Child, Preschool ; Female ; Humans ; Multiple Acyl Coenzyme A Dehydrogenase Deficiency ; pathology ; Rett Syndrome ; pathology

OBJECTIVETo investigate clinical feasibility and technical features of immediate loading with linear occlusion on 2-implant-supported overdenture and to evaluate short-term effect of the treatment

METHODSSix edentulous patients with severe residual ridge resorption were enrolled. Two interforaminal implants were inserted for each patient and then immediate impressions were taken. Implant-supported bar-retained overdentures were restored for the patients within 24 hours. Clinical and radiographic examinations were conducted post-operative 1 week and 1, 3, 6, and 12 months. Thereafter at every 6 months the stability of implants, tissue situations around implants, radiographs and satisfaction level of patients were examined for each patient.

RESULTSSix cases and 12 implants were followed from 9 to 30 months. No implant was loosened or dropped. Sulculus bleeding index was 0-1 and probing depth of sulcus was less than 2 mm. The gingival tissues around the implants were healthy. Radiographic examination showed that bone resorption was less than 1 mm in the first year. The alveolar bone around the implants hasn't show obvious resorption stable height. Patients were satisfied with the implants.

CONCLUSIONSThe results of this study indicate that immediate loading using linear occlusion on implant-supported bar-retained overdenture is predictable in some cases and can achieve satisfaction in the short-term service. Further study is needed to assess the long-term results.

Aged ; Dental Implantation, Endosseous ; Dental Implants ; Dental Prosthesis, Implant-Supported ; Denture Retention ; Denture, Complete, Immediate ; Denture, Overlay ; Female ; Follow-Up Studies ; Humans ; Jaw, Edentulous ; surgery ; Male ; Mandible ; surgery ; Middle Aged

OBJECTIVETo analyze the clinical manifestation, diagnosis and treatment of Schwartz-Jampel syndrome (SJS).

METHODThe clinical data, including demographic, laboratory tests (creatase, creatine kinase, etc.) and electromyography of 4 children with SJS were analyzed.

RESULTAll the 4 patients were male. The age of onset was from 0.5 to 1.25 years (average 0.83 years). The onset of 4 patients was insidious, the age to see doctor was from 2.17 to 10 years (average 5.92 years), body height was less than the third percentile rank in the children of same age and gender, they presented with facial expression stiffness, microstomia, difficult in opening mouth, blepharophimosis, limbs stiffness and, so formed a characteristic phenotype. Investigations showed the creatase in serum increased, creatine kinase (CK): 229 - 1039 U/L (normal value < 200 U/L), Creatine Kinase MB (CK-MB): 30 - 45 U/L (normal value < 25 U/L), lactate dehydrogenase (LDH): 455 - 716 U/L (normal value < 240 U/L). General myotonia potential was found in electromyography, osteoarticular deformities in medical imaging, and muscle biopsy in 2 patients showed type I muscle fibers differed in size and were disproportionate. All the patients took oral vitamin B, and received rehabilitation training, 1 patient took carbamazepine for 1 month, blepharophimosis and limbs stiffness was improved.

CONCLUSIONSJS is a rare autosomal recessive inherited disease. Clinical manifestations of SJS are characteristic facies, skeletal abnormalities, generous myotonia and short stature. Carbamazepine is effective for treatment.

Child ; Child, Preschool ; Humans ; Male ; Osteochondrodysplasias ; diagnosis ; pathology

OBJECTIVETo assess the efficacy of quick meridian needling therapy plus scalp acupuncture on infantile cerebral palsy (CP).

METHODSOne hundred and forty-seven cases of CP were randomly divided into a quick meridian needling therapy plus scalp acupuncture group (group A), a conventional acupuncture group (group B) and a scalp acupuncture group (group C), 49 cases in each one. In group A, quick needling was applied to the Conception Vessel, Governor Vessel, Hand-Yangming, Hand-Jueyin, Foot-Yangming and Foot-Taiyin meridians distributed on four limbs and trunk. One pricking point was 10 mm far from the other one. In scalp acupuncture, motor area, equilibrium area, sensory area, tremor-control area, foot-motor-sensory area, speech No. 2 area, speech No. 3 area, Baihui (GV 20), Sishencong (EX-HN 1), etc. were selected. The needles were stimulated with rotating manipulation and remained for 30-60 min. In group B, the conventional acupuncture was adopted mainly at Dazhui (GV 14), Shenzhu (GV 12), Fengfu (GV 16) and others. In group C, the scalp acupuncture was used and the points selected were same as those in group A for scalp acupuncture treatment. The scores of Gross Motor Function Measure (GMFM) were observed before and after treatment for children. The clinical efficacy of each group was evaluated. By follow-up for 12 months, the condition of independent walking was observed.

