction Primary ciliary dyskinesia (PCD) is a rare inherited disease associated with impairment of mucociliary transport and, consequently, with a high incidence of chronic rhinosinusitis. For patients with chronic rhinosinusitis who remain symptomatic despite medical treatment, endoscopic sinus surgery is a safe and effective therapeutic option. However, to date, no studies have been found evaluating the effect of surgery on the quality of life associated with the effect on olfaction and nasal endoscopy findings of patients with primary ciliary dyskinesia and chronic rhinosinusitis. Objective To describe the effect of endoscopic sinus surgery on the quality of life, on olfaction, and on nasal endoscopy findings of adults with PCD and chronic rhinosinusitis. Methods Four patients who underwent endoscopic sinus surgery were included. The Sinonasal Outcome Test-22 (SNOT-22) score, the Nasal Obstruction Symptom Evaluation (NOSE) questionnaire, and the Lund-Kennedy score were collected preoperatively and at 3 and 6 months postoperatively. The olfaction as assessed with the University of Pennsylvania Smell Identification Test (UPSIT), which was administered preoperatively and 3 months postoperatively. Results A total of 4 patients with a mean age of 39.3 years old (3 men and 1 woman) completed the study. All patients showed clinically significant improvement in the SNOT-22, NOSE, and Lund-Kennedy scores at 3 months postoperatively, and this improvement was sustained throughout the follow-up period. However, olfaction did not improve after surgery. Conclusion The endoscopic sinus surgery treatment of chronic rhinosinusitis in adults with PCD was associated with improvement in quality of life and endoscopic findings. However, no improvement in olfaction was demonstrated. Studies with a larger number of patients and control groups should help confirm these findings.

A rare case of primary ciliary dyskinesia with Kartagener抯 syndrome - A case report

Primary ciliary dyskinesia (PCD) is an autosomal recessive hereditary disease that includes various forms of ciliary ultrastructural defects. The most serious form is Kartagener syndrome (KS), which accounts for 50% of all cases of PCD. Kartagener?s syndrome is a rare disorder and the prevalence is about 1 in 30,000. It is autosomal recessive ciliary disorder comprising the triad of situs inversus totalis, chronic sinusitis, and bronchiectasis. The defective movement of cilia leads to recurrent respiratory infections, and ear/ nose/ throat infections, and infertility. The diagnosis is made clinically and confirmed through electron microscopy, which reveals abnormalities of structural organization of the axoneme in cilia from respiratory epithelia and in spermatozoa. Underlying structural defects include 1) absent inner and/or outer dynein arms, 2) tubular defects, and 3) radial spoke defects. We hereby report a rare case of Kartagener?s syndrome, in an infertile male with immotile sperms. The clinician should have a high index of suspicion, so as to make an early diagnosis. An early diagnosis helps in making the options for timely treatment of infertility may be offered and unnecessary evaluation is avoided.

Computed Tomography Evaluation of the Paranasal Sinuses in Adults with Primary Ciliary Dyskinesia

Abstract Introduction Primary ciliary dyskinesia is a rare inherited disease that results in a malfunction of mucociliary clearance and sinonasal complaints. Aplasia/hypoplasia of the frontal and sphenoid sinuses has been described as more frequent in this population. However, to date, no studies have provided a detailed description of computed tomography findings in adult patients with a diagnosis of this condition. Objective To describe the computed tomography (CT) findings of adult patients with primary ciliary dyskinesia. Methods Retrospective observational study of adult patients with primary ciliary dyskinesia who underwent CT. Results Twenty-one adults were included in the study. Aplasia occurred in 38.1% of frontal sinuses and in 14.3% of sphenoid sinuses. Likewise, hypoplasia occurred in 47.6% of the frontal sinuses, in 54.8% of the sphenoid sinuses and in 40.5% of the maxillary sinuses. Furthermore, trabecular loss was identified in 61.9% ethmoidal sinuses. The mean Lund-Mackay score was 13.5. In addition, 9.5% of the patients had concha bullosa, 47.6% had marked bilateral inferior turbinate hypertrophy, 38.1% had marked middle turbinate hypertrophy, and 47.6% had marked septal deviation. Finally, we identified images suggestive of fungus ball, mucocele, osteoma, a possible antrochoanal polyp, and frontal bone erosions. Conclusion The present study provides a detailed description of CT findings in patients with primary ciliary dyskinesia. We also describe abnormalities that must be identified for safer surgical planning and that suggest a diagnosis of primary ciliary dyskinesia if found in patients with a consistent clinical picture.

