Objective:To observe the clearance strategies of hemiplegic stroke survivors with foot drop.Methods:Thirty hemiplegic stroke survivors with foot drop formed the observation group and 30 healthy counterparts constituted the control group. A three-dimensional motion capture system was used to observe and compare the minimum toe clearance (MTC) and its variability between the two groups to draw the motion trajectory of the toe in the swing phase of their gaits. The gait parameters were correlated with the toe clearance.Results:The average MTC of the observation group subjects on both the hemiplegic and non-hemiplegic side (12.01±3.36 and 22.38±5.51mm) was significantly smaller than the control group′s averages. The variability of their MTCs on both sides was also significantly greater. Clearance on the hemiplegic side was significantly less and its variability was significantly greater. Among the observation group, MTC on the hemiplegic side was positively correlated with walking speed, step length, swing phase percentage, maximum angle of hip extension, maximum angle of knee flexion, maximum angle of ankle dorsiflexion, and the range of motion of the knee and ankle joints.Conclusions:Hemiplegic stroke survivors with foot drop walk unstably with little toe clearance. It is necessary to intervene at the hip, knee and ankle to improve their obstacle clearance.

BACKGROUND: Limited published research has examined the relationships of negative life events and coping styles with sleep quality in Chinese junior high school students. We aimed to investigate the prevalence of poor sleep quality and to clarify the role of coping styles between negative life events and sleep quality. METHODS: A cross-sectional study of 3081 students was conducted in Ganzhou City, Jiangxi Province, Southeastern China. Adolescent Self-Rating Life Events Checklist, Simplified Coping Style Questionnaire, and Pittsburg Sleep Quality Index were applied to assess negative life events, coping styles, and sleep quality, respectively. Descriptive analyses, independent-samples t tests, one-way analyses of variance, Pearson correlation analyses, and structural equation modeling (SEM) were applied to analyze the data. RESULTS: The prevalence of poor sleep quality was 26.7%. Negative life events (B = 0.038, P < 0.001) and negative coping style (B = 0.049, P < 0.001) demonstrated a positive association with poor sleep quality, while positive coping style indicated a negative association with poor sleep quality (B = -0.029, P < 0.001). Interactions of negative life events and coping styles with sleep quality were not found (all P > 0.05). The association between negative life events and sleep quality was mediated by negative coping styles. CONCLUSIONS Our results indicated that poor sleep quality was common in these Chinese adolescents. Negative life events and negative coping style were associated with an increased prevalence of poor sleep quality, while the positive coping style was related to a decreased prevalence of poor sleep quality. A negative coping style mediated the association between negative life events and sleep quality.
Adaptation, Psychological ; Adolescent ; Child ; China ; Cross-Sectional Studies ; Humans ; Life Change Events ; Psychology, Adolescent ; Psychology, Child ; Sleep

OBJECTIVE: To explore the clinical characteristics and genetic basis for an infant featuring combined pituitary hormone deficiency. METHODS: Clinical data and results of DNA sequencing of the child were analyzed. RESULTS: The 10-month-old male infant presented with recurrent hypoglycemia, extremely poor appetite and constipation, and severe growth retardation from 2 months on, in addition with pituitary hormone deficiency involving growth hormone, thyroid stimulating hormone, and prolactin. Next generation sequencing revealed a novel heterozygous c.767-769del (p.Glu256del) variant of the POU1F1 gene in the patient. CONCLUSION The patient was diagnosed with combined pituitary hormone deficiency due to the POU1F1 gene variant, for which replacement therapy including thyroxine and growth hormone was provided. Hypoglycemia is unusual in patients carrying POU1F1 gene variants and requires close attention in clinical practice. For children with multiple pituitary hormone deficiency, genetic testing should be recommended to determine the cause.

OBJECTIVETo analyze two Chinese pediatric patients with multiple malformations and growth and development delay.

METHODSBoth patients were subjected to targeted gene sequencing, and the results were analyzed with Ingenuity Variant Analysis software. Suspected pathogenic variations were verified by Sanger sequencing.

RESULTSHigh-throughput sequencing showed that both patients have carried heterozygous variants of the CHD7 gene. Patient 1 carried a nonsense mutation in exon 36 (c.7957C>T, p.Arg2653*), while patient 2 carried a nonsense mutation of exon 2 (c.718C>T, p.Gln240*). Sanger sequencing confirmed the above mutations in both patients, while their parents were of wild-type for the corresponding sites, indicating that the two mutations have happened de novo.

CONCLUSIONTwo patients were diagnosed with CHARGE syndrome by high-throughput sequencing.

CHARGE Syndrome ; genetics ; DNA Helicases ; genetics ; DNA-Binding Proteins ; genetics ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Male ; Mutation

Objective: To expand the knowledge of the clinical and molecular characteristics of the children with Bloom syndrome. Methods: Clinical data of two siblings with classic Bloom syndrome of Shanghai Children's Medical Center from January 2009 to June 2017 were obtained and analyzed. The DNA of peripheral blood was collected from two Bloom syndrome siblings and their parents during 2015. The mutations were detected with high-throughput sequencing by Illumina sequencing platform. Results: The two siblings (probands) visited our department for short stature and growth retardation, they had full-term normal delivery after normal pregnancy of their mother. Both cases presented with feeding difficulties, malnutrition, microcephaly and mental retardation, repeated infection, symmetrical short stature and special faces. At first, the proband was an 8-year-3-month old girl, her height was 99.7 cm, body mass index (BMI) 12.07 kg/m², head circumference was 45.5 cm, and birth weight was 1.6 kg. Her younger brother was 3-year-11-month old, his height was 86.6 cm, BMI was 14 kg/m², birth weight was 1.95 kg, and the head circumference reached 36 cm at 16 months. No evidence of cancer and characteristic rash was detected at 8-year follow-up. Pathogenic complex heterozygous mutations c.772_773delCT, p.Leu258Glufs*7 and c.959+ 2T>A in BLM gene were detected in both siblings, which were separately inherited from their unaffected parents. Besides , c.959 + 2T>A has not been reported previously. Conclusions Children with Bloom syndrome are characterized by short stature, microcephaly, special faces, feeding difficulties, and immunodeficiency. And butterfly erythematous rash may be absent. The c.959+2T>A mutation detected in our patients maybe a novel pathogenic mutation.

