No abstract available.
Pseudohypoaldosteronism*

PURPOSE: Idiopathic thrombocytopenic purpura(ITP) is a relatively common hematologic disease in children. The optimal strategy for treating ITP during childhood is a matter of controversy. In general, platelet count has been the primary, if not the sole measure, on which treatment decisions have been made and outcomes determined. In this study, we tried to find out the correlation between clinical classification of Bolton-Maggs and platelet counts in childhood ITP on initial diagnosis METHODS: Seventy three patients with acute ITP in the Department of Pediatrics, Wonkwang University Hospital from June 1995 to December 2002, were enrolled. We retrospectively analyzed charts and classified our patients into four groups(no, mild, moderate, severe symptoms) according to Bolton-Maggs criteria. RESULTS: The ratio of female to male is 0.82. The peak age incidence was two to five years(41%). It was prevalent in the spring in 23 cases(31%) and winter season in 23 cases(31%). Most common clinical symptoms at presentation were petechiae and purpura in 55 cases(75.1%). According to Bolton-Maggs criteria, our patients, classified into no symptoms, mild symptoms, moderate symptoms and severe symptoms were 9 cases(12%), 22 cases(29%), 23 cases(30%) and 19 cases(25%), respectively. Among the 47 patients with platelet counts below 20,000/mm3, those with no symptoms, mild symptoms, moderate symptoms and severe symptoms were:1 cases(0.02%), 13 cases(27%), 17 cases (36%) and 16 cases(34%) respectively. We found that this classification was highly correlated with the platelet counts on initial diagnosis(P=0.005). CONCLUSION: There was a significant correlation between clinical classification of Bolton-Maggs and platelet counts. Therefore, this classification may be helpful in choosing the appropriate treatment options and evaluating the overall outcomes in childhood ITP.
Blood Platelets* ; Child ; Classification* ; Diagnosis ; Female ; Hematologic Diseases ; Humans ; Incidence ; Male ; Pediatrics ; Platelet Count* ; Purpura ; Purpura, Thrombocytopenic, Idiopathic* ; Retrospective Studies ; Seasons

Aneurysm of the vein of Galen is a rare midline arteriovenous malformation, usually presenting with cardiac failure in infancy or with hydrocephalus and raised intracranial pressure in older children. We experienced a case of the vein of Galen aneurysm diagnosed with computed tomographic (CT) features and magnetic resonance image (MRI), a new imaging modality. Our case was a 3 day-old male neonate and had a nonspesific symptom of high fever without cardiac failure. A brief review of related literature was made.
Aneurysm* ; Arteriovenous Malformations ; Cerebral Veins* ; Child ; Fever ; Heart Failure ; Humans ; Hydrocephalus ; Infant, Newborn ; Intracranial Pressure ; Male ; Veins*

Goltz syndrome is known as a rare mesoectodermal hereditary disease, characterized by focal dermal atrophies with hernias of adipose tissue and also associated with a multitude of possible skeletal, dental, ophthalmological and other abnormalities. We experienced a case of Goltz syndrome. An one day old female newborn had focal atrophic and telangiectatic skin lesions, microphthalmia, syndactyly and urinary tract abnormality. The finding of skin biopsy was consistent with focal dermal hypoplasia. We report the case with a brief review and related literatures.
Adipose Tissue ; Atrophy ; Biopsy ; Female ; Focal Dermal Hypoplasia* ; Genetic Diseases, Inborn ; Hernia ; Humans ; Infant, Newborn ; Microphthalmos ; Skin ; Syndactyly ; Urinary Tract