RESULTSThe total effective rate in group A was 79.6% (39/49), which was superior to that of group B [49.0% (24/49)] and group C [51.0% (25/ 49)] respectively (both P < 0.05). After treatment, GMFM scores of children were all improved significantly in 3 groups (P < 0.001, P < 0.05), of which, the improvement extent in group A was superior to that of other two groups (both P < 0.05). It was found after follow-up for 1 year that 31 cases could walk independently in group A, which was more than group B (17 cases) and group C (16 cases).

CONCLUSIONThe quick meridian needling therapy plus scalp acupuncture can improve significantly limb motor function of children with cerebral palsy and its therapeutic effect is superior to conventional acupuncture and simple scalp acupuncture.

Acupuncture Points ; Acupuncture Therapy ; Cerebral Palsy ; therapy ; Child ; Child, Preschool ; Female ; Humans ; Male ; Meridians ; Scalp ; physiopathology ; Treatment Outcome

Adenosine Triphosphatases ; genetics ; Cation Transport Proteins ; genetics ; Copper-transporting ATPases ; Gene Deletion ; Humans ; Infant ; Male ; Menkes Kinky Hair Syndrome ; genetics ; Polymorphism, Single Nucleotide

OBJECTIVETo search for an effective therapy for prolapse of lumbar intervertebral disc of yang deficiency and cold coagulation type.

METHODSOne hundred and twenty-six cases were randomly divided into a combined electroacupuncture and Chinese herb group (n=49), an electroacupuncture group (n=42) and a Chinese herb group (n=35). The combined electroacupuncture and Chinese herb group was treated with electroacupuncture at Dachangshu (BL 25), Guanyuanshu (BL 26), Xiaochangshu (BL 27) and Yaoyangguan (GV 3) and oral administration of Chinese herbs for cold-removing and yang-invigorating. The electroacupuncture group was treated with the same electroacupuncture treatment alone and the Chinese herb group with the same self Chinese herbs alone. The therapeutic effects were observed after treatment for 20 days, and the recurrence rates were followed up at 180 days after the last treatment among the three groups.

RESULTSThe cured-markedly effective rate was 79.6% in the combined electroacupuncture and Chinese herb group, 54.8% in the electroacupuncture group and 51.4% in the Chinese herb group, the combined electroacupuncture and Chinese herb group being significantly better than both the electroacupuncture group and the Chinese herb group (both P<0.05) and the therapeutic effect of both the electroacupuncture group and the Chinese herb group being similar (P>0.05). The recurrence rate after 180 days was 15.4% in the combined electroacupuncture and Chinese herb group, 83.3% in the electroacupuncture group and 80.0% in the Chinese herb group, with more obvious decrease in the combined electroacupuncture and Chinese herb group (both P<0.01).

CONCLUSIONElectroacupuncture combined with Chinese herbs is a better therapy for prolapse of lumbar intervertebral disc of yang deficiency and cold coagulation type.

Acupuncture Points ; Adult ; Combined Modality Therapy ; Drugs, Chinese Herbal ; therapeutic use ; Electroacupuncture ; Female ; Humans ; Intervertebral Disc Displacement ; drug therapy ; therapy ; Male ; Middle Aged ; Treatment Outcome ; Yang Deficiency ; drug therapy ; therapy ; Young Adult

OBJECTIVETo analyze the complication rate and survival rate of the patients whose graft-recipient weight ratio (GRWR) less than 0.8% following living donor liver transplantation (LDLT).

METHODSThere were 92 consecutive LDLT patients from January 2001 to December 2007 in West China Hospital, Sichuan University. There were 85 males and 7 females aged from 18 to 65 years old (averaged, 42 years old) and among which 89 patients were involved in the study. There were 15 patients whose GRWR less than 0.8% (group 1), while other 74 recipients were in group 2. Comparing the two groups' complication rates and survival rates and finding out the potential influencing factor of small-size-graft recipients' survival rate.

