BACKGROUND Few studies have reported an association between an increased risk of acquiring cancers and survival in patients with 4q deletion syndrome.This study presents a rare association between chromosome 4q abnorm...BACKGROUND Few studies have reported an association between an increased risk of acquiring cancers and survival in patients with 4q deletion syndrome.This study presents a rare association between chromosome 4q abnormalities and fallopian tube highgrade serous carcinoma(HGSC)in a young woman.CASE SUMMARY A 35-year-old woman presented with acute dull abdominal pain and a known chromosomal abnormality involving 4q13.3 duplication and 4q23q24 deletion.Upon arrival at the emergency room,her abdomen appeared ovoid and distended with palpable shifting dullness.Ascites were identified through abdominal ultrasound,and computed tomography revealed an omentum cake and an enlarged bilateral adnexa.Blood tests showed elevated CA-125 levels.Paracentesis was conducted,and immunohistochemistry indicated that the cancer cells favored an ovarian origin,making us suspect ovarian cancer.The patient underwent debulking surgery,which led to a diagnosis of stage IIIC HGSC of the fallopian tube.Subsequently,the patient received adjuvant chemotherapy with carboplatin and paclitaxel,resulting in stable current condition.CONCLUSION This study demonstrates a rare correlation between a chromosome 4q abnormality and HGSC.UBE2D3 may affect crucial cancer-related pathways,including P53,BRCA,cyclin D,and tyrosine kinase receptors,thereby possibly contributing to cancer development.In addition,ADH1 and DDIT4 may be potential influencers of both carcinogenic and therapeutic responses.展开更多
To understand the prevalence and rehabilitation status of autism and mental retardation in China. Methods Screening test and clinical assessment were conducted for the diagnosis of autism and mental retardation. The a...To understand the prevalence and rehabilitation status of autism and mental retardation in China. Methods Screening test and clinical assessment were conducted for the diagnosis of autism and mental retardation. The assessment included investigation of the histories of medical conditions and development of these two disorders, utilization and needs for the rehabilitation service, and related intellectual and behavioral appraisal. Results Among the 7345 children investigated, the prevalence of autism disorder was 1.10 cases per 1000 children aged 2-6 years (95% CI=0.34 to 2.54), and the prevalence of mental retardation was 10.76 cases per 1000 children (95% CI=8.40 to 13.12). All the children suffering from autistic disorder were intellectually disabled, whereas 31.0% of the non-autism mental retardates had other disabilities. The medical conditions prior to birth and perinatal period were important potential factors for autism. Half of the autistic children and 84% of the children with non-autism mental retardation had never received any rehabilitative service. Conclusions The prevalence of autistic disorder in children aged 2-6 years in Tianjin is rather high. It is urgent to improve the status of the autistic and intelligently disabled young children in China. In order to upgrade the level of early diagnostic and improve the intervention to autism and mental retardation, public awareness and training courses should be heightened.展开更多
BACKGROUND The DYNC1H1 gene encodes a part of the dynamic protein,and the protein mutations may further affect the growth and development of neurons,resulting in degeneration of anterior horn cells of the spinal cord,...BACKGROUND The DYNC1H1 gene encodes a part of the dynamic protein,and the protein mutations may further affect the growth and development of neurons,resulting in degeneration of anterior horn cells of the spinal cord,and a variety of clinical phenotypes finally resulting in axonal Charcot-Marie-Tooth disease type 20(CMT20),mental retardation 13(MRD13)and spinal muscular atrophy with lower extremity predominant 1(SMA-LED).The incidence of the disease is low,and it is difficult to diagnose,especially in children.Here,we report a case of DYNC1H1 gene mutation and review the related literature to improve the pediatrician’s understanding of DYNC1H1 gene-related disease to make an early correct diagnosis and provide better services for children.CASE SUMMARY A 4-mo-old Chinese female child with adducted thumbs,high arch feet,and epileptic seizure presented slow response,delayed development,and low limb muscle strength.Electroencephalogram showed abnormal waves,a large number of multifocal sharp waves,sharp slow waves,and multiple spasms with a series of attacks.High-throughput sequencing and Sanger sequencing identified a heterozygous mutation,c.5885 G>A(p.R1962H),in the DYNC1H1 gene(NM 001376)of the proband,which was not identified in her parents.Combined with the clinical manifestations and pedigree of this family,this mutation is likely pathogenic based on the American Academy of Medical Genetics and Genomics guidelines.The child was followed when she was 1 year and 2 mo old.The magnetic resonance imaging result was consistent with the findings of white matter myelinated dysplasia and congenital giant gyrus.The extensive neurogenic damage to the extremities was considered,as the results of electromyography showed that the motor conduction velocity and sensory conduction of the nerves of the extremities were not abnormal,and the degree of fit of the children with severe contraction was poor.At present,the child is 80 cm in length and 9 kg in weight,with slender limbs and low muscle strength,and still does not raise her head.She cannot sit or speak.Speech,motor,and mental development was significantly delayed.There is still no effective treatment for this disease.CONCLUSION We herein report a de novo variant of DYNC1H1 gene,c.5885 G>A(p.R1962H),leading to overlapping phenotypes(seizure,general growth retardation,and muscle weakness)of CMT20,MRD13,and SMA-LED,but there is no effective treatment for such condition.Our case enriches the DYNC1H1 gene mutation spectrum and provides an important basis for clinical diagnosis and treatment and genetic counseling.展开更多
BACKGROUND Forkhead box protein 1(FOXP1)(OMIM:605515)at chromosomal region 3p14.1 plays an important regulatory role in cell development and functions by regulating genetic expression.Earlier studies have suggested th...BACKGROUND Forkhead box protein 1(FOXP1)(OMIM:605515)at chromosomal region 3p14.1 plays an important regulatory role in cell development and functions by regulating genetic expression.Earlier studies have suggested that FOXP1,an oncogene,is capable of initiating tumorigenicity depending on the cell type.FOXP1 also plays an important role in regulating the cell development and functions of the immune system,e.g.,regulating B-cell maturation and mononuclear phagocyte differentiation,and in the occurrence and development of various immune diseases.The mRNA of this gene is widely expressed in humans,and its differential expression is related to numerous diseases.CASE SUMMARY A 5-year-old boy mainly presented with attention deficit and hyperactivity disorder and developmental retardation accompanied by gait instability and abnormal facial features(low-set ears).DNA samples were extracted from the child’s and his parents’peripheral blood to detect whole-exome sequences and whole-genome copy number variations.Results revealed heterozygous deletions of exon 6-21 of FOXP1 gene in the child.Physical examination upon admission showed that the child was generally in good condition,had a moderate nutritional status,a slightly slow response to external stimuli,equally large and equally round bilateral pupils,was sensitive to light reflection,and had poor eye contact and joint attention.He had no meaningful utterance and could not pronounce words properly.He was able to use gestures to simply express his thoughts,to perform simple actions,and to listen to instructions.He had no rash,cafe-au-lait macules,or depigmentation spots.He had thick black hair and low-set ears.He had highly sensitive skin,especially on his face and palms.He had no abnormal palm fingerprint.Cardiopulmonary and abdominal examinations revealed no abnormalities.He had normal limb muscle strength and tension.He showed normal tendon reflexes of both knees.His bilateral Babinski and meningeal irritation signs were negative.He had a normal male vulva.CONCLUSION We report the characteristic features of autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion.This study provides a molecular basis for etiological diagnosis and treatment of the child,as well as for genetic counseling for the pedigree.展开更多