ZHUANG Lixing's Experience in Differentiating and Treating Levodopa-Induced Dyskinesia in Parkinson's Disease / 中医杂志

This paper summarized Professor ZHUANG Lixing's clinical experience in differentiating and treating levodopa-induced dyskinesia （LID） in Parkinson's disease. It is believed that the fundamental pathogenesis of LID lies in the disharmony or malnourishment of tendons and vessels. Based on the clinical manifestations， peak-dose LID is differentiated into two syndromes： syndrome of hyperactive liver yang causing wind and syndrome of deficiency of both liver and kidney. For the syndrome of hyperactive liver yang causing wind， the treatment focuses on calming the liver to stop the wind， and relaxing the tendons to stop tremors. The main prescription used is Zhengan Xifeng Decoction （镇肝熄风汤） with the addition of Shijueming （石决明） and Zhenzhumu （珍珠母）. For the syndrome of deficiency of both liver and kidney， the treatment focuses on nourishing the liver and kidneys， and replenishing yin to stop the wind. The main prescription used is Dabuyin Pills （大补阴丸） with modification. LID in the acoustic phase is differentiated into syndrome of phlegm-damp blocking middle jiao and syndrome of deficiency of both qi and yin. For the syndrome of phlegm-damp blocking middle jiao， the treatment focuses on dissipating phlegm and eliminating dampness， and nurturing tendons and vessels. Wendan Decoction （温胆汤） or Erchen Decoction （二陈汤） with modification is used. For the syndrome of deficiency of both qi and yin， the treatment focuses on replenishing qi and nourishing blood， and nurturing tendons and vessels. The main prescriptions used are Buzhong Yiqi Decoction （补中益气汤） or Bazhen Decoction （八珍汤） or Shenling Baizhu Powder （参苓白术散） with modification. Biphasic LID is differentiated as the Shaoyang pivot disadvantageousness， and the treatment focuses on harmonizing Shaoyang and regulating the pivot. The main prescription used is Xiaochaihu Decoction （小柴胡汤） with modification.

Clinical phenotype and genetic characteristics of patients with typical 16p11.2 microdeletion syndrome / 中华神经科杂志

Objective:To analyze the clinical phenotype, copy number variation, treatment and follow-up characteristics of children with typical 16p11.2 deletion syndrome.Methods:The clinical data of 10 children with typical 16p11.2 deletion syndrome who were treated in the Department of Neurology, Children′s Hospital of Fudan University from August 2011 to December 2021 were retrospectively collected, and their clinical phenotype, copy number variation, treatment and follow-up were summarized.Results:Among the 10 children, 4 are female and 6 are male, all with epilepsy. Nine patients had epilepsy in infancy, and the age of onset was 6.0 (4.0, 8.5) months. Four cases had focal seizures (1 with fever), 4 had generalized tonic-clonic seizures, and 2 had focal seizures with generalized tonic-clonic seizures. Eight cases had cluster seizures (more than 2 to 10 seizures within 24 hours), and 1 case had 1 status epilepticus. Nine children did not show obvious developmental delay at the onset of epilepsy, and 1 child had developmental delay at the onset of epilepsy at 14 months of age. One child had parallel toes at left foot, and 1 had macrocephaly and low limb muscle tone. Genetic testing found that 10 children carried typical 16p11.2 heterozygous deletion, the starting position of the deletion fragment was Chr16:29478119-29675016, the ending position was Chr16:30125670-30206112, and the deletion length was 525-712 kb, all of which were considered pathogenic variants. In the antiepileptic drug treatment, 4 children were treated with oxcarbazepine, 2 with sodium valproate, 2 was switched to oxcarbazepine after levetiracetam was ineffective, 1 with levetiracetam combined with sodium valproate, and 1 with levetiracetam in combination with sodium valproate and ketogenic diet, and all 10 children had no seizures. One patient developed episodic exercise-induced dyskinesia at school age, and the seizures decreased after treatment with oxcarbazepine. Follow-up of 10 children found that 9 children had different degrees of developmental delay (language was significantly affected), 3 cases were combined with autism-like manifestations, and 1 case had poor comprehension, learning difficulties, and repeated grades after entering regular primary schools.Conclusion:The typical 16p11.2 microdeletion syndrome has the deletion of gene fragments in the proximal region of 16p11.2, characterized by drug-responsive cluster seizures with onset in infancy, which may be accompanied by language delay, autism spectrum disorder and nonspecific malformations.