RESULTSThe survival rates of group 1 and group 2 were 73.3% (11/15) and 71.6% (53/74), respectively. The grade II-V complication rates of group 1 and group 2 were 46.7% (7/15) and 48.6% (36/74), respectively. There were no difference in survival rates (chi(2) = 0.058, P = 0.811) and complication rates (chi(2) = 0.000, P = 1.000) between the two groups. Ascites volume of group 1 and group 2 were (1532 +/- 322) ml and (1466 +/- 110) ml, respectively (t = 0.234, P = 0.815). The condition of the graft's middle hepatic vein had significant influence on small-size-liver recipients' survival rates (chi(2) = 6.821, P = 0.009).

CONCLUSIONSGRWR < 0.8% is not the limitation of the living donor liver transplantation but the outflow tract of the graft must be unobstructed.

Adolescent ; Adult ; Aged ; Female ; Follow-Up Studies ; Graft Survival ; Humans ; Liver Transplantation ; Living Donors ; Male ; Middle Aged ; Postoperative Complications ; Retrospective Studies ; Survival Analysis ; Young Adult

OBJECTIVETo summarize the clinical characteristics of acute pandysautonomia in childhood, to gain better understanding of the diagnosis and differential diagnosis.

METHODSThe clinical data of 6 children with acute pandysautonomia were analyzed and followed-up. All the 6 patients had routine blood and cerebrospinal fluid (CSF), electrocardiography (ECG), electromyography (EMG), cranial magnetic resonance imaging (MRI) and autonomic nerve function tests (head upright tilt test, dermatography test, and thermal/sympathetic sweat response). Other laboratory examinations such as immunologic markers of CSF, electroencephalography (EEG), spinal cord MRI and somatosensory evoked potential (SEP) were also performed in some patients.

RESULTSOf the 6 patients, 1 was male, and 5 were female. The age of onset was from 2.3 to 14.5 years (average 8.2 years). The initial symptoms were gastrointestinal dysfunction in 3 patients and somatic motor dysfunction as their initial symptoms, one had irritability in 1 case, pain in 1 and dysphagia in 1, respectively. Autonomic nerve signs and symptoms: (1) Skin and mucosa are rough and dry, there was no or little perspiration, alacrimia or little tear in all patients. (2) Vision problem appeared in 1 patient, blepharoptosis in 3 patients, pupillary abnormality existed in all patients. (3) Gastrointestinal symptoms were present in all patients. Vomiting and constipation were present in 4 patients, diarrhea and constipation were alternatively present in 1 patient, abdominal distention and abdominal pain were present in 2 patients. (4) Cardiovascular system manifestations included postural dizziness or syncope in 3 patients, tightness and palpitation in 2 patients. (5) Urinary dysfunction was present in 4 patients. In addition, mild to moderate somatic motor dysfunction was present in 5 patients, sensory dysfunction in 3 patients. Autonomic nerve function tests were abnormal in all patients. Laboratory findings included serum IgM antibody to herpes simplex virus and antistreptolysin "O" (ASO) test were positive respectively in 1 patient. The immunological markers in CSF were abnormal in 3 patients and the protein level in CSF was slightly elevated in 3 patients. Cranial MRI was slightly abnormal in 4 patients. ECG was slightly abnormal in all patients. EMG was abnormal in 5 patients. SEP was abnormal in 3 patients. Five patients received IVIG therapy. Five patients were followed-up. One patient died, one lost to follow up and one had slight improvement. Significant improvement was seen in 2 patients.

CONCLUSIONAcute pandysautonomia in children usually had non-specific symptoms and could affect multiple organs. Heterotropia, cardiovascular dysfunction and gastrointestinal dysfunction were commonly seen in these patients. In acute pandysautonomia patients, IVIG seemed to be effective and the prognosis was poor in severe cases.

