Objective To explore the initial clinical and imaging characteristics of basal ganglia germinoma in children.Methods Four patients with basal ganglia germinoma were reported.Their clinical features,laboratory findings,radiological manifestations,treatment and outcome were analyzed.They recieved radiation therapy and chemotherapy after diagnosis.All patients were clinically diagnosed,according to the results of low-dose cranial irradiation.The outcomes were followed up for 2 years.Results All patients were male and school-aged(9-13 years) children.The course of the disease ranged from 5 to 13 months.All patients were presented with slowly progressive hemiparesis,and 2 cases of them were presented with cognitive decline and psychosis.Seizure occurred in 2 patients.The serum ?-human chorionic gonadotropin(?-hcG) level was significantly increased in 2 patients(30.16 IU/L and 77.85 IU/L,respectively),and mildly elevated in 1 patient(4.29 IU/L),while serum ?-hcG level in another case was within normal control range.MRI demonstrated mildly high intensity in the left or right basal ganglia on T1-weighted and T2-weighted images without remarkable occupying lesion.Ipsilateral hemiatrophy of the hemisphere and midbrain was also noted.Inhomogeneous Gd-DTPA enhancement was observed.All patients had been treated with radiation therapy and chemotherapy.During 2 years follow up,significant improvement was observed in all patients after therapy,imaging lesions disappeared and the elevated ?-hcG level of those elevated before therapy returned to normal.Conclusions Early diagnosis and treatment for basal ganglia germinoma are critically important to improve the prognosis.In young male patients with progressive hamiparesis,basal ganglia germinoma should be considered for differentiation,if abnormal high intensity signals in basal ganglia on T1-weighted and T2-weighted image with ipsilateral hemiatrophy of the hemisphere are demonstrated on MRI,even without occupying effect.

OBJECTIVETo elucidate the long-term effect of repeated febrile convulsions (FC) on seizure susceptibility in immature rats.

METHODSWarm-water-immersion rat FC model was developed with SD rats 22 days of age, 15 attacks of seizures were induced in the rats every other day, and some of the rats were left un-stimulated for 3 months, then were re-stimulated. Seizure phenomenon was observed, including the latency and the duration of seizures and the temperature of rats. Hippocampal neuron loss and mossy fiber sprouting were detected by thionine staining and Timm staining.

RESULTSAfter the 15th bath, the latency, the duration of seizures, and the temperature of rats were respectively (4.3 +/- 0.8) min, (5.5 +/- 2.9) min, (42.2 +/- 0.7) degrees C. Three months later, on re-stimulation, in 14 of 19 rats with previous FC experience seizures occurred while in only one of 13 non-FC rats seizure occurred and lasted for 8.5 min. Three months later, the latency, the duration of seizures, and the temperature of rats were respectively (5.4 +/- 0.6) min, (19.3 +/- 5.1) min, and (42.4 +/- 0.4) degrees C (4 rats with status epileptics were not included). The incidence of seizures on re-stimulation in rats of FC group (74%) was significantly higher than that in non-FC group (8%) (chi(2) = 13.50, P < 0.01), and the duration of seizures [(19.3 +/- 5.1) min] was significantly longer than those induced in early life [(5.5 +/- 2.9) min] (t = 10.49, P < 0.01). After the 15th bath, no significant change was demonstrated in rats of different groups. While 3 months later, prominent neuron loss was observed in hippocampal CA(3) region in rats with previous FC experience (P < 0.01). Significant mossy fiber sprouting phenomenon was detected after the 15th bath and 3 months later (P < 0.05).

CONCLUSIONRepeated FC in early life enhances long term susceptibility of rats to seizure.