BACKGROUND: In clinical practice, the degree of cognitive competence damage correlates to fine motor function deficits in children with psychomotor development retardation. Clear correlations between the two can help...BACKGROUND: In clinical practice, the degree of cognitive competence damage correlates to fine motor function deficits in children with psychomotor development retardation. Clear correlations between the two can help to develop and perform corresponding functional training for children with mental retardation (MR). OBJECTIVE: This study was designed to evaluate and analyze the correlation of fine motor function to cognitive competence in MR children using the Peabody Developmental Motor Scale-Fine Motor (PDMS-FM) and Symbolic Play Test. DESIGN: Scale evaluation and correlation analysis. SETTING: Children's Rehabilitation Center & Huajing District Hospital, Children's Hospital Affiliated to Fudan University. PARTICIPANTS: A total of 42 MR children, 28 males and 14 females, aged 14-69 months, were admitted to the Rehabilitation Center, Children's Hospital, Fudan University between June 2003 and April 2006, and were recruited for this study. All children corresponded to MR diagnosis criteria determined by Chinese Neurology and Psychiatry Society in 1989. Written informed consent for participating in the evaluation and for evaluated content was obtained from each child's guardian. METHODS: Subsequent to admission and prior to treatment, fine motor function of each MR child was evaluated using PDMS-FM (Chinese version). The scale captured 98 items that formed the grasping (Gr) and visual-motor integration (Vi) subtests. Cognitive competence was evaluated using the Symbolic Play Test (Chinese version), which captured four 6-item specific contents. The original score of each subtest was used to evaluate results for statistical analysis. Higher scores from the two evaluations indicated stronger abilities. Pearson correlation analysis was applied for analyzing data correlation. MAIN OUTCOME MEASURES: Fine motor function was evaluated using PDMS-FM. Cognitive competence was measured using the Symbolic Play Test. Correlations between results from the two evaluations were analyzed. RESULTS: All 42 MR children were included in the final analysis. Correlation analysis results demonstrated significant positive correlations of original scores existed between Gr and Vi subtests in the PDMS-FM (r = 0.761, P 〈 0.01), and between Vi and Gr subtests in PDMS-FM and Symbolic Play Test (r = 0.663, 0.450, P 〈 0.01). CONCLUSION: Fine motor function closely correlates to cognitive competence in MR children. This indicates fine motor function training should be developed in combination with cognitive competence training.展开更多
Mental retardation is defined by significant limitations in intellectual function and adaptive behavior that occur before 18 years of age.Many chromosomal diseases come with mental retardation.We reported two Chinese ...Mental retardation is defined by significant limitations in intellectual function and adaptive behavior that occur before 18 years of age.Many chromosomal diseases come with mental retardation.We reported two Chinese families with partial trisomy 9p and other chromosome partial monosomy,clinical features of mental retardation and mild facial and pinkie anomalies.In the family 1,we showed that the proband carried a trisomy 9p21.3→pter and monosomy 21q22.3→qter by using fluorescence in situ hybridization analysis.Molecular genetic analysis defined the precise breakpoint on chromosome 9p between markers D9S1846 and D9S171,an interval of about 2.9 Mb on 9p21.3,and the breakpoint on chromosome 21q between markers D21S1897 and D21S1446,a region of about 1.5 Mb on 21q22.3.In the family 2,a patient with trisomy 9p21.3→pter and monosomy 5p15.33→pter,and a de novo maternal balanced translocation between chromosomes 5 and 9 was identified in his mother.Cytogenetic and molecular genetic analysis defined the precise breakpoints on chromosome 9p21.3 and chromosome 5p15.33.Further clinical investigation found that any individual had no refractoriness eczema disease except the proband in this family.These results further implicate that trisomy 9p is associated with mental retardation,and that there may be key gene duplication on chromosome 9p21.3→9pter responsible for mental retardation and mild facial anomaly.This result has been applied successfully in prenatal diagnosis of the second family.展开更多
Subtelomeric rearrangements contribute to idiopathic mental retardation (MR), but most children with idiopathic MR do not show any chromosome abnormalities with standard cytogenetic analysis. The primed in situ labe...Subtelomeric rearrangements contribute to idiopathic mental retardation (MR), but most children with idiopathic MR do not show any chromosome abnormalities with standard cytogenetic analysis. The primed in situ labeling (PRINS) technique, using an oligonucleotide primer complementary to the telemetric repeat sequences (TTAGGG), can identify chromosome telomeric abnormality (deletion) in idiopathic MR children. In this study, seventy children with idiopathic MR were enrolled and subjected to PR1NS. The results showed normal karyotype in all the children, subtelomeric rearrangements (lq del and 4q del) in 2 cases, which was confirmed by fluorescence in situ hybridization (FISH). It was concluded that PRINS is effective for the detection of subtelomeric rearrangements and may become a routine technique for cytogenetical abnormality screening.展开更多
Objective: To investigate the effect of acupuncture ("JIN’s San Zhen") on infantile mental retardation (MR). Methods: 44 cases of MR children were attributed to treatment group and 39 normal children to con...Objective: To investigate the effect of acupuncture ("JIN’s San Zhen") on infantile mental retardation (MR). Methods: 44 cases of MR children were attributed to treatment group and 39 normal children to control group. P 3 (event related potential) and brainstem evoked potentials were used as the indexes. Acupoints "Si shen Zhen", "Head Zhi San Zhen", "Hand Zhi San Zhen", "Foot Zhi San Zhen" were punctured with filiform needles, and stimulated by manipulating the needle once every 5 minutes with uniform reinforcing reducing method. The treatment was conducted once daily, 6 times every week, with 4 months being a therapeutic course. Results: In comparison with normal children, the latency of P 3 was longer and its amplitude lower in MR children. After 4 months’ acupuncture treatment, the latency was shortened and the amplitude increased significantly in comparison with pre treatment (P<0.01, 0.05). Results of the total intelligence quotient (TIQ) evaluation showed a 70.3% coincidence rate compared with improvement of P 3. Conclusion: Changes of P 3 and BAEP(brain auditory evoked potential) after acupuncture treatment may be related to the effect of "JIN’s San Zhen" in bettering clinical symptoms and signs of MR infantile patients.展开更多