Acute Disease ; Adolescent ; Autonomic Nervous System Diseases ; diagnosis ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Humans ; Male

OBJECTIVEObese children and adolescents are often complicated with the abnormalities of lipid and glucose metabolism, which are often associated with adulthood hypertension, diabetes and cardiovascular disease. In this study, the blood lipids, blood pressure and carotid arterial intima-media thickness (IMT) in obese children and adolescents were measured to investigate the relationship between the dyslipidemia and early vascular lesions.

METHODA total of 580 obese children and adolescents aged from 7 to 17 years of age were enrolled from 3 hospitals from Jan. 2008 to Sept. 2009. They were divided into 2 groups according to their blood lipoid levels. Ortholiposis group included 100 males and 52 females with a mean age of 10.47 years and a mean body mass index (BMI) of 28.28 kg/m(2). Dyslipidemia group included 305 males and 123 females with a mean age of 10.83 years and a mean BMI of 27.60 kg/m(2). Physical examination, and measurement of blood lipid, glucose and liver enzyme were taken. Carotid IMT was measured for 285 subjects.

RESULT(1) Hypertension was found in 12.5% (19/152) and 20.1% (86/428) patients in ortholiposis and dyslipidemia groups, respectively, with a significant difference (χ(2) = 4.362, P = 0.037). The OR was 1.760 with 95% confidence interval of 1.030 - 3.008. Higher prevalence of hypertension was found in patients with dyslipidemia. (2) The left, right and mean common carotid IMTs of dyslipidemia group were higher than those of ortholiposis group without significant difference (all P > 0.05). The left, right and mean internal carotid IMTs in dyslipidemia group were (0.66 ± 0.15) mm, (0.65 ± 0.15) mm and (0.65 ± 0.15) mm, respectively while these in ortholiposis group were (0.62 ± 0.13) mm, (0.60 ± 0.13) mm and (0.61 ± 0.12) mm, respectively (P < 0.05 for all). (3) Bivariate correlation analysis showed that systolic blood pressure was positively correlated with age, BMI, BMI Z score, waist circumference, hip circumference, uric acid, alanine transaminase, triglyceride, fasting insulin and insulin resistance index (P < 0.05 for all). Moreover, mean carotid and internal carotid IMTs were positively correlated with age, BMI, waist circumference, hip circumference, and triglyceride (all P < 0.05). Multiple linear regression analysis showed that hip circumference and insulin resistance index were independent determinants of systolic pressure. Waist circumference was independent determinant of mean common and internal carotid IMT and triglyceride was independent determinants of mean internal carotid IMT.

CONCLUSION(1) Vascular lesions, including hypertension and thicker tunica intima are common in obese children and adolescents. (2) Vascular lesions are closely related with dyslipidemia, and waist circumference and hypertriglyceridemia are the risk factors.

Adolescent ; Blood Glucose ; metabolism ; Body Mass Index ; Cardiovascular Diseases ; etiology ; metabolism ; Child ; Dyslipidemias ; metabolism ; Female ; Humans ; Hypertension ; etiology ; metabolism ; Lipids ; blood ; Male ; Obesity ; metabolism

This study was purposed to investigate the molecular basis of a para-Bombay phenotype for screening and identification of rare blood group. ABO and H phenotypes of the proband were identified by serological techniques. The exon 6 to exon 7 of ABO gene and full coding region of α-1,2-fucosyltransferase (fut1) gene of the proband were analyzed by polymerase chain reaction and direct sequencing of the amplified fragments. The haplotype of compound heterozygote of fut1 was also identified by cloning sequencing. The results indicated that a rare para-Bombay phenotype was confirmed by serological techniques. Two deletion or insertion variant sites near nucleotide 547 and 880 were detected in fut1 gene. The results of cloning sequence showed that one haplotype of fut1 gene was two bases deletion at 547-552 (AGAGAG→AGAG), and another one was two bases deletion at position 880-882 (TTT→T). Both two variants caused a reading frame shift and a premature stop codon. It is concluded that a rare para-Bombay phenotype is found and confirmed in blood donor population. The molecular basis of this individual is compound heterozygote of two bases deletion on fut1 gene which weaken the activity of α-1, 2-fucosyltransferase.
ABO Blood-Group System ; genetics ; Alleles ; Base Pairing ; Female ; Fucosyltransferases ; genetics ; Genotype ; Heterozygote ; Humans ; Mutation ; Phenotype ; Sequence Deletion