Animals ; Disease Models, Animal ; Disease Susceptibility ; Hippocampus ; pathology ; Rats ; Rats, Sprague-Dawley ; Seizures ; pathology ; Seizures, Febrile ; pathology ; Time Factors

OBJECTIVELysosomal storage diseases are a group of inherited disorders caused by deficiency of lysosomal enzymes or structural components. The manifestations of lysosomal storage diseases are complicated due to different enzyme deficiency. It has been reported that a range of metabolic diseases resulting in abnormal accumulation of metabolic byproducts may exhibit abnormal cytoplasmic vacuolation of lymphocytes. The aim of this study was to elicit the usefulness of vacuolated peripheral lymphocytes detection in screening and diagnosis of lysosomal storage diseases.

METHODClinical data of 42 patients who underwent microscopic and electron microscopic examination of peripheral blood specimens in our department were retrospectively evaluated between January 2008 and December 2009.

RESULTForty-two patients with the suspected lysosomal storage diseases were included, these patients presented with motor and developmental retardation and/or regression. Seizure occurred in 32 patients. Hepatosplenomegaly were found in 4 patients. Three patients presented with declined visual acuity. Atrophy and/or abnormal signals were detected on cranial CT/MRI images in 24 patients. Blood biochemical tests were normal. Serum levels of ammonia, lactic acid and pyruvate were normal. Serum amino acid profiles and urinary organic acid profiles were normal. Serum fatty acid profiles were normal. Vacuolated lymphocytes were detected on microscopic examination of blood film in 14 patients, and 8 of these patients were confirmed to have lysosomal storage disease. Curvilinear body was found on electronic microscopic examination of peripheral lymphocytes specimens in 4 patients, confirming the diagnosis of neuronal ceroid lipofuscinosis. In 3 of these 4 patients, curvilinear body were also found on electronic microscopic examination of skin and/or muscle specimens. Enzyme analysis confirmed the diagnosis of metachromatic leukodystrophy in one patient and Pompe's disease in another patient. Typical pathological changes were found on the examination of bone marrow in 2 patients with normal acid sphingomyelinase activity. So the patients were diagnosed with Niemann-Pick disease type C. The diagnosis of other 6 patients with vacuolated lymphocytes was unknown.

CONCLUSIONBecause of its usefulness and minimal invasiveness, vacuolated peripheral lymphocytes examination should be a screening test for lysosomal storage disease. As for patients with suspected neuronal ceroid lipofuscinosis, electron microscopic examination of peripheral lymphocyte specimens may provide specific clues to the final diagnosis.

Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Lymphocytes ; pathology ; Lysosomal Storage Diseases ; blood ; diagnosis ; pathology ; Male ; Microscopy, Electron ; Retrospective Studies ; Vacuoles

BACKGROUNDThere are controversies about the use of artificial colloids. This research was aimed to determine the effect of various artificial colloids on blood coagulation in the shock stage of severe burn injury.

METHODSTotally, 18 female Ba-Ma mini-pigs were subjected to a 40% total body surface third-degree flame burn under anesthesia. Resuscitation therapy was applied 2 hours after the injury, using the burn shock fluid resuscitation formula commonly accepted in the surgical treatment of burns. The Ba-Ma mini-pigs were randomly assigned to three groups (six pigs in each group): succinylated gelatin group (the artificial colloid used was succinylated gelatin Injection), hydroxyethyl starch group (the artificial colloid used was hydroxyethyl starch (130/0.4)), and allogeneic plasma group (the colloid used was allogeneic plasma). Blood samples were collected from the animals prior to the burn injury and again at intervals of 4, 8, 24 and 48 hours post-injury. The platelet count (PLT), prothrombin time (PT), international normalized ratio (INR), activated partial thromboplastin time (APTT), and fibrinogen (Fib) were measured, followed by a statistical analysis of all results.

