Achalasia is a rare primary oesophageal motility disorder that presents as a functional obstruction at the oesophago-gastric junction. The prevalence of achalasia in Down syndrome is much higher, which implies a unique association between these two uncommon conditions. Although the exact aetiology of achalasia is unknown, studies have proposed that its pathogenesis is related to autoimmune, infectious or genetic factors, leading to the intrinsic loss of inhibitory myenteric neurons in both the oesophagus and lower oesophageal sphincter. We herein report the case of a 16-month-old girl with Down syndrome and achalasia who was initially treated for gastro-oesophageal reflux disease. The diagnosis of achalasia was made only when her condition deteriorated, with subsequent failure to thrive, and upon further investigations, including barium swallow study and upper endoscopy. We also review the various mechanisms postulated in the development of achalasia in Down syndrome, as well as the various treatment modalities available for this rare disorder.
Airway Obstruction ; Body Weight ; Down Syndrome ; complications ; diagnosis ; Esophageal Achalasia ; complications ; diagnosis ; Female ; Fluoroscopy ; Gastroesophageal Reflux ; complications ; diagnosis ; Humans ; Infant ; Karyotyping

Child ; Child Nutrition Disorders ; therapy ; Child, Preschool ; Humans ; Infant ; Infant Food ; standards ; Infant Formula ; methods ; Infant, Newborn

Acute Disease ; Adolescent ; Adult ; Anticonvulsants ; therapeutic use ; Antidotes ; therapeutic use ; Bridged-Ring Compounds ; poisoning ; Diazepam ; therapeutic use ; Drug Therapy, Combination ; Electroencephalography ; Female ; Humans ; Male ; Poisoning ; drug therapy ; Treatment Outcome ; Unithiol ; therapeutic use

Objective To explore a more reasonable and effective therapeutic regimen and evaluate prognostic factors in hepatoblastoma patients after combined therapy.Methods Sixteen patients diagnosed on hepatoblastoma between Jan.2000 and Nov.2007 were reviewed and followed-up.Resection with chemotherapy was taken among 16 cases.Chemotherapy included pre-operation and post-operation.Five cases were cured by transcatheter arterial chemombolization(TACE).Six cases were cured by single chemotherapy(both TACE and single chemotherapy were taken in 2 cases).Five cases weren't cured by pre-operation chemotherapy.Nine cases were subjected to curative resection,3 cases to alleviative resection,2 cases with single chemotherapy,1 case with single TACE,and 1 case refused operation and left hospital.Their mean survival duration was 13.5 months(3-98 months).SPSS 13.0 software was used to analyze the data.Results The total survival rate of cases as stage Ⅳ as lower than cases as stage Ⅰ,Ⅱand Ⅲ.Both alpha-fetoprotein(AFP)100 000 ?g/L cases had worse survival rate.The prognosis of mixed type was better than fetal type,embryonal type and anaplasia type.The survival rate of cases with standard chemotherapy was higher than cases with unstandard chemotherapy.And the surgical resection cases had better survival chance than non-surgical resection cases.The survival rate of surgical residual cases was worse than non-surgical residual cases.Conclusions Chemotherapy can improve the total survival rate and long-term survival rate of hepatoblastoma patients.TACE is a safe and effective choice for hepatoblastoma patients.We need to be alert and make the diagnosis as early as possibe,and treat it early and properly.

Objective:To investigate the inhibitory effect of TNF-?on hTERT gene expression in human myelogenous leukemia cell line K562 and K562/ADM and to study the influence of changed telomerase activity on expression of multi- drug resistance-1(mdr 1)gene.Methods:K562 and K562/ADM cells were treated with 5?10~6 U/L TNF-?for 24 h, then cell proliferation was detected by MTT assay and cell apoptosis was detected by flow cytometry.The expression of hTERT and mdrl mRNA was detected by RT-PCR and the telomerase activity was detected by ELISA.Results:TNF-?in- hibited the growth of K562 and K562/ADM cells and the inhibition showed a time-effect relationship(P

OBJECTIVETo evaluate the first and second assay kits currently used in blood centers for screening HCV infected blood, and to provide basis for a better match of the two assay kits.

METHODSUsing the newly developed multi-recombinant-HCV-antigen supplementary assay kit, the authors evaluated concurrently the specificity and sensitivity of two domestic and one imported anti-HCV detection kits.

RESULTSDiscrepancy in specificity and sensitivity existed among the two domestic HCV kits, and overall quality was slightly below that of leading or main stream imported HCV kit.

CONCLUSIONThe newly developed multi-recombinant-HCV-antigen supplementary assay kit is useful in the evaluation of HCV antibody detection kit currently in use. It provides qualified assessing kit to capture antibodies against various HCV antigens. The present paper provided guidance for selecting a better match of the two screening kits and improved screening efficiency.