Mentally retarded children are the most disadvan- taged among disabled children. Since the reform and opening up, with sup- port from the Communist Party of China, the government and the public, the legitimate rights ...Mentally retarded children are the most disadvan- taged among disabled children. Since the reform and opening up, with sup- port from the Communist Party of China, the government and the public, the legitimate rights and interests of mentally retarded children have greatly improved. But problems in this respect remain serious, and vari- ous levels of government, relevant departments and the public should attach much importance to these problems. This paper, taking a reha- bilitation center in Liaoning Province for mentally retarded children as a single case, studies the protection of these children's lawful rights and in- terests in a systematic manner.展开更多
Objective To explore the regulatory effect of fragile X mental retardation protein (FMRP) on the translation of microtubule associated protein 1B (MAP1B). Methods The expressions of MAP1B protein and MAP1B mRNA in...Objective To explore the regulatory effect of fragile X mental retardation protein (FMRP) on the translation of microtubule associated protein 1B (MAP1B). Methods The expressions of MAP1B protein and MAP1B mRNA in the brains of 1-week and 6-week old fragile X mental retardation-1 (FmrI) knockout (KO) mice were investigated by immunohistochemistry, Western blot, and in situ hybridization, with the age-matched wild type mice (WT) as controls. Results The mean optical density (MOD) of MAP1B was significantly decreased in each brain region in KO6W compared with WT6W, whereas in KO1W, this decrease was only found in the hippocampus and cerebellum. MAP1B in 6-week mice was much less than that in 1-week mice of the same genotype. The results of Western blot and in situ hybridization showed that MAP1B protein and MAP1B mRNA were significantly decreased in the hippocampus of both KO1W and KO6W. Conclusion The decreased MAP1B protein and MAP1B mRNA in the Fmrl knockout mice indicate that FMRP may positively regulate the expression of MAP1B.展开更多
Fragile X syndrome (FXS) is one of the most prevalent mental retardations. It is mainly caused by the loss of fragile X mental retardation protein (FMRP). FMRP is an RNA binding protein and can regulate the transl...Fragile X syndrome (FXS) is one of the most prevalent mental retardations. It is mainly caused by the loss of fragile X mental retardation protein (FMRP). FMRP is an RNA binding protein and can regulate the translation of its binding RNA, thus regulate several signaling pathways. Many FXS patients show high susceptibility to epilepsy. Epilepsy is a chronic neurological disorder which is characterized by the recurrent appearance of spontaneous seizures due to neuronal hyperactivity in the brain. Both the abnormal activation of several signaling pathway and morphological abnormality that are caused by the loss of FMRP can lead to a high susceptibility to epilepsy. Combining with the research progresses on both FXS and epilepsy, we outlined the possible mechanisms of high susceptibility to epilepsy in FXS and tried to give a prospect on the future research on the mechanism of epilepsy that happened in other mental retardations.展开更多
Dynamic regulation of histone methylation/demethylation plays an important role during development. Mutations and truncations in human plant homeodomain (PHD) finger protein 8 (PHF8) are associated with X-linked m...Dynamic regulation of histone methylation/demethylation plays an important role during development. Mutations and truncations in human plant homeodomain (PHD) finger protein 8 (PHF8) are associated with X-linked mental retardation and facial anomalies, such as a long face, broad nasal tip, cleft lip/cleft palate and large hands, yet its molecular function and structural basis remain unclear. Here, we report the crystal structures of the catalytic core of PHF8 with or without α-ketoglutarate (α-KG) at high resolution. Biochemical and structural studies reveal that PHF8 is a novel histone demethylase specific for di- and mono-methylated histone H3 lysine 9 (H3K9me2/1), but not for H3K9me3. Our analyses also reveal how human PHF8 discriminates between methylation states and achieves sequence specificity for methylated H3K9. The in vitro demethylation assay also showed that the F279S mutant observed in clinical patients possesses no demethylation activity, suggesting that loss of enzymatic activity is crucial for pathogenesis of PHF8 patients. Taken together, these results will shed light on the molecular mechanism underlying PHF8-associated developmental and neurological diseases.展开更多
BACKGROUND Isovaleric acidemia(IVA)is a rare autosomal recessive inherited organic acidemia caused by a genetic deficiency of isovaleryl-CoA dehydrogenase(IVD).Its morbidity is low,but mortality is high.There is no ef...BACKGROUND Isovaleric acidemia(IVA)is a rare autosomal recessive inherited organic acidemia caused by a genetic deficiency of isovaleryl-CoA dehydrogenase(IVD).Its morbidity is low,but mortality is high.There is no effective cure for this disease.Early identification of IVA using clinical features can significantly slow disease progression and reduce mortality.Here we report a Chinese neonate with two mutations of IVD and share valuable information on this disease.CASE SUMMARY A 12-day-old male neonate with“poor response for 1 d and repeated convulsions accompanied by high muscle tension for 6 h”was hospitalized.The patient was the first child of nonconsanguineous ethnic Chinese parents.He was delivered by cesarean section due to breech position at 39+1 wk of gestation with a birth weight of 3.27 kg.Initially,he suffered from dyspnea and rhinobyon,and at 10 d after birth the patient suddenly developed poor feeding,low response,lethargy and seizures.Organic acid analysis of blood and urine by tandem mass spectrometry and gas chromatography mass spectrometry showed extremely high concentrations of isovaleryl glycine.The patient had an acute episode of IVA causing severe metabolic stress and eventually died.CONCLUSION A new case of an IVA patient carrying c.1193G>A(p.Arg398Gln)and c.1208A>G(p.Try403Cys)mutations is reported in China.展开更多
Objective: To explore the possible mechanisms of "JIN San Zhen" (JIN’s 3 acupoints groups) in treatment of mental retardation. Methods: A total of 38 female mice were randomly divided into normal control (n...Objective: To explore the possible mechanisms of "JIN San Zhen" (JIN’s 3 acupoints groups) in treatment of mental retardation. Methods: A total of 38 female mice were randomly divided into normal control (n=10), sham operation (n=10), model (n=8) and acupuncture (n=10) groups. "Si Shen Zhen" [4 points around "Baihui" (GV 20): 0.3 cm anterior, posterior, left and right to GV 20 respectively], and "Zhi San Zhen" ["Shenting" (GV 24) and bilateral "Benshen" (GB 13)] of "JIN San Zhen" series are used. The memory ability, AChE positive fiber density and mono amines transmitters of the brain are used as the indexes. Results: After 8 days’ treatment, cerebral ischemia induced mental retardation (decline of learning memory ability) was improved significantly shown by Y maze test (P<0.05-0.01), simultaneously, AChE positive fiber density of the frontal cerebral cortex and hippocampus, serotonie (5 HT), noradrenaline (NA) and dopamine (DA) contents of the brain increased significantly (P<0.05). Conclusion: Acupuncture induced increase of AChE, 5 HT, NA and DA in the brain may contribute to the effect of acupuncture in improving the memory capability of the RD mice.展开更多