RESULTSThe PLT of succinylated gelatin group and hydroxyethyl starch group at intervals of 24 and 48 hours were (124.3 ± 52.7), (78.8 ± 16.4) × 10(9)/L and (159.0 ± 62.8), (87.3 ± 32.0)× 10(9)/L respectively. But in the allogeneic plasma group at intervals of 8, 24, and 48 hours were (234.3 ± 52.6), (136.0 ± 47.4), (75.8 ± 31.0) × 10(9)/L. The decrease were all statistically significant (P < 0.05, P < 0.01) when compared to pre-burn ((383.3 ± 77.9), (382.7 ± 65.7), (381.0 ± 49.4)× 10(9)/L). The PLT among the three groups, at all the time points, had no statistical difference (P > 0.05). Compared to pre-burn ((10.8 ± 0.9), (11.4 ± 0.8), (10.6 ± 0.7) seconds), the PT of succinylated gelatin group and hydroxyethyl starch group at 24 hours were (14.5 ± 1.5) and (16.2 ± 1.3) seconds, whereas in the allogeneic plasma group at 8 and 24 hours the PT were (13.0 ± 0.9) and (14.5 ± 1.5) seconds, i.e., an increase in the statistical significance (P > 0.01). Statistical significance was observed at 8 and 48 hours between the succinylated gelatin group and hydroxyethyl starch group, and at 48 hours between the hydroxyethyl starch and allogeneic plasma group (P < 0.05). The INR at 24 hours were (1.26 ± 0.13) in the succinylated gelatin group, (1.40 ± 0.11) in the hydroxyethyl starch group, and (1.13 ± 0.07) and (1.26 ± 0.13) at 8 and 24 hours in the allogeneic plasma group. When compared with pre-burn ((0.94 ± 0.08), (0.99 ± 0.07), and (0.92 ± 0.06) seconds), the other groups have increased significantly (P > 0.01). The comparison at 8 and 48 hours between the succinylated gelatin group and the hydroxyethyl starch group, at 48 hours between hydroxyethyl starch group and allogeneic plasma group showed statistical difference (P < 0.01). The APTT of succinylated gelatin group and hydroxyethyl starch group at 24 hours were (13.1 ± 1.1) and (14.6 ± 2.9) seconds. The APTT of the allogeneic plasma group at 4, 8 and 24 hours were (10.9 ± 1.4), (11.8 ± 1.1), and (13.7 ± 1.5) seconds. Compared to pre-burn ((11.5 ± 4.2), (11.2 ± 3.3), (10.1 ± 1.4) seconds), they were statistically significant (P < 0.05). There was no statistical difference in the APTT between the three groups, at all the time points. The Fib of the succinylated gelatin group at 24 and 48 hours were (4.3 ± 0.3) and (4.7 ± 0.2) g/L, (4.1 ± 0.3), and (5.0 ± 0.1) g/L in allogeneic plasma group, and at 8, 24, and 48 hours the Fib for the hydroxyethyl starch group was (2.9 ± 0.4), (4.0 ± 0.5), and (4.6 ± 0.6) g/L. Compared to pre-burn ((2.4 ± 0.2), (2.5 ± 0.3), (2.6 ± 0.5) g/L), they were all statistically significant (P < 0.01). There was no statistical difference in APTT between the three groups, at all time points.

CONCLUSIONThe changes of the indices in blood coagulation during the shock phase of a severe burn injury correlate with the stress response to the burn, rather than to the application of HES (130/0.4) and succinylated gelatin.

Animals ; Blood Coagulation ; drug effects ; Burns ; drug therapy ; metabolism ; Colloids ; chemistry ; therapeutic use ; Female ; Fibrinogen ; metabolism ; Partial Thromboplastin Time ; Shock ; drug therapy ; metabolism ; Swine

OBJECTIVEThis review discusses the experimental and clinical studies those show the expression of connexin 36 in the central nervous system and the possible role of connexin 36 in epileptic seizure.

DATA SOURCESAll articles used in this review were mainly searched from PubMed published in English from 1996 to 2012.

STUDY SELECTIONOriginal articles and reviews were selected if they were related to the expression of connexin 36 in the central nervous system and its role in epilepsy.

RESULTSThe distribution of connexin 36 is developmentally regulated, cell-specific and region-specific. Connexin 36 is involved in some neuronal functions and epileptic synchronization. Changes in the connexin 36 gene and protein were accompanied by seizures. Selective gap junction blockers have exerted anticonvulsant actions in a variety of experiments examined in both humans and experimental animals.