PURPOSE: IFN gamma sentitizes many tumor cells to TNF alpha and FASL-mediated apoptosis by enhancing the expression of TNF or FAS/CD95 receptor and modulating the activation of caspase and Bcl-2 family. It has been reported that IFN gamma and TNF alpha synergistically caused differentiation and growth inhibition of neuroblastoma cells. Even though some neuroblastoma cell express FASR/FASL on the cell surface, they could not induce apoptosis by ligation of the FAS/CD95 receptor. But the treatment of IFN gamma is reported to induce apoptosis in some neuroblastoma cell lines through the CD95/ CD95L autocrine circuit. In this study, we examined whether IFN gamma could affect TNF alpha and agonistic FAS/CD95 antibody(CH-11)-induced apoptosis against neuroblastoma cell lines that had shown diverse drug sensitivity and resistance. METHODS: CHLA-15, CHLA-90 and LA-N-2 neuroblastoma cells were cultured in IMDM and treated with recombinant IFN gamma TNF alpha and CH-11 antibody. Cell viability was measured by DIMSCAN with a fluorescent calcein-AM. Apoptosis was analyzed through flow cytometry using Annexin V- PE and 7-ADD staining and confirmed by pancaspase and caspase-8 blocking experiments. The expression of TNF RI and FAS/CD95 receptor was evaluated by flow cytometry using the corresponding antibody and PE-conjugated secondary antibody. RESULTS: IFN gamma or TNF alpha alone had no demonstrable cytotoxic effects, whereas both cytokines in combination induced apoptosis synergistically in CHLA-15 and CHLA-90 cells. Although there was no cytotoxicity with the ligation of CH-11 alone in CHLA-90 cells, pretreatment of IFNgammaincreased the sensitivity of CH-11-mediated apoptosis. The expression of TNFRI and FAS/CD95R were nonspecifically enhanced after treatment of IFN gamma without relation to sensitivity to TNF alpha and CH-11. This finding suggest up-regulation of both receptors may contribute to sensitization of TNFalphaand CH-11-mediated apoptosis by IFN gamma in only sensitive cell lines. CONCLUSION: IFN gamma induced sensitization of TNF alpha and agonistic FAS/CD95 antibody-mediated apoptosis on some neuroblastoma cells through up-regulation of TNFRI and FAS/CD95 receptor.
Apoptosis* ; Caspase 8 ; Cell Line ; Cell Survival ; Cytokines ; Fas Ligand Protein ; Flow Cytometry ; Humans ; Ligation ; Neuroblastoma* ; Up-Regulation

PURPOSE: The association between iron deficiency anemia and febrile convulsion in infants has been examined in several studies with conflicting results. Therefore, the authors aimed to evaluate the precise relationship involved. METHODS: In this case-control study, the authors assessed 100 children with a diagnosis of febrile convulsion, aged between 9 months and 2 years, during January 2007 to July 2009. The control group consisted of 100 febrile children without convulsion; controls were closely matched to the cases by age, gender, and underlying disease. RESULTS: The mean ages of the febrile convulsion and control group were 16.3+/-7.4 and 15.8+/-6.1 months, respectively, and the two groups had no differences in clinical features. Iron deficiency anemia (Hb <10.5 gm/dL) was more frequent in the febrile convulsion group than in the control group, although there was no statistical significance. Unexpectably, the RDW (red blood cell distribution width) was significantly lower and the MCNC (mean corpuscular hemoglobin concentration) was significantly higher among seizure cases than among the controls (P<0.05). There is no statistical difference between simple and complex febrile groups in the clinical and laboratory profiles. On multiple logistic regression analysis, iron deficiency anemia was more frequent, but the RDW was lower, among the cases with febrile convulsion, compared with the controls. Conclusions: Our study suggests that the iron deficiency anemia is associated with febrile convulsion, and screening for iron deficiency anemia should be considered in children with febrile convulsions.
Aged ; Anemia, Iron-Deficiency ; Blood Cells ; Case-Control Studies ; Child ; Hemoglobins ; Humans ; Infant ; Iron ; Logistic Models ; Mass Screening ; Seizures ; Seizures, Febrile

OBJECTIVETo study the regularity of migration and distribution of bone marrow stromal cells (BMSCs) in injured spinal cord with intradural space transplantation.

METHODSForty Wistar rats were randomly assigned into 4 groups. The spinal cord injury model was prepared according to the modified Allen method. BMSCs were labeled by CM-Dil. And 5.0 multiply 10(6) cells were transplanted by different channels including intraventricular injection (Group A),injured spinal cord intrathecally injection (Group B), remote intrathecally injection at the L(3)-L(4) level (Group C), and intravenous injection (Group D). Spinal cord was dissected at 24 hours, 1, 2, 3 and 4 weeks after transplantation. Sections of 4 micromolar were cut on a cryostat and observed under fluorescence microscopy.

RESULTSNo fluorescence was observed 24 hours after transplantation in spinal cord injury parenchyma except Group B. One week later, BMSCs in Groups A and C began to migrate to the injured parenchyma; 2-4 weeks later, BMSCs penetrated into the injured parenchyma except Group D. The number of BMSCs decreased at 3-4 weeks after transplantation. The number of cells in Group B decreased faster than that of Groups A and C.