Although particular chromosomal syndromes are phenotypicaUy and clinically distinct, the majority of individuals with autosomal imbalance, such as aneuploidy, manifest mental retardation. A common abnormal phenotype o...Although particular chromosomal syndromes are phenotypicaUy and clinically distinct, the majority of individuals with autosomal imbalance, such as aneuploidy, manifest mental retardation. A common abnormal phenotype of Down syndrome (DS), the most prevalent autosomal aneuploidy, shows a reduction in both the number and the density of neurons in the brain. As a DS model, we have recently created chimeric mice from ES cells containing a single human chromosome 21. The mice mimicked the characteristic phenotypic features of DS, and ES cells showed a higher incidence of apoptosis during early neuronal differentiation in vitro. In this study, we examined the induction of anomalous early neural development by aneuploidy in mouse ES cells by transferring various human chromosomes or additional mouse chromosomes. Results showed an elevated incidence of apoptosis in all autosome-aneuploid clones examined during early neuronal differentiation in vitro. Further, cDNA microarray analysis revealed a common cluster of down-regulated genes, of which eight known genes are related to cell proliferation, neurite outgrowth and differentiation. Importantly, targeting of these genes by siRNA knockdown in normal mouse ES cells led to enhanced apoptosis during early neuronal differentiation. These findings strongly suggest that autosomal imbalance is associated with general neuronal loss through a common molecular mechanism for apoptosis.展开更多
Intelligence-benefiting acupuncturerefers to the acupuncture-moxibustiontreatment of intellectual disturbances byremoving obstructions in channels andcollaterals,regulating yin and yang,andeliminating pathogenic facto...Intelligence-benefiting acupuncturerefers to the acupuncture-moxibustiontreatment of intellectual disturbances byremoving obstructions in channels andcollaterals,regulating yin and yang,andeliminating pathogenic factors to strengthenthe body resistance,with the effects ofstrengthening the brain,benefiting intelligence,展开更多
Congenital hepatic fibrosis is part of many different malformation syndromes, of which oculo-encephalohepato-renal syndrome is the most common. These syndromes largely overlap, and so accurate classification of indivi...Congenital hepatic fibrosis is part of many different malformation syndromes, of which oculo-encephalohepato-renal syndrome is the most common. These syndromes largely overlap, and so accurate classification of individual patients may be difficult. We present herein three syndromic siblings who were products of a consanguineous marriage. We investigated in detail at least six organ systems in these patients, namely the liver, brain, eye, kidneys, skeleton, and gonads. The common features observed in these three cases were congenital hepatic fibrosis, retinitis pigmentosa, truncal obesity, rotatory nystagmus, mental retardation, advanced myopia, and high-arched palate. The clinical dysmorphology in these patients was distinct and lacked the major features of the known syndromes associated with congenital hepatic fibrosis. Although some features of these presented cases are similar to those found in Bardet-Biedl syndrome(BBS), the absence of some major criteria of BBS(polydactyly, renal abnormality, and hypogonadism) suggests that this may be a new syndrome. All three patients remain under follow-up in the departments of Gastroenterology, Ophthalmology, and Neurology at Hacettepe University.展开更多
Background: Congenital hypothyroidism is the result of a reduction in thyroid hormone production or a decrease in the activity of thyroid hormone receptors and is one of the most preventable causes of mental retardati...Background: Congenital hypothyroidism is the result of a reduction in thyroid hormone production or a decrease in the activity of thyroid hormone receptors and is one of the most preventable causes of mental retardation, deafness, and heart problems in the world. This study aimed to compare the prevalence of congenital hypothyroidism between Nahavand in the west of Iran and Kashmar in the east of Iran during the years 2016 2017. Methods: This is a cross-sectional descriptive study on neonates born in April 2016 to March 2018 in two cities of Nahavand and Kashmar. A few drops of blood from a baby's heel in 3 5 birthdays on a special filter paper (S & S903) became blood samples from the pelvic floor were filtered and dried. The valuation of the samples was performed by the enzyme linked immunosorbent assay method by evaluating the thyroid stimulating hormone. Premature infants, underweight (less than 2,500 grams), a weight of over 4 kg, multiple births, or newborns requiring blood transfusions or any newborn needed to be retaken to the test after two weeks. Results: In the city of Nahavand, the incidence of neonatal hypothyroidism in the years 2016 and 2017 were 6.7 and 9.09 per 1,000 live births. And for the city of Kashmar, this number increased to 5.6 and 4.3 per 1,000 births in 2016 and 2017, respectively. The mean rate of participation in the screening program in the first 3 5 days of birth in Nahavand during two years was 2016 and 2017 to 78.7% and in Kashmar about 94%, which indicates the higher participation of Kashmar. In the city of Nahavand, 64.6% of cases of hypothyroidism reported in boys' neonates and 51.5% of male children in the Kashmar city. Conclusion: The results of our survey indicates that the prevalence of hypothyroidism is high in both Kashmar in eastern Iran and Nahavand in western Iran. Especially in Nahavand city of western Iran, where the prevalence of hypothyroidism is higher than global and internal statistics. Further surveys are required to elucidate the role of iodine deficiency and family marriage in the hereafter.展开更多
Objective To observe clinical efficacy of acupuncture at ]ing-well point combined with educational training for the treatment of children with severe mental retardation. Methods Sixty children with severe mental retar...Objective To observe clinical efficacy of acupuncture at ]ing-well point combined with educational training for the treatment of children with severe mental retardation. Methods Sixty children with severe mental retardation were randomly divided into ]ing-well point acupuncture plus simple special education and language training group (group A) and simple special education and language training group (group B) with 30 child patients in each group according to registration order. All the patients were treated once every other day, 10 times as a course of treatment. There were 20 days of interval between each course of treatment. Curative effect was analyzed after 3 courses of treatment. Gesell Developmental Scale test was conducted for all children before and after treatment. Development quotient at the functional area of social adaptability, large motor, fine motor, language skill and social behavior of individuals was recorded and compared between groups and before and after treatment to evaluate the curative effect. Results Social adaptability and fine motor of children were improved in the group B after treatment. And in the group A, social adaptability, fine motor, language skill and social behavior of individuals were improved after treatment. Meanwhile, the group A was superior to the group B in curative effect of overall social adaptability and language skill (both P〈0.05). The overall response rate in group B was 23.3% (7/30) and in group A was 46.6% (14/30, P〈0.05). Conclusion Acupuncture at jing-well point combined with educational training can effectively improve the intelligence level of children with severe mental retardation and its curative effect is better than that of simply education and training.展开更多