CONCLUSIONSConnexin 36 plays an important role in both physiological and pathological conditions in the central nervous system. A better understanding of the role of connexin 36 in seizure activity may contribute to the development of new therapeutic approaches to treating epilepsy.

Animals ; Central Nervous System ; metabolism ; Connexins ; metabolism ; Gap Junctions ; metabolism ; Humans ; Seizures ; metabolism

OBJECTIVETo observe and compare the effects of natural colloid and artificial colloid on pulmonary edema of swine during shock stage of severe burn injury.

METHODSTwelve Guangxi Bama miniature swine were inflicted with 40% TBSA full-thickness burn on the back, and then they were divided into natural colloid group (N) and artificial colloid group (A) according to the random number table, with six swine in each group. At post injury hour (PIH) 2, fluid resuscitation was begun. The main part of electrolyte was lactic acid Ringer's solution. The colloids included swine plasma and hydroxyethyl starch 130/0.4. Before injury and at every hour within PIH 48, heart rate, blood pressure, urine volume, central venous pressure (CVP), and pulmonary arterial wedge pressure (PAWP) were recorded. The mean heart rate, blood pressure, urine volume per hour per kg of body weight, CVP, PAWP, resuscitation liquid volume, and the ratio of fluid intake to output during the first and second PIH 24 were calculated. At PIH 48, lung tissue was harvested for histopathological observation and calculation of lung water ratio. Data were processed with one-way analysis of variance, analysis of variance of repeated measurement, LSD test and independent sample t test.

RESULTS(1) There were no statistically significant differences between two groups in heart rate, blood pressure, and urine volume before injury and during the first and second PIH 24 (P values all above 0.05); during the first PIH 24, the CVP and PAWP of group A were significantly higher than those of group N (P values all below 0.05). Compared with those before injury, the heart rate, CVP and PAWP of two groups during the first and second PIH 24 were significantly higher (P < 0.05 or P < 0.01); the urine volume of group N was decreased during the first PIH 24 (P < 0.05), while there was no significant change in group A (P > 0.05); the urine volumes of two groups during the second PIH 24 were increased, while no statistically significant differences were observed (P values all above 0.05). There were no statistically significant differences in blood pressure of two groups between the first, second PIH 24 and before injury (P values all above 0.05). (2) There were no statistically significant differences in the resuscitation liquid volume and fluid intake to output ratio between two groups during the first and second PIH 24 (P values all above 0.05). (3) The alveolar septum was found widened in varying degrees, and there were edema fluid accumulating and inflammatory cell infiltrating within the pulmonary interstitial of lung tissue sections in both two groups. (4) The lung water ratio of group N [(71 ± 10)%] was not statistically significant different from that of group A [(79 ± 4)%, t = -1.753, P > 0.05].

CONCLUSIONSThe natural colloid or artificial colloid (hydroxyethyl starch 130/0.4) applied during shock stage had similar effects on pulmonary edema in swine with severe burn.

Animals ; Burns ; complications ; Disease Models, Animal ; Fluid Therapy ; methods ; Pulmonary Edema ; etiology ; Shock ; complications ; therapy ; Swine

OBJECTIVETo delineate the characteristics of the clinical manifestation, pathology of skeletal muscle and gene mutations of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episode (MELAS) in children.

METHODThe clinical manifestation, laboratorial data, brain images, muscle pathology and mitochondrial gene mutations were analyzed in 24 patients with MELAS who were diagnosed in Department of Pediatrics, Peking University First Hospital. Their prognosis was evaluated by following up.