CONCLUSIONSBMSCs transplanted through intraventricular injection, injured spinal cord intrathecally injection and remote intrathecal injection could migrate to the injured parenchyma of spinal cord effectively. The number of BMSCs migrated into injured spinal cord parenchyma is rare by intravenous injection.

Animals ; Bone Marrow Cells ; cytology ; Bone Marrow Transplantation ; methods ; Cell Movement ; physiology ; Male ; Random Allocation ; Rats ; Rats, Wistar ; Spinal Cord Injuries ; pathology ; surgery ; Stromal Cells ; cytology ; transplantation

The generally accepted taste pathway in an animal projects ipsilaterally from the solitary nucleus. However, the path-way of gustatory fibers in the human brainstem has not been sufficiently clarified. A 57-year-old hypertensive man was admitted with sudden dizziness and hemiageusia. A neurological examination revealed also a diminution of taste on the left half of his tongue. A MRI showed a high signal intensity in the right lower pontine area. This case suggests that the unilateral lesion of the pons may lead to contralateral taste disturbances.
Ageusia ; Animals ; Brain Stem ; Cerebral Infarction ; Dizziness ; Facial Nerve ; Humans ; Infarction* ; Magnetic Resonance Imaging ; Middle Aged ; Neurologic Examination ; Pons ; Solitary Nucleus ; Tongue

Objective To explore the molecular basis of familial hypercholesteraemia(FH)by analyzing the phenotype and genotype relationship through identify the low density liporotein receptor(LDL-r)gene mutation in a FH kindred.Methods A male patient of 15 years old was selected to examine the electrocardiogram,lipid.Color Doppler was used to examine heart and great vessels.The promoter region and the 18 exons of the LDL-r gene were screened by touch-down polymerase chain reaction(PCR)and DNA sequencing.Results The caro-tid intima-media thickness(IMT)was increased to 0.23 cm,while coronary flow velocity reserve(CFVR)was decreased to 1.57,and mode-rate mitral regurgitation was found in the proband.The genetic alteration G→A change at 1 448 of exon 10 causing premature stop codon(W462X).The same heterozygous nonsense mutation was also found in his father.The mutation had been reported in other Chinese patients.In vitro experiments showed that W462X mutation leads to low LDL binding and internalization ability.Conclusions The homozygous mutation(W462X)in exon 10 of the LDL-r gene were identified in the clinically heterozygous FH proband.The W462X mutation is the underl-ying cause of hypercholesterolaemia and clinical AS manifestations.W462X is recurrent mutation among Chinese FH patients.It might be a hot spot mutation in LDL-r in Chinese FH.J Appl Clin Pediatr,2009,24(1):18-20

Objective:To study the safety and feasibility of early enteral feeding during therapeutic hypothermia guided by intestinal ultrasound in neonates with hypoxic-ischemic encephalopathy (HIE).Methods:From January 2019 to December 2021, neonates with HIE who received therapeutic hypothermia in the neonatology department of our hospital were retrospectively selected. They were assigned into the ultrasound-guided observation group (admitted from May 2020 to December 2021) and the control group (admitted from January 2019 to April 2020). In the ultrasound-guided observation group, intestinal ultrasound was performed during therapeutic hypothermia. Based on clinical manifestations and ultrasound results, a small amount of enteral feeding [20 ml/(kg·d)] was initiated and gradually increased to total enteral feeding after rewarming. In the control group, 5 ml (once every 3 h) of glucose and sodium chloride solution was given during 72 h of therapeutic hypothermia. After rewarming, enteral feeding was started and gradually increased to total enteral feeding without intestinal ultrasound. The time to start enteral feeding, the time to achieve total enteral feeding, the incidences of feeding intolerance, necrotizing enterocolitis (NEC) and late-onset sepsis were compared between the two groups.Results:A total of 17 cases were in the ultrasound-guided observation group and 18 cases in the control group. The median time to start enteral feeding and to achieve total enteral feeding in the ultrasound-guided observation group were earlier than the control group [36.0 (33.5, 39.0) h vs. 77.0 (74.0, 79.3) h, 6.0 (5.5, 6.5) d vs. 8.0 (7.0, 9.0) d, P<0.001]. No significant difference existed in the incidence of feeding intolerance between the two groups. Neither groups had NEC or late-onset sepsis. Conclusions:Early enteral feeding during therapeutic hypothermia in neonates with HIE is safe and feasible. Intestinal ultrasound helps implementing feeding plan and achieving early total enteral feeding.