Primary ciliary dyskinesia in children: a case report and literature review / 中国综合临床

Objective:To explore the clinical features and diagnostic methods of primary ciliary dyskinesia (PCD).Methods:A case of PCD diagnosed by Kunming Children's Hospital was analyzed retrospectively (including general information, clinical characteristics, auxiliary examination results), and the literature was reviewed.Results:The patient, an 8-year-old female, went to hospital for repeated cough and suffered from pneumonia and sinusitis repeatedly in the past. The electron microscope of cilia biopsy showed that the number of cilia was reduced. The mutation of c.7615T>C (p.W2539R) in DNA H5 gene located in chr5-13,809,290 was detected by gene test, so the patient was diagnosed as PCD.The mutation site was a new mutation site.Conclusion:PCD is a rare disease in children. Electron microscopy and genetic examination are helpful to the diagnosis of PCD. Children with recurrent respiratory tract infection and wet cough should be alert to the possibility of PCD.

Developmental and epileptic encephalopathy with dyskinesia caused by the FRRS1L gene mutation: a case report and literature review / 中华实用儿科临床杂志

The clinical characteristics and gene mutation profiles of a child who was treated in Xuzhou Children′s Hospital, Xuzhou Medical University in June 2022 due to developmental and epileptic encephalopathy (DEE) combined with dyskinesia caused by the FRRS1L gene mutation was analyzed retrospectively.A male case 1 year and 9 months old presented developmental delay since childhood, hypotonia at the age of 6 months, treatment-resistant seizures (focal clonic seizures) at the age of 1 year and 7 months that were unable to be controlled by antiepileptic drugs, and developmental regression and abnormal movements of the hands and feet during the attack.Whole exome sequencing showed 2 heterozygous variants (missense mutation and deletion mutation) in the FRRS1L gene of the child.The missense mutation c. 754C>T (p.R252C) located in the 4 th exon was inherited from his mother, and the deletion mutation c. 438_c.459del (p.I146fs*4) located in the 2 th exon was inherited from his father, thus constituting a compound heterozygous mutation.Through literature review, all 6 relevant literatures involving 31 children with DEE were published in foreign countries.They presented similar clinical manifestations to this case, but the genotypes were different, all of which were homozygous mutations.The FRRS1L gene mutation can lead to DEE, which is characterized by the autosomal recessive inheritance pattern, refractory epilepsy onset in infancy, developmental regression and prominent dyskinetic movements with hyperkinesia, and poor long-term prognosis.

Research progress on primary ciliary dyskinesia in children / 中华实用儿科临床杂志

Primary ciliary dyskinesia (PCD) is an inherited disease characterized by impaired ciliary ultrastructure and function.Respiratory symptoms are the most important clinical manifestations of PCD.More than 50 pathogenic genes responsible for PCD have been identified, which have been contributed to clarify the etiology of PCD.At present, special therapy and gold standard for the diagnosis of PCD are scant.Gene therapy can restore ciliary function.Gene testing can identify the genetic etiology of PCD, and promote the development of individualized gene therapy.This review aims to summarize the research progress on genetic etiology of PCD and its genetic testing and gene therapy.

Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients / 医学前沿

Primary ciliary dyskinesia (PCD) is a highly heterogeneous recessive inherited disorder. FAP54, the homolog of CFAP54 in Chlamydomonas reinhardtii, was previously demonstrated as the C1d projection of the central microtubule apparatus of flagella. A Cfap54 knockout mouse model was then reported to have PCD-relevant phenotypes. Through whole-exome sequencing, compound heterozygous variants c.2649_2657delinC (p. E883Dfs*47) and c.7312_7313insCGCAGGCTGAATTCTTGG (p. T2438delinsTQAEFLA) in a new suspected PCD-relevant gene, CFAP54, were identified in an individual with PCD. Two missense variants, c.4112A>C (p. E1371A) and c.6559C>T (p. P2187S), in CFAP54 were detected in another unrelated patient. In this study, a minigene assay was conducted on the frameshift mutation showing a reduction in mRNA expression. In addition, a CFAP54 in-frame variant knock-in mouse model was established, which recapitulated the typical symptoms of PCD, including hydrocephalus, infertility, and mucus accumulation in nasal sinuses. Correspondingly, two missense variants were deleterious, with a dramatic reduction in mRNA abundance from bronchial tissue and sperm. The identification of PCD-causing variants of CFAP54 in two unrelated patients with PCD for the first time provides strong supportive evidence that CFAP54 is a new PCD-causing gene. This study further helps expand the disease-associated gene spectrum and improve genetic testing for PCD diagnosis in the future.

Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice / 医学前沿

Primary ciliary dyskinesia (PCD) is a congenital, motile ciliopathy with pleiotropic symptoms. Although nearly 50 causative genes have been identified, they only account for approximately 70% of definitive PCD cases. Dynein axonemal heavy chain 10 (DNAH10) encodes a subunit of the inner arm dynein heavy chain in motile cilia and sperm flagella. Based on the common axoneme structure of motile cilia and sperm flagella, DNAH10 variants are likely to cause PCD. Using exome sequencing, we identified a novel DNAH10 homozygous variant (c.589C > T, p.R197W) in a patient with PCD from a consanguineous family. The patient manifested sinusitis, bronchiectasis, situs inversus, and asthenoteratozoospermia. Immunostaining analysis showed the absence of DNAH10 and DNALI1 in the respiratory cilia, and transmission electron microscopy revealed strikingly disordered axoneme 9+2 architecture and inner dynein arm defects in the respiratory cilia and sperm flagella. Subsequently, animal models of Dnah10-knockin mice harboring missense variants and Dnah10-knockout mice recapitulated the phenotypes of PCD, including chronic respiratory infection, male infertility, and hydrocephalus. To the best of our knowledge, this study is the first to report DNAH10 deficiency related to PCD in human and mouse models, which suggests that DNAH10 recessive mutation is causative of PCD.

The Dynamics of Dopamine D2 Receptor-Expressing Striatal Neurons and the Downstream Circuit Underlying L-Dopa-Induced Dyskinesia in Rats / 神经科学通报·英文版

L-dopa (l-3,4-dihydroxyphenylalanine)-induced dyskinesia (LID) is a debilitating complication of dopamine replacement therapy for Parkinson's disease. The potential contribution of striatal D2 receptor (D2R)-positive neurons and downstream circuits in the pathophysiology of LID remains unclear. In this study, we investigated the role of striatal D2R+ neurons and downstream globus pallidus externa (GPe) neurons in a rat model of LID. Intrastriatal administration of raclopride, a D2R antagonist, significantly inhibited dyskinetic behavior, while intrastriatal administration of pramipexole, a D2-like receptor agonist, yielded aggravation of dyskinesia in LID rats. Fiber photometry revealed the overinhibition of striatal D2R+ neurons and hyperactivity of downstream GPe neurons during the dyskinetic phase of LID rats. In contrast, the striatal D2R+ neurons showed intermittent synchronized overactivity in the decay phase of dyskinesia. Consistent with the above findings, optogenetic activation of striatal D2R+ neurons or their projections in the GPe was adequate to suppress most of the dyskinetic behaviors of LID rats. Our data demonstrate that the aberrant activity of striatal D2R+ neurons and downstream GPe neurons is a decisive mechanism mediating dyskinetic symptoms in LID rats.