RESULTSymptoms of central nervous system such as stroke-like episodes, vomiting, convulsion and headache were present in all the 24 cases. Nine cases had the symptoms of myopathy. Twenty cases had developmental delay. Short stature, being thin and hairy was very common in these cases. Serum lactate level increased in all the cases, pyruvate increased in 17 cases. Elevated CSF lactate was found in 2 cases. Magnetic resonance imaging (MRI) was performed on 24 cases, out of them 23 were abnormal. The lesions mainly involved cerebral lobes. Occipital lobe was the most common site of lesions. Computed tomography (CT) was performed on 13 cases, low density lesions were present in 10 cases, basal ganglia calcifications in 5 cases. Muscle biopsy was performed on 8 cases, ragged-red fibers (RRF) were found in 4/8 cases, and abnormal accumulation of mitochondria were found in 3/8 cases. The mtDNA gene mutational analysis showed A3243G mutation in these patients. The mutation rates varied from 11.6% to 75.0%. The same mutation were found in 4/5 mothers who had the genetic tests, and the mutation rates of the mothers varied from 15.0% to 23.6%. The clinical information of 11 cases was available through recent following up. Three cases died, the others had some degrees of mental retardation.

CONCLUSIONChildren with MELAS had various clinical manifestations. Central nervous system and skeletal muscle were usually involved. Short stature and hypertrichosis were common signs. The prognosis of this disease was disappointing. mtDNA A3243G was the most common mutation in MELAS. Fully understanding the characteristics of its clinical manifestation, laboratory tests, brain image, muscle pathology and molecular features can be helpful to the early diagnosis and treatment.

Acidosis, Lactic ; blood ; Adolescent ; Brain ; diagnostic imaging ; pathology ; Child ; Child, Preschool ; DNA Mutational Analysis ; DNA, Mitochondrial ; genetics ; Electroencephalography ; Female ; Follow-Up Studies ; Humans ; Infant ; MELAS Syndrome ; diagnosis ; genetics ; pathology ; Magnetic Resonance Imaging ; Male ; Muscle, Skeletal ; diagnostic imaging ; pathology ; Point Mutation ; Pyruvic Acid ; blood ; Stroke ; diagnostic imaging ; genetics ; pathology ; Syndrome ; Tomography, X-Ray Computed

OBJECTIVETo analyze and review the characteristics of leukoencephalopathy with vanishing white matter (VWM).

METHODSThe clinical features including clinical manifestations, neurologic signs, cranial MRI and laboratory tests in 9 patients with the diagnosis of VWM were analyzed and the characteristics of the disease were reviewed.

RESULTS

CLINICAL MANIFESTATIONS8 cases had symptoms involving central nervous system, 1 case only showed abnormal cranial MRI findings. The onset of the disease occurred between 6 months to 3 years of age. Family history was positive in 5 cases. Almost all cases had normal psychomotor development before the onset of the disease. The initial symptom was usually movement disorder with predominant involvement of lower limbs. The onset or deterioration of the disease was followed by respiratory tract infection in 6 cases and minor head trauma preexisted in 3 cases. The course of the disease was progressive in 7 cases and there was episodic deterioration in 4 cases. Mental abilities were relatively better preserved. Head circumference was normal in 7 cases. Positive upper motor unit signs were found in 8 cases and ataxia in 4 cases. Bilateral optic nerve atrophy was found in 3 cases. Cranial MRI indicated diffuse and symmetrical involvement of deep white matter which showed long T(1) and T(2) signal. Subcortical white matter was also involved with predominance in frontal and parietal lobes. Flair image showed symmetrical high signal intensity in cerebral white matter with low signal intensity similar to that of CSF in partial area or low signal in most area of white matter with only meshwork of higher signal preserved. The results of all the laboratory tests including the enzyme and biochemical test specific for some well-known leukoencephalopathy were normal.

CONCLUSIONSThe clinical features of VWM include: 1. Initial symptom is usually movement disorder; 2. Movement disorder is more prominent compared to mental retardation; 3. Cranial MRI shows symmetrical abnormal T(1) and T(2) signal in deep white matter with signs of vanishing white matter. Exclusion of other hereditary and acquired leukoencephalopathy is necessary for diagnosis. Final diagnosis should be made on the basis of genetic evidence.