Objective To observe the therapeutic effect of acupuncture combined with ear point taping and pressing on sleep disturbance of the children with mental retardation. Method Thirty children of mental retardation with sl...Objective To observe the therapeutic effect of acupuncture combined with ear point taping and pressing on sleep disturbance of the children with mental retardation. Method Thirty children of mental retardation with sleep disturbance were treated with acupuncture combined with ear point taping and pressing therapy, Sìshénzhēn (四神针), Nǎosānzhēn (脑三针), Zhìsānzhēn (智三针), Nièsānzhēn (颞三针), Shǒuzhìzhēn (手智针) were selected as main acupoints, and adjunct points were used according to symptoms and syndrome differentiation. For ear point taping and pressing, ěrshénmén (耳神门 MA-TF1), Pízhìxià (皮质下 MA–AT1), Jiāogǎn (交感 MA-AH7), Xīn (心, heart), Shèn (肾 kidney), Pí (脾 spleen) were selected. The treatment was given two therapeutic courses, thrice each week, 36 sessions constituted one course. Child Sleep Habit Questionnaire (CSHQ) scale was used for assessment of sleep state before and after the treatment. Results After the treatment, among the 30 cases, 11 cases were markedly effective, 16 cases were effective and 3 cases were failed, the total effective rate was 90.0%; after the treatment, the children had significant improvement in the total time of sleep, the time of going to bed for sleep, sleep habit, sleep behavior, awaking state at night, getting-up state in the morning, sleep state in the daytime and the total score (P0.01, P0.001). Conclusion Acupuncture combined with ear point taping and pressing therapy has a positive therapeutic effect on sleep disturbance and increases sleep quality in varying degrees in children with mental retardation.展开更多
文摘BACKGROUND Few studies have reported an association between an increased risk of acquiring cancers and survival in patients with 4q deletion syndrome.This study presents a rare association between chromosome 4q abnormalities and fallopian tube highgrade serous carcinoma(HGSC)in a young woman.CASE SUMMARY A 35-year-old woman presented with acute dull abdominal pain and a known chromosomal abnormality involving 4q13.3 duplication and 4q23q24 deletion.Upon arrival at the emergency room,her abdomen appeared ovoid and distended with palpable shifting dullness.Ascites were identified through abdominal ultrasound,and computed tomography revealed an omentum cake and an enlarged bilateral adnexa.Blood tests showed elevated CA-125 levels.Paracentesis was conducted,and immunohistochemistry indicated that the cancer cells favored an ovarian origin,making us suspect ovarian cancer.The patient underwent debulking surgery,which led to a diagnosis of stage IIIC HGSC of the fallopian tube.Subsequently,the patient received adjuvant chemotherapy with carboplatin and paclitaxel,resulting in stable current condition.CONCLUSION This study demonstrates a rare correlation between a chromosome 4q abnormality and HGSC.UBE2D3 may affect crucial cancer-related pathways,including P53,BRCA,cyclin D,and tyrosine kinase receptors,thereby possibly contributing to cancer development.In addition,ADH1 and DDIT4 may be potential influencers of both carcinogenic and therapeutic responses.
基金This study was supported by the "973" Program of the Ministry of Science and Technology, China (2001CB510310).
文摘To understand the prevalence and rehabilitation status of autism and mental retardation in China. Methods Screening test and clinical assessment were conducted for the diagnosis of autism and mental retardation. The assessment included investigation of the histories of medical conditions and development of these two disorders, utilization and needs for the rehabilitation service, and related intellectual and behavioral appraisal. Results Among the 7345 children investigated, the prevalence of autism disorder was 1.10 cases per 1000 children aged 2-6 years (95% CI=0.34 to 2.54), and the prevalence of mental retardation was 10.76 cases per 1000 children (95% CI=8.40 to 13.12). All the children suffering from autistic disorder were intellectually disabled, whereas 31.0% of the non-autism mental retardates had other disabilities. The medical conditions prior to birth and perinatal period were important potential factors for autism. Half of the autistic children and 84% of the children with non-autism mental retardation had never received any rehabilitative service. Conclusions The prevalence of autistic disorder in children aged 2-6 years in Tianjin is rather high. It is urgent to improve the status of the autistic and intelligently disabled young children in China. In order to upgrade the level of early diagnostic and improve the intervention to autism and mental retardation, public awareness and training courses should be heightened.
基金Supported by Jinan Science and Technology Project,No.201805014。
文摘BACKGROUND The DYNC1H1 gene encodes a part of the dynamic protein,and the protein mutations may further affect the growth and development of neurons,resulting in degeneration of anterior horn cells of the spinal cord,and a variety of clinical phenotypes finally resulting in axonal Charcot-Marie-Tooth disease type 20(CMT20),mental retardation 13(MRD13)and spinal muscular atrophy with lower extremity predominant 1(SMA-LED).The incidence of the disease is low,and it is difficult to diagnose,especially in children.Here,we report a case of DYNC1H1 gene mutation and review the related literature to improve the pediatrician’s understanding of DYNC1H1 gene-related disease to make an early correct diagnosis and provide better services for children.CASE SUMMARY A 4-mo-old Chinese female child with adducted thumbs,high arch feet,and epileptic seizure presented slow response,delayed development,and low limb muscle strength.Electroencephalogram showed abnormal waves,a large number of multifocal sharp waves,sharp slow waves,and multiple spasms with a series of attacks.High-throughput sequencing and Sanger sequencing identified a heterozygous mutation,c.5885 G>A(p.R1962H),in the DYNC1H1 gene(NM 001376)of the proband,which was not identified in her parents.Combined with the clinical manifestations and pedigree of this family,this mutation is likely pathogenic based on the American Academy of Medical Genetics and Genomics guidelines.The child was followed when she was 1 year and 2 mo old.The magnetic resonance imaging result was consistent with the findings of white matter myelinated dysplasia and congenital giant gyrus.The extensive neurogenic damage to the extremities was considered,as the results of electromyography showed that the motor conduction velocity and sensory conduction of the nerves of the extremities were not abnormal,and the degree of fit of the children with severe contraction was poor.At present,the child is 80 cm in length and 9 kg in weight,with slender limbs and low muscle strength,and still does not raise her head.She cannot sit or speak.Speech,motor,and mental development was significantly delayed.There is still no effective treatment for this disease.CONCLUSION We herein report a de novo variant of DYNC1H1 gene,c.5885 G>A(p.R1962H),leading to overlapping phenotypes(seizure,general growth retardation,and muscle weakness)of CMT20,MRD13,and SMA-LED,but there is no effective treatment for such condition.Our case enriches the DYNC1H1 gene mutation spectrum and provides an important basis for clinical diagnosis and treatment and genetic counseling.
基金Supported by Natural Science Foundation of Jilin Province,No.20200201486JC.