Blood Donors ; Evaluation Studies as Topic ; Hepacivirus ; genetics ; immunology ; Hepatitis C Antibodies ; blood ; immunology ; Hepatitis C Antigens ; genetics ; immunology ; Humans ; Reagent Kits, Diagnostic ; standards ; Sensitivity and Specificity

Adult ; Amphotericin B ; therapeutic use ; Cryptococcosis ; diagnostic imaging ; pathology ; therapy ; Female ; Humans ; Lung Diseases, Fungal ; diagnostic imaging ; pathology ; therapy ; Male ; Middle Aged ; Radiography, Thoracic

Adult ; Diagnosis, Differential ; Humans ; Lung ; pathology ; Lung Diseases, Interstitial ; diagnosis ; drug therapy ; pathology ; Male ; Middle Aged

INTRODUCTIONThis study examined the characteristics and trends in the incidence of inflammatory bowel disease (IBD) among children in Singapore.

METHODSWe retrospectively reviewed all patients under 18 years diagnosed with IBD over a 14-year period. Information on demographics, disease presentation, laboratory findings, radiological investigations, and endoscopic and histological findings were obtained from the patients' medical records.

RESULTS32 patients were diagnosed with IBD, 30 of whom had Crohn's disease and 2 had ulcerative colitis. The incidence of IBD rose from an initial rate of 2.2 per 100,000 patients in the year 2000 to a peak of 11.4 patients per 100,000 patients by 2008. Median age of onset of symptoms was 10.5 years. There were more boys (63%) than girls in the group and a higher representation of Indians (34.4%). The most common presenting symptoms were abdominal pain (87.5%), diarrhoea (75.0%) and weight loss (71.9%). Extraintestinal manifestations such as fever and arthralgia were found in over 50% of patients. The most common physical findings were perianal abnormalities (56.3%), mouth ulcers (37.5%) and growth failure (15.6%). Abnormal laboratory findings such as low albumin, raised erythrocyte sedimentation rate, anaemia, thrombocytosis and high C-reactive protein were found in nearly half of the patients. Endoscopic and histological findings showed that a majority of patients (90.6%) also had evidence of inflammation in the upper gastrointestinal tract.

CONCLUSIONPaediatric IBD is on the rise. The higher occurrence in Indians, earlier onset and more florid presentation may suggest different genetic and environmental influences specific to Asian children.

Adolescent ; Age of Onset ; Child ; Child, Preschool ; Colitis, Ulcerative ; diagnosis ; Crohn Disease ; diagnosis ; Environment ; Ethnic Groups ; Female ; Genetic Predisposition to Disease ; Humans ; Inflammation ; Inflammatory Bowel Diseases ; diagnosis ; epidemiology ; ethnology ; therapy ; Male ; Retrospective Studies ; Singapore ; epidemiology ; Treatment Outcome

OBJECTIVETo study the proportion and mechanism of relieving asthma of drug partnership comprising herbal Ephedrae & Pheretima.

METHODTo study relaxant effect on 10 micromol x L(-1) carbachol (CCh) and 10 micromol x L(-1) histamine (His) precontracted isolated tracheal rings and lowering effect on short-circuit current (Isc) increase induced by 10 micromol x L(-1) CCh with 3 proportions of 1:1, 1:3, 1:9 extract.

RESULT1:3 proportions dose-dependently relaxed CCh-precontracted isolated tracheal rings, IC50 of 1:1, 1:3 is 7.5, 15 mg x mL(-1) respectively, 1:9 could not produce 50% inhibition effect on CCh-evoked contraction; 3 proportions also dose-dependently relaxed His-precontracted isolated tracheal rings, IC50 of 1:9, 1:3 and 1:1 is 0.19, 0.61, 1.8 mg x mL(-1) respectively. On the other hand,the orders potency of the decrease effect on CCh-evoked short circuit current increase is 1:3 > 1:1 > 1:9. The difference is not significant (P < 0.05).

CONCLUSIONHerbal Ephedrae & Pheretima had tracheal muscle relaxant and epithelium ion secretion inhibition effect, its mechanism of relieving asthma involved anti-CCh and anti-His effect 1:3 was the most appropriate dosage ratio in the anti-asthmatic drug partnership.

Animals ; Anti-Asthmatic Agents ; administration & dosage ; pharmacology ; Asthma ; physiopathology ; Dose-Response Relationship, Drug ; Drugs, Chinese Herbal ; administration & dosage ; isolation & purification ; pharmacology ; Ephedra sinica ; chemistry ; Guinea Pigs ; Histamine Antagonists ; pharmacology ; In Vitro Techniques ; Male ; Materia Medica ; administration & dosage ; isolation & purification ; pharmacology ; Muscle Relaxation ; drug effects ; Muscle, Smooth ; drug effects ; Oligochaeta ; chemistry ; Plants, Medicinal ; chemistry ; Rats ; Rats, Sprague-Dawley