OBJECTIVETo identify the genetic cause for a 11-year-old Chinese boy with Meier-Gorlin syndrome (MGS).

METHODSChromosomal microarray analysis (CMA) was used to detect potential variations, while whole exome sequencing (WES) was used to identify sequence variants. Sanger sequencing was used to confirm the suspected variants.

RESULTSThe boy has featured short stature, microtia, small patella, slender body build, craniofacial anomalies, and small testes with normal gonadotropin. A complete uniparental disomy of chromosome 16 was revealed by CMA. WES has identified a novel homozygous mutation c.67A>G (p.Lys23Glu) in ORC6 gene mapped to chromosome 16. As predicted by Alamut functional software, the mutation may affect the function of structural domain of the ORC6 protein.

CONCLUSIONThe patient is probably the first diagnosed MGS case in China, who carried a novel homozygous mutation of the ORC6 gene and uniparental disomy of chromosome 16. The effect of this novel mutation on the growth and development needs to be further investigated.

Base Sequence ; Child ; Chromosomes, Human, Pair 16 ; genetics ; Congenital Microtia ; genetics ; Family Health ; Fathers ; Growth Disorders ; genetics ; Heterozygote ; Humans ; Male ; Micrognathism ; genetics ; Mutation ; Origin Recognition Complex ; genetics ; Patella ; abnormalities ; Polymerase Chain Reaction ; methods ; Sequence Analysis, DNA ; methods ; Uniparental Disomy ; genetics

Objective Design short stature panel with gene curration strategy.Methods The gene curation process was introduced in detail.The strength of a gene-disease relationship was evaluated based on publicly available genetic and experimental evidence.This process in short stature panel design and its effect on gene selection was further demonstrated.Results After gene curation, the number of gene in list was effectively decreased from 1 276 to 705.The panel sequencing reached a diagnosis rate of 19.7% among a cohort of 371 nation-wide ascertained short stature patients.The gene curation process reduced the risk of false positive findings and decreased diagnostic cost and working hours without affecting the diagnosis rate.Conclusion Gene curation is an important step for NGS-based test and should be widely exercised.

Objective To explore the clinical manifestation and gene mutation of primary renal glucosuria (PRG). Methods The clinical data and gene detection results of a child with PRG were analyzed. Results A girl aged 2 years and 10 mouths had glucose ++++ by urine dipstick analysis and 22.4 g of the 24 h urine glucose. Her father was urine glucose positive. Genome DNA was extracted from peripheral blood of the girl and her parents, SLC5A2 gene were amplified by PCR for sequencing, including exons and splicing areas. The results showed a homozygous point mutation (c.127-16C>A) in girl, and both of her patents had the same heterozygous mutation. This mutation had been classified to pathogenic mutations by ClinVar data base. Conclusions The diagnosis of PRG is confirmed in this child and SLC5A2 gene mutation is the cause.

[Summary] Microcephalic or Majewski's osteodysplastic primordial dwarfism type Ⅱ ( MOPD Ⅱ) is an extremely rare genetic disease mainly caused by pericentrin ( PCNT) gene mutations. This paper reported one 13-year-old boy, who was admitted because of the slow growth for more than 13 years and deepened skin color over six months. He was diagnosed as MOPD Ⅱ associated with a combination of growth hormone deficiency, type 2 diabetes, hypertension, acanthosis nigricans, multiple café-au-lait spots. On magnetic resonance imaging of brain, no vascular malformations such as aneurysms were shown. There were novel compound heterozygous mutations of PCNT gene in the patient, with the nonsense mutations of c. 502C > T ( p. Gln168 * heterozygous variation) and c. 3103C > T (p. Arg1035* heterozygous variation). His father carried a nonsense mutation c. 3103C > T ( p. Arg1035 *heterozygous variation ) and his mother had a nonsense mutation c. 502C > T ( p. Gln168 * heterozygous variation). After treatment with metformin for three months, his blood glucose returned to normal, and acanthosis nigricans was improved. It seems critical to evaluate the abnormal condition of blood vessels regularly for MOPD Ⅱpatients with PCNT gene mutations.

Objective To analyze the clinical feature, diagnosis and treatment of Alstrom syndrome. Method The clinical data of a case of Alstrom syndrome and the result of her ALMS1 sequencing by the two generation sequencing were retrospectively reviewed. Results The 12 year and 10 month old female suffered from dilated cardiomyopathy, obesity, optic nerve diseases, sensorineural hearing loss, high blood glucose and irregular menstruation since one month of birth. Laboratory examination showed she had high testosterone level, hyperglycemia, hyperlipidemia and fatty liver. High-throughput sequencing confirmed there was ALMS1 gene mutation which includes hybrid frameshift mutations of c.5418delC and p.Y1807Tfs*23, and heterozygous nonsense mutation of c.10549C>T and p.Q3517*, and c.5418delC was a new variation reported for the first time. Conclusion Alstrom syndrome is an autosomal recessive genetic disease, which is characterized by multiple organ dysfunction and metabolic syndrome, and can be diagnosed by gene detection.