Adolescent ; Age of Onset ; Brain ; pathology ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Leukoencephalopathies ; pathology ; Magnetic Resonance Imaging ; Male ; Movement Disorders ; physiopathology

OBJECTIVEThe congenital muscular dystrophies (CMD) are a clinically and genetically heterogeneous group of neuromuscular disorders with progressive muscle wasting and weakness that begin during neonatal or early infantile period. To study the clinical diagnosis, immunohistochemical feature and follow-up information of CMD, data of 8 cases with CMD were analyzed.

METHODSImmunohistochemical features of biopsied muscle specimens were summarized and analyzed by using anti-laminin alpha2 (merosin), anti alpha-dystroglycan (alpha-DG) and anti beta-dystroglycan (beta-DG) antibodies.

RESULTSThese patients mostly presented at birth or during the first six months of life with muscle weakness, hypotonia, contractures, and feeding difficulty or respiratory dysfunction. Hematoxylin-eosin staining of skeletal muscle specimens from these patients showed typical characteristics of CMD. Differences in fiber size, with predominantly small and round fibers, and dense connective tissue infiltration were seen. Four of the 8 patients were merosin-stain negative, which might be due to primary merosin deficiency. T2-weighted magnetic resonance imaging of the brain shows abnormalities of the white matter. Four cases were merosin-stain positive, and two of them also had hypoglycosylation of alpha-dystroglycan. Two patients had mental retardation. One of them had optic nerve atrophy and abnormal brain structure.

CONCLUSIONSTwo types of CMD were present in our group. Merosin-deficient congenital muscular dystrophy (congenital muscular dystrophy 1A, MDC1A) was more common, accompanied by abnormalities of the white matter. "Alpha-dystroglycanopathy" could be seen in merosin-positive cases.

Female ; Humans ; Infant ; Laminin ; deficiency ; Male ; Muscular Dystrophies ; congenital ; diagnosis ; metabolism

OBJECTIVEMultiple sclerosis is a demyelinating disease frequently showing a relapsing-remitting disease course. Clinical manifestations of 25 inpatients with MS were summarized and analyzed so that the clinical features and therapeutic approaches to childhood multiple sclerosis (MS) were investigated in order to improve its diagnosis and management.

METHODSClinical features and information during following-up of 25 cases with MS from June 1993 to May 2006 were collected and analyzed.

RESULTSAmong the 25 cases, 16 were female and the F:M ratio was 1.78:1. The relapsing-remitting type was seen in 21 cases, the secondary progressive MS in 3 cases and the classification was impossible in one case. The mean age of onset was 6.7 years (2-12) with various initial symptoms including visual loss (11 cases), cortical symptoms (8 cases with seizures, consciousness disturbance, aphasia and apraxia, etc.), myeleterosis (3 cases), symptoms of brainstem (2 cases) and cerebellar ataxia (1 case). Fever was present in 10 cases at the onset. Nine cases were monosymptomatic, while the other 16 had multiple symptoms. Visual loss occurred in 19 cases during the course of MS and 22 were found to have abnormal visual evoked potential (88%). The mean course of disease was 8.5 years (1.2-17.2) and 0-4 times of recurrences (0 means no new clinical attack occurred during following-up period).

CONCLUSIONSMS is increasingly recognized as a disease affecting children though it is uncommon. Childhood MS possesses some manifestations different from those of adults. There was a female predominance. The most common finding at the onset of disease was optic neuritis. Other features include acute onset and shorter course of disease. Atypical demyelinating symptoms were often seen. White matter lesions on MRI are required for the diagnosis. CSF oligoclonal bands could be found less commonly than in adults. Neurological sequelae were less often seen than in adults MS even though optic nerve atrophy and visual loss were relatively common. Steroid and IVIG are effective in acute period treatment.

Age of Onset ; Child ; Child, Preschool ; Demyelinating Diseases ; etiology ; Disease Progression ; Female ; Humans ; Immunoglobulins, Intravenous ; immunology ; Male ; Multiple Sclerosis ; immunology ; physiopathology ; therapy ; Optic Neuritis ; etiology ; immunology ; Secondary Prevention