ZHUANG Li-xing's experience in treatment of dyskinesia of Parkinson's disease with acupuncture at triple-acupoint prescription / 中国针灸

The paper introduces professor ZHUANG Li-xing's clinical experience in treatment of dyskinesia of Parkinson's disease with acupuncture at triple-acupoint prescription. In pathogenesis, dyskinesia of Parkinson's disease refers to yang deficiency and disturbing wind. In treatment, acupuncture focuses on warming yang, promoting the circulation of the governor vessel, regulating the spirit and stopping trembling; and Baihui (GV 20), Suliao (GV 25) and Dingchanxue (Extra) are selected to be "trembling relief needling". In combination with Jin's three needling, named "three-trembling needling" "three-governor-vessel needling" and "three-spasm needling", the triple-acupoint prescription is composed. To ensure the favorable therapeutic effect, this prescription is modified according to the symptoms and the specific techniques of acupuncture are combined such as conducting qi, harmonizing yin and yang, and manipulating gently for reinforcing and reducing.

Epileptic encephalopathy caused by the RHOBTB2 gene mutation: a case report and literature review / 中华实用儿科临床杂志

Clinical data (including clinical phenotype and gene mutation characteristics) of a case of epileptic encephalopathy carrying the RHOBTB2 gene mutation treated at the Department of Pediatric Neurology, Shandong Provincial Hospital Affiliated to Shandong First Medical University in June 2020 was analyzed retrospectively.Relevant literatures were reviewed as well.A male patient aged 3 months and 12 days presented with repeated convulsions for 2 days.The main symptoms included afebrile epileptic status, featuring eye deviation to the left, and limb tonic-clonic jerk lasting for about 30 minutes.Physical examinations showed that the child could not control his head and cried lowly.The whole exome sequencing data revealed a novel heterozygous variation in exon 7 of the RHOBTB2 gene: c.1448G>A(p.Arg483His). Seizures were controlled by the treatment of Levetiracetam combined with Topiramate, but remained growth retardation.The prognosis of epileptic encephalopathy caused by the RHOBTB2 gene mutation is poor, and most children have dyskinesia and microcephaly.

Advance in role of cilia in the pathogenesis of congenital heart disease / 国际儿科学杂志

Congenital heart disease(CHD)is one of the most common genetic diseases, mainly refers to the abnormal cardiovascular development caused by various abnormal factors during fetal development.Studies have found that the normal development of cardiovascular functional structure requires accurate positioning of the left-right asymmetry.As an essential link in body material metabolism and signal-transducing mechanism, cilia may participate in the pathogenesis of CHD by affecting the distribution of the left-right asymmetry of human organs and tissues during embryonic development.Therefore, a thorough understanding of the role, molecular mechanism, and related regulatory genes of cilia in CHD can provide accurate diagnosis and treatment for clinical work to obtain a better prognosis.Here we review the effects of cilia on the positioning of the left-right asymmetry during embryo development and its role in the pathogenesis of CHD.

The curious case of abdominal Dyskinesia: the Philippines’ first reported case

@#This is a case of a 7-year-old Filipino female who presented with undulating movements of the abdomen that occur only while awake, following the initiation of treatment for clinically diagnosed pulmonary tuberculosis. Systemic physical examination was normal. The neurological examination was also unremarkable. The 2-hr video EEG showed no electroencephalographic changes or ictal pattern correlating with the abdominal dyskinesia, highly suggesting a movement disorder. Craniospinal Magnetic Resonance Imaging (MRI) with Gadolinium showed typical results. The patient responded to the trial of carbamazepine after three weeks of treatment with complete resolution of abdominal dyskinesia.

Value of transperineal ultrasound assessment of levator hiatal antero-posterior diameter changes in the prediction of pelvic floor dysfunction / 中国基层医药