文摘BACKGROUND Forkhead box protein 1(FOXP1)(OMIM:605515)at chromosomal region 3p14.1 plays an important regulatory role in cell development and functions by regulating genetic expression.Earlier studies have suggested that FOXP1,an oncogene,is capable of initiating tumorigenicity depending on the cell type.FOXP1 also plays an important role in regulating the cell development and functions of the immune system,e.g.,regulating B-cell maturation and mononuclear phagocyte differentiation,and in the occurrence and development of various immune diseases.The mRNA of this gene is widely expressed in humans,and its differential expression is related to numerous diseases.CASE SUMMARY A 5-year-old boy mainly presented with attention deficit and hyperactivity disorder and developmental retardation accompanied by gait instability and abnormal facial features(low-set ears).DNA samples were extracted from the child’s and his parents’peripheral blood to detect whole-exome sequences and whole-genome copy number variations.Results revealed heterozygous deletions of exon 6-21 of FOXP1 gene in the child.Physical examination upon admission showed that the child was generally in good condition,had a moderate nutritional status,a slightly slow response to external stimuli,equally large and equally round bilateral pupils,was sensitive to light reflection,and had poor eye contact and joint attention.He had no meaningful utterance and could not pronounce words properly.He was able to use gestures to simply express his thoughts,to perform simple actions,and to listen to instructions.He had no rash,cafe-au-lait macules,or depigmentation spots.He had thick black hair and low-set ears.He had highly sensitive skin,especially on his face and palms.He had no abnormal palm fingerprint.Cardiopulmonary and abdominal examinations revealed no abnormalities.He had normal limb muscle strength and tension.He showed normal tendon reflexes of both knees.His bilateral Babinski and meningeal irritation signs were negative.He had a normal male vulva.CONCLUSION We report the characteristic features of autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion.This study provides a molecular basis for etiological diagnosis and treatment of the child,as well as for genetic counseling for the pedigree.
文摘BACKGROUND: In clinical practice, the degree of cognitive competence damage correlates to fine motor function deficits in children with psychomotor development retardation. Clear correlations between the two can help to develop and perform corresponding functional training for children with mental retardation (MR). OBJECTIVE: This study was designed to evaluate and analyze the correlation of fine motor function to cognitive competence in MR children using the Peabody Developmental Motor Scale-Fine Motor (PDMS-FM) and Symbolic Play Test. DESIGN: Scale evaluation and correlation analysis. SETTING: Children's Rehabilitation Center & Huajing District Hospital, Children's Hospital Affiliated to Fudan University. PARTICIPANTS: A total of 42 MR children, 28 males and 14 females, aged 14-69 months, were admitted to the Rehabilitation Center, Children's Hospital, Fudan University between June 2003 and April 2006, and were recruited for this study. All children corresponded to MR diagnosis criteria determined by Chinese Neurology and Psychiatry Society in 1989. Written informed consent for participating in the evaluation and for evaluated content was obtained from each child's guardian. METHODS: Subsequent to admission and prior to treatment, fine motor function of each MR child was evaluated using PDMS-FM (Chinese version). The scale captured 98 items that formed the grasping (Gr) and visual-motor integration (Vi) subtests. Cognitive competence was evaluated using the Symbolic Play Test (Chinese version), which captured four 6-item specific contents. The original score of each subtest was used to evaluate results for statistical analysis. Higher scores from the two evaluations indicated stronger abilities. Pearson correlation analysis was applied for analyzing data correlation. MAIN OUTCOME MEASURES: Fine motor function was evaluated using PDMS-FM. Cognitive competence was measured using the Symbolic Play Test. Correlations between results from the two evaluations were analyzed. RESULTS: All 42 MR children were included in the final analysis. Correlation analysis results demonstrated significant positive correlations of original scores existed between Gr and Vi subtests in the PDMS-FM (r = 0.761, P 〈 0.01), and between Vi and Gr subtests in PDMS-FM and Symbolic Play Test (r = 0.663, 0.450, P 〈 0.01). CONCLUSION: Fine motor function closely correlates to cognitive competence in MR children. This indicates fine motor function training should be developed in combination with cognitive competence training.
基金supported by grants from National Natural Sciences Foundation of China [No. 30670736 and No.30972655 (J.Y.L.)]
文摘Mental retardation is defined by significant limitations in intellectual function and adaptive behavior that occur before 18 years of age.Many chromosomal diseases come with mental retardation.We reported two Chinese families with partial trisomy 9p and other chromosome partial monosomy,clinical features of mental retardation and mild facial and pinkie anomalies.In the family 1,we showed that the proband carried a trisomy 9p21.3→pter and monosomy 21q22.3→qter by using fluorescence in situ hybridization analysis.Molecular genetic analysis defined the precise breakpoint on chromosome 9p between markers D9S1846 and D9S171,an interval of about 2.9 Mb on 9p21.3,and the breakpoint on chromosome 21q between markers D21S1897 and D21S1446,a region of about 1.5 Mb on 21q22.3.In the family 2,a patient with trisomy 9p21.3→pter and monosomy 5p15.33→pter,and a de novo maternal balanced translocation between chromosomes 5 and 9 was identified in his mother.Cytogenetic and molecular genetic analysis defined the precise breakpoints on chromosome 9p21.3 and chromosome 5p15.33.Further clinical investigation found that any individual had no refractoriness eczema disease except the proband in this family.These results further implicate that trisomy 9p is associated with mental retardation,and that there may be key gene duplication on chromosome 9p21.3→9pter responsible for mental retardation and mild facial anomaly.This result has been applied successfully in prenatal diagnosis of the second family.
文摘Subtelomeric rearrangements contribute to idiopathic mental retardation (MR), but most children with idiopathic MR do not show any chromosome abnormalities with standard cytogenetic analysis. The primed in situ labeling (PRINS) technique, using an oligonucleotide primer complementary to the telemetric repeat sequences (TTAGGG), can identify chromosome telomeric abnormality (deletion) in idiopathic MR children. In this study, seventy children with idiopathic MR were enrolled and subjected to PR1NS. The results showed normal karyotype in all the children, subtelomeric rearrangements (lq del and 4q del) in 2 cases, which was confirmed by fluorescence in situ hybridization (FISH). It was concluded that PRINS is effective for the detection of subtelomeric rearrangements and may become a routine technique for cytogenetical abnormality screening.
文摘Objective: To investigate the effect of acupuncture ("JIN’s San Zhen") on infantile mental retardation (MR). Methods: 44 cases of MR children were attributed to treatment group and 39 normal children to control group. P 3 (event related potential) and brainstem evoked potentials were used as the indexes. Acupoints "Si shen Zhen", "Head Zhi San Zhen", "Hand Zhi San Zhen", "Foot Zhi San Zhen" were punctured with filiform needles, and stimulated by manipulating the needle once every 5 minutes with uniform reinforcing reducing method. The treatment was conducted once daily, 6 times every week, with 4 months being a therapeutic course. Results: In comparison with normal children, the latency of P 3 was longer and its amplitude lower in MR children. After 4 months’ acupuncture treatment, the latency was shortened and the amplitude increased significantly in comparison with pre treatment (P<0.01, 0.05). Results of the total intelligence quotient (TIQ) evaluation showed a 70.3% coincidence rate compared with improvement of P 3. Conclusion: Changes of P 3 and BAEP(brain auditory evoked potential) after acupuncture treatment may be related to the effect of "JIN’s San Zhen" in bettering clinical symptoms and signs of MR infantile patients.