Objective:To investigate the value of transperineal ultrasound assessment of levator hiatal antero-posterior (LHap) diameter changes in the diagnosis of pelvic floor dysfunction.Methods:The clinical data of 246 patients with suspected pelvic floor dysfunction who received treatment in Yuyao People's Hospital of Zhejiang Province from October 2020 to June 2021 were retrospectively analyzed. All these patients underwent clinical examination and modified Oxford score (MOS) evaluation. They were divided into observation group (low pelvic floor muscle contractility) and control group (normal pelvic floor muscle contractility) according to MOS. All patients were subjected to ultrasound examination and LHap diameter measurement under three conditions (at rest, pelvic floor muscle contraction, and maximal Valsalva maneuver). The percentage of shortening of LHap diameter (PDC%) and the percentage of elongation of LHap diameter (PIV%) were calculated. The differences of PDC% and PIV% were compared between the observation and control groups. The receiver operating curve was used to evaluate the values of PDC% and PIV% in the diagnosis of pelvic floor dysfunction.Results:Age, body mass index, the proportion of parturient women among included patients, and the proportion of patients who underwent vaginal delivery were significantly higher in the observation group than those in the control group (all P < 0.001). LHap diameters measured when patients were at rest, pelvic floor muscle contraction, and maximal Valsalva maneuver as well as PIV% in the observation group were (45.23 ± 5.74) mm], (37.71 ± 8.44) mm, (51.03 ± 7.41) mm and (11.42 ± 4.79)%, respectively, which were significantly higher than those in the control group [(41.78 ± 4.56) mm, (29.15 ± 4.64) mm, (44.28 ± 4.87) mm, (6.05 ± 2.13)%, t = -4.62, -8.29, -7.26, -9.36, all P < 0.001]. PDC% in the observation group was significantly lower than that in the control group [(17.52 ± 5.58)% vs. (32.19 ± 4.27)%, t = 20.39, P < 0.001]. MOS was positively correlated with PDC% ( r = 0.56, P < 0.001) and it was negatively correlated with PIV% ( r = -0.49, P < 0.001). Taking PDC% < 35.36% as the cut-off value, the area under the receiver operating curve was 0.85, the sensitivity, specificity and accuracy values were 66.40%, 97.38%, and 73.90%, respectively. Taking PIV% > 5.18% as the cut-off value, the area under the curve was 0.70, and the sensitivity, specificity and accuracy values were 71.45%, 57.90% and 68.15%, respectively. When PDC% and PIV% were used together, the area under the curve was 0.73 and the sensitivity, specificity and accuracy values were 84.57%, 55.05% and 77.32%, respectively. Conclusion:Transperineal ultrasound assessment of LHap diameter changes are of certain value in the prediction of pelvic floor dysfunction and can provide objective and quantitative data support for clinicians to diagnose pelvic floor dysfunction. This study is highly innovative and scientific.

Clinical phenotypes of primary ciliary dyskinesia / 中南大学学报(医学版)

Primary ciliary dyskinesia (PCD) is a hereditary disease characterized by airway mucociliary clearance dysfunction. The estimated prevalence of PCD is 1꞉10 000 to 1꞉20 000. The main respiratory manifestations in children are cough, expectoration, chronic rhinitis, sinusitis, and chronic otitis media, while the most common symptoms in adults are chronic sinusitis, bronchiectasis, and infertility. About 50% of patients with certain PCD-related gene variants are combined with situs inversus, and the incidence of congenital heart disease is also high. The pathogenesis behind PCD is that gene variants cause structural or functional disorders of respiratory cilia and motile cilia of other organs, leading to a series of heterogeneous clinical manifestations, which makes it difficult to identify and diagnose PCD. Combining different disease screening tools and understanding the relationship between genotypes and phenotypes may facilitate early diagnosis and treatment for PCD.

Resting-state fMRI study of Parkinson disease patients with peak-dose dyskinesia: an ALFF analysis / 中华行为医学与脑科学杂志