文摘Mentally retarded children are the most disadvan- taged among disabled children. Since the reform and opening up, with sup- port from the Communist Party of China, the government and the public, the legitimate rights and interests of mentally retarded children have greatly improved. But problems in this respect remain serious, and vari- ous levels of government, relevant departments and the public should attach much importance to these problems. This paper, taking a reha- bilitation center in Liaoning Province for mentally retarded children as a single case, studies the protection of these children's lawful rights and in- terests in a systematic manner.
文摘Objective To explore the regulatory effect of fragile X mental retardation protein (FMRP) on the translation of microtubule associated protein 1B (MAP1B). Methods The expressions of MAP1B protein and MAP1B mRNA in the brains of 1-week and 6-week old fragile X mental retardation-1 (FmrI) knockout (KO) mice were investigated by immunohistochemistry, Western blot, and in situ hybridization, with the age-matched wild type mice (WT) as controls. Results The mean optical density (MOD) of MAP1B was significantly decreased in each brain region in KO6W compared with WT6W, whereas in KO1W, this decrease was only found in the hippocampus and cerebellum. MAP1B in 6-week mice was much less than that in 1-week mice of the same genotype. The results of Western blot and in situ hybridization showed that MAP1B protein and MAP1B mRNA were significantly decreased in the hippocampus of both KO1W and KO6W. Conclusion The decreased MAP1B protein and MAP1B mRNA in the Fmrl knockout mice indicate that FMRP may positively regulate the expression of MAP1B.
文摘Fragile X syndrome (FXS) is one of the most prevalent mental retardations. It is mainly caused by the loss of fragile X mental retardation protein (FMRP). FMRP is an RNA binding protein and can regulate the translation of its binding RNA, thus regulate several signaling pathways. Many FXS patients show high susceptibility to epilepsy. Epilepsy is a chronic neurological disorder which is characterized by the recurrent appearance of spontaneous seizures due to neuronal hyperactivity in the brain. Both the abnormal activation of several signaling pathway and morphological abnormality that are caused by the loss of FMRP can lead to a high susceptibility to epilepsy. Combining with the research progresses on both FXS and epilepsy, we outlined the possible mechanisms of high susceptibility to epilepsy in FXS and tried to give a prospect on the future research on the mechanism of epilepsy that happened in other mental retardations.
基金Supplementary information is linked to the online version of the paper on the Cell Research website.Acknowledgments We thank Dr Dawei Li (China Agricultural University) for generously providing us with the experimental conditions during the early stages of this project. We thank Dr Ruiming Xu (Institute of Biophysics, Chinese Academy of Sciences) for critical reading of this manuscript and advice. We thank Dr Pinchao Mei (Chinese Academy of Medical Sciences and Peking Union Medical College), Xinqi Liu (Nankai University) and Jiemin Wong (East China Normal University) for discussions and advice. The synchrotronradiation experiments were performed at Shanghai Synchrotron Radiation Facility (SSRF) and NE3A in the Photon Factory. Z.C. is supported by the National Basic Research Program of China (973 Program, 2009CB825501), the National Natural Science Foundation of China (30870494 and 90919043), the New Century Excellent Talents in University (NCET-07-0808) and the Innovative Project of SKLAB. S. H. is supported by the National Key Laboratory Special Fund 2060204. Z. D. is supported by the National Natural Science Foundation of China (J0730639).
文摘Dynamic regulation of histone methylation/demethylation plays an important role during development. Mutations and truncations in human plant homeodomain (PHD) finger protein 8 (PHF8) are associated with X-linked mental retardation and facial anomalies, such as a long face, broad nasal tip, cleft lip/cleft palate and large hands, yet its molecular function and structural basis remain unclear. Here, we report the crystal structures of the catalytic core of PHF8 with or without α-ketoglutarate (α-KG) at high resolution. Biochemical and structural studies reveal that PHF8 is a novel histone demethylase specific for di- and mono-methylated histone H3 lysine 9 (H3K9me2/1), but not for H3K9me3. Our analyses also reveal how human PHF8 discriminates between methylation states and achieves sequence specificity for methylated H3K9. The in vitro demethylation assay also showed that the F279S mutant observed in clinical patients possesses no demethylation activity, suggesting that loss of enzymatic activity is crucial for pathogenesis of PHF8 patients. Taken together, these results will shed light on the molecular mechanism underlying PHF8-associated developmental and neurological diseases.
文摘BACKGROUND Isovaleric acidemia(IVA)is a rare autosomal recessive inherited organic acidemia caused by a genetic deficiency of isovaleryl-CoA dehydrogenase(IVD).Its morbidity is low,but mortality is high.There is no effective cure for this disease.Early identification of IVA using clinical features can significantly slow disease progression and reduce mortality.Here we report a Chinese neonate with two mutations of IVD and share valuable information on this disease.CASE SUMMARY A 12-day-old male neonate with“poor response for 1 d and repeated convulsions accompanied by high muscle tension for 6 h”was hospitalized.The patient was the first child of nonconsanguineous ethnic Chinese parents.He was delivered by cesarean section due to breech position at 39+1 wk of gestation with a birth weight of 3.27 kg.Initially,he suffered from dyspnea and rhinobyon,and at 10 d after birth the patient suddenly developed poor feeding,low response,lethargy and seizures.Organic acid analysis of blood and urine by tandem mass spectrometry and gas chromatography mass spectrometry showed extremely high concentrations of isovaleryl glycine.The patient had an acute episode of IVA causing severe metabolic stress and eventually died.CONCLUSION A new case of an IVA patient carrying c.1193G>A(p.Arg398Gln)and c.1208A>G(p.Try403Cys)mutations is reported in China.
文摘Objective: To explore the possible mechanisms of "JIN San Zhen" (JIN’s 3 acupoints groups) in treatment of mental retardation. Methods: A total of 38 female mice were randomly divided into normal control (n=10), sham operation (n=10), model (n=8) and acupuncture (n=10) groups. "Si Shen Zhen" [4 points around "Baihui" (GV 20): 0.3 cm anterior, posterior, left and right to GV 20 respectively], and "Zhi San Zhen" ["Shenting" (GV 24) and bilateral "Benshen" (GB 13)] of "JIN San Zhen" series are used. The memory ability, AChE positive fiber density and mono amines transmitters of the brain are used as the indexes. Results: After 8 days’ treatment, cerebral ischemia induced mental retardation (decline of learning memory ability) was improved significantly shown by Y maze test (P<0.05-0.01), simultaneously, AChE positive fiber density of the frontal cerebral cortex and hippocampus, serotonie (5 HT), noradrenaline (NA) and dopamine (DA) contents of the brain increased significantly (P<0.05). Conclusion: Acupuncture induced increase of AChE, 5 HT, NA and DA in the brain may contribute to the effect of acupuncture in improving the memory capability of the RD mice.
文摘Although particular chromosomal syndromes are phenotypicaUy and clinically distinct, the majority of individuals with autosomal imbalance, such as aneuploidy, manifest mental retardation. A common abnormal phenotype of Down syndrome (DS), the most prevalent autosomal aneuploidy, shows a reduction in both the number and the density of neurons in the brain. As a DS model, we have recently created chimeric mice from ES cells containing a single human chromosome 21. The mice mimicked the characteristic phenotypic features of DS, and ES cells showed a higher incidence of apoptosis during early neuronal differentiation in vitro. In this study, we examined the induction of anomalous early neural development by aneuploidy in mouse ES cells by transferring various human chromosomes or additional mouse chromosomes. Results showed an elevated incidence of apoptosis in all autosome-aneuploid clones examined during early neuronal differentiation in vitro. Further, cDNA microarray analysis revealed a common cluster of down-regulated genes, of which eight known genes are related to cell proliferation, neurite outgrowth and differentiation. Importantly, targeting of these genes by siRNA knockdown in normal mouse ES cells led to enhanced apoptosis during early neuronal differentiation. These findings strongly suggest that autosomal imbalance is associated with general neuronal loss through a common molecular mechanism for apoptosis.
文摘Intelligence-benefiting acupuncturerefers to the acupuncture-moxibustiontreatment of intellectual disturbances byremoving obstructions in channels andcollaterals,regulating yin and yang,andeliminating pathogenic factors to strengthenthe body resistance,with the effects ofstrengthening the brain,benefiting intelligence,
文摘Congenital hepatic fibrosis is part of many different malformation syndromes, of which oculo-encephalohepato-renal syndrome is the most common. These syndromes largely overlap, and so accurate classification of individual patients may be difficult. We present herein three syndromic siblings who were products of a consanguineous marriage. We investigated in detail at least six organ systems in these patients, namely the liver, brain, eye, kidneys, skeleton, and gonads. The common features observed in these three cases were congenital hepatic fibrosis, retinitis pigmentosa, truncal obesity, rotatory nystagmus, mental retardation, advanced myopia, and high-arched palate. The clinical dysmorphology in these patients was distinct and lacked the major features of the known syndromes associated with congenital hepatic fibrosis. Although some features of these presented cases are similar to those found in Bardet-Biedl syndrome(BBS), the absence of some major criteria of BBS(polydactyly, renal abnormality, and hypogonadism) suggests that this may be a new syndrome. All three patients remain under follow-up in the departments of Gastroenterology, Ophthalmology, and Neurology at Hacettepe University.
文摘Background: Congenital hypothyroidism is the result of a reduction in thyroid hormone production or a decrease in the activity of thyroid hormone receptors and is one of the most preventable causes of mental retardation, deafness, and heart problems in the world. This study aimed to compare the prevalence of congenital hypothyroidism between Nahavand in the west of Iran and Kashmar in the east of Iran during the years 2016 2017. Methods: This is a cross-sectional descriptive study on neonates born in April 2016 to March 2018 in two cities of Nahavand and Kashmar. A few drops of blood from a baby's heel in 3 5 birthdays on a special filter paper (S & S903) became blood samples from the pelvic floor were filtered and dried. The valuation of the samples was performed by the enzyme linked immunosorbent assay method by evaluating the thyroid stimulating hormone. Premature infants, underweight (less than 2,500 grams), a weight of over 4 kg, multiple births, or newborns requiring blood transfusions or any newborn needed to be retaken to the test after two weeks. Results: In the city of Nahavand, the incidence of neonatal hypothyroidism in the years 2016 and 2017 were 6.7 and 9.09 per 1,000 live births. And for the city of Kashmar, this number increased to 5.6 and 4.3 per 1,000 births in 2016 and 2017, respectively. The mean rate of participation in the screening program in the first 3 5 days of birth in Nahavand during two years was 2016 and 2017 to 78.7% and in Kashmar about 94%, which indicates the higher participation of Kashmar. In the city of Nahavand, 64.6% of cases of hypothyroidism reported in boys' neonates and 51.5% of male children in the Kashmar city. Conclusion: The results of our survey indicates that the prevalence of hypothyroidism is high in both Kashmar in eastern Iran and Nahavand in western Iran. Especially in Nahavand city of western Iran, where the prevalence of hypothyroidism is higher than global and internal statistics. Further surveys are required to elucidate the role of iodine deficiency and family marriage in the hereafter.
基金Supported by Foshan Medical Key Science and Technology Project,F.K.[2013]No.79,project number 201308181
文摘Objective To observe clinical efficacy of acupuncture at ]ing-well point combined with educational training for the treatment of children with severe mental retardation. Methods Sixty children with severe mental retardation were randomly divided into ]ing-well point acupuncture plus simple special education and language training group (group A) and simple special education and language training group (group B) with 30 child patients in each group according to registration order. All the patients were treated once every other day, 10 times as a course of treatment. There were 20 days of interval between each course of treatment. Curative effect was analyzed after 3 courses of treatment. Gesell Developmental Scale test was conducted for all children before and after treatment. Development quotient at the functional area of social adaptability, large motor, fine motor, language skill and social behavior of individuals was recorded and compared between groups and before and after treatment to evaluate the curative effect. Results Social adaptability and fine motor of children were improved in the group B after treatment. And in the group A, social adaptability, fine motor, language skill and social behavior of individuals were improved after treatment. Meanwhile, the group A was superior to the group B in curative effect of overall social adaptability and language skill (both P〈0.05). The overall response rate in group B was 23.3% (7/30) and in group A was 46.6% (14/30, P〈0.05). Conclusion Acupuncture at jing-well point combined with educational training can effectively improve the intelligence level of children with severe mental retardation and its curative effect is better than that of simply education and training.
文摘Objective To observe the therapeutic effect of acupuncture combined with ear point taping and pressing on sleep disturbance of the children with mental retardation. Method Thirty children of mental retardation with sleep disturbance were treated with acupuncture combined with ear point taping and pressing therapy, Sìshénzhēn (四神针), Nǎosānzhēn (脑三针), Zhìsānzhēn (智三针), Nièsānzhēn (颞三针), Shǒuzhìzhēn (手智针) were selected as main acupoints, and adjunct points were used according to symptoms and syndrome differentiation. For ear point taping and pressing, ěrshénmén (耳神门 MA-TF1), Pízhìxià (皮质下 MA–AT1), Jiāogǎn (交感 MA-AH7), Xīn (心, heart), Shèn (肾 kidney), Pí (脾 spleen) were selected. The treatment was given two therapeutic courses, thrice each week, 36 sessions constituted one course. Child Sleep Habit Questionnaire (CSHQ) scale was used for assessment of sleep state before and after the treatment. Results After the treatment, among the 30 cases, 11 cases were markedly effective, 16 cases were effective and 3 cases were failed, the total effective rate was 90.0%; after the treatment, the children had significant improvement in the total time of sleep, the time of going to bed for sleep, sleep habit, sleep behavior, awaking state at night, getting-up state in the morning, sleep state in the daytime and the total score (P0.01, P0.001). Conclusion Acupuncture combined with ear point taping and pressing therapy has a positive therapeutic effect on sleep disturbance and increases sleep quality in varying degrees in children with mental retardation.