Objective:To observe the characteristics of resting-state brain activity in Parkinson disease (PD) patients with peak-dose dyskinesia, and to explore its pathogenesis.Methods:From March 2017 to November 2019, totally 27 PD patients with peak-dose dyskinesia (dyskinetic group), and 29 PD patients without dyskinesia (non-dyskinetic group) treated in the First Affiliated Hospital of Nanjing Medical University and 27 healthy controls from the community were recruited.Resting-state functional magnetic resonance imaging (rs-fMRI) and clinical scale data were collected.SPSS 26.0 software and REST software were used for data analysis.The whole brain amplitude of low-frequency fluctuation (ALFF) values were compared among the three groups.Correlation analysis was performed between ALFF values of the significant brain regions and the scale scores.Finally, receiver operating characteristic (ROC) curve was used to evaluate the efficacy of ALFF values of significant brain regions in identifying three groups of subjects.Results:The peak-dose dyskinetic group showed decreased ALFF in right inferior frontal gyrus(MNI: x=36, y=21, z=30; x=36, y=18, z=30)and increased ALFF in right supplementary motor area (MNI: x=9, y=0, z=69; x=6, y=-3, z=72)(all P<0.05, Alphasim correction) compared with non-dyskinetic group and healthy controls.ALFF value in right inferior frontal gyrus was negatively correlated with unified dyskinesia rating scale (UDysRS) scores ( r=-0.47, P=0.018). The ALFF value of the right inferior frontal gyrus was more effective in identifying peak-dose dyskinetic patients from non-dyskinetic patients and healthy controls, and the area under the curve of right inferior frontal gyrus were 0.881 and 0.787 (both P<0.01), respectively. Conclusion:Abnormal spontaneous brain activity in right inferior frontal gyrus and right supplementary motor area can be the neurobiological basis of peak-dose dyskinesia in PD patients.The severity of peak-dose dyskinesia is associated with abnormal brain activity of right inferior frontal gyrus.The ALFF value of right inferior frontal gyrus is a potential imaging marker for identifying peak-dose dyskinetic patient.

Effects of Interactive Dynamic Scalp Acupuncture on Motor Function and Gait of Lower Limbs after Stroke: A Multicenter, Randomized, Controlled Clinical Trial / 中国结合医学杂志

OBJECTIVE@#To evaluate the effects of interactive dynamic scalp acupuncture (IDSA), simple combination therapy (SCT), and traditional scalp acupuncture (TSA) on motor function and gait of the lower limbs in post-stroke hemiplegia patients.@*METHODS@#A total of 231 patients with post-stroke hemiplegia was randomly divided into IDSA (78 cases), SCT (78 cases), and TSA (75 cases) groups by a random number table. Scalp acupuncture (SA) and lower-limb robot training (LLRT) were both performed in the IDSA and SCT groups. The patients in the TSA group underwent SA and did not receive LLRT. The treatment was administered once daily and 6 times weekly for 8 continuous weeks, each session lasted for 30 min. The primary outcome measures included Fugl-Meyer assessment of the lower extremity (FMA-LE), berg balance scale (BBS), modified barthel index (MBI), and 6-min walking test (6MWT). The secondary outcome measures included stride frequency (SF), stride length (SL), stride width (SW), affected side foot angle (ASFA), passive range of motion (PROM) of the affected hip (PROM-H), knee (PROM-K) and ankle (PROM-A) joints. The patients were evaluated before treatment, at 1- and 2-month treatment, and 1-, and 2-month follow-up visits, respectively. Adverse events during 2-month treatment were observed.@*RESULTS@#Nineteen patients withdrew from the trial, with 8 in the IDSA and 5 in the SCT groups, 6 in the TSA group. The FMA-LE, BBS, 6MWT and MBI scores in the IDSA group were significantly increased after 8-week treatment and 2 follow-up visits compared with the SCT and TSA groups (P<0.05 or P<0.01). Compared with pre-treatment, the grade distribution of BBS and MBI scores in the 3 groups were significantly improved at 1, 2-month treatment and 2 follow-up visits (P<0.05 or P<0.01). The SF, PROM-H, PROM-K and PROM-A in the IDSA group was significantly increased compared with the SCT and TSA groups after 8-week of treatment (P<0.05 or P<0.01). Compared with the SCT group, ASFA of the IDSA group was significantly reduced after 8-week of treatment (P<0.05). SF, SL, PROM-K and PROM-A were significantly increased at the 2nd follow-up visit whereas the ASFA was significantly reduced in the IDSA group compared with the SCT groups at 1st follow-up visit (P<0.05 or P<0.01). The SF was significantly increased in the SCT group compared with the TSA group after 8-week treatment (P<0.05). Compared with the TSA group, PROM-K, PROM-A were significantly increased at the 2nd follow-up visit (P<0.05).@*CONCLUSIONS@#The effects of IDSA on lower-limb motor function and walking ability of post-stroke patients were superior to SCT and TSA. The SCT was comparable to TSA treatment, and appeared to be superior in improving the motion range of the lower extremities. (Registration No. ChiCTR1900027206).