Evaluation of Inspection Efficiency of Diatom Artificial Intelligence Search System Based on Scanning Electron Microscope / 法医学杂志

OBJECTIVES@#To explore the application values of diatom artificial intelligence (AI) search system in the diagnosis of drowning.@*METHODS@#The liver and kidney tissues of 12 drowned corpses were taken and were performed with the diatom test, the view images were obtained by scanning electron microscopy (SEM). Diatom detection and forensic expert manual identification were carried out under the thresholds of 0.5, 0.7 and 0.9 of the diatom AI search system, respectively. Diatom recall rate, precision rate and image exclusion rate were used to detect and compare the efficiency of diatom AI search system.@*RESULTS@#There was no statistical difference between the number of diatoms detected in the target marked by the diatom AI search system and the number of diatoms identified manually (P>0.05); the recall rates of the diatom AI search system were statistically different under different thresholds (P<0.05); the precision rates of the diatom AI system were statistically different under different thresholds(P<0.05), and the highest precision rate was 53.15%; the image exclusion rates of the diatom AI search system were statistically different under different thresholds (P<0.05), and the highest image exclusion rate was 99.72%. For the same sample, the time taken by the diatom AI search system to identify diatoms was only 1/7 of that of manual identification.@*CONCLUSIONS@#Diatom AI search system has a good application prospect in drowning cases. Its automatic diatom search ability is equal to that of experienced forensic experts, and it can greatly reduce the workload of manual observation of images.

Effects of buried penis on the structure and function of corpus cavernosum in a rat model / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>While the abnormal appearance of the concealed penis has been well recognized, the effect of buried penis on the structure and function of corpus cavernosum has not been well studied. To explore this issue, we established a rat model and evaluated the effect of buried penis on cavernosum weight, contents and ultrastructure of tissue, and nitric oxide synthase (NOS) activity.</p><p><b>METHODS</b>Two hundred and ten rats were randomly divided into 3 equal cohorts for 2, 4 and 6 months study (groups A, B and C). Each group was randomly divided into buried group (n = 40), control group (n = 15), and normal group (n = 15), respectively. Intra-purse-string suture of the root of the penis was used to establish the model. Macroscopic development was judged by measuring the weight of the corpus cavernosum. Masson's trichrome staining was performed for observing microstructure while a transmission electron microscope was used for observing ultrastructure. The NOS activity was detected by a NOS activity assay kit.</p><p><b>RESULTS</b>Buried penis had no significant influence on the appearance and weight of the corpus cavernosum. Buried penis resulted in decreased smooth muscle content (P > 0.05 in group A, and P < 0.05 in groups B and C) and increased fibrous connective tissue content (P > 0.05 in groups A and B, and P < 0.05 in group C) compared with the normal and control groups. Ultrastructural abnormalities of corpus cavernosum were observed in the 6-month buried group. Moreover, there was decrease of NOS activity in groups B and C (P < 0.05 in group B and P < 0.01 in group C) when compared with the normal and control groups.</p><p><b>CONCLUSION</b>Buried penis affects the structure and function of corpus cavernosum in rats and the effect is positively correlated with the buried time, but there is no significant effect on the macroscopic development.</p>

Concealed penis affects the morphology of the corpus cavernosum in rats / 中华男科学杂志

<p><b>OBJECTIVE</b>To explore the influence of concealed penis on the morphology of the corpus cavernosum in rats.</p><p><b>METHODS</b>Rat models of concealed penis were established by intra-pocket-suture of the root of the penis. Fifty rats were equally assigned to Groups A (2-month) and B (4-month), each further divided into a buried (n = 15) and a normal subgroup (n = 10). Changes in the morphology of the penile cavernous tissue were observed under the light microscope and transmission electron microscope.</p><p><b>RESULTS</b>Compared with Group A, Group B showed significant ultra-structural pathological changes in the corpus cavernosum, including abnormal arrangement of endothelial and smooth muscle cells, massive hyperplasia of interstitial tissues, narrowed cavernous sinus, atrophic smooth muscle cells, degenerated mitochondria, dilated endoplasmic reticula, decreased dense bodies and contractile fibers, and cytoplasmic vacuolization. No significant differences were found in the appearance and weight of the corpus cavernosum between the buried and normal groups (P > 0.05).</p><p><b>CONCLUSION</b>Concealed penis does not significantly affect the appearance and weight of the corpus cavernosum, but causes ultra-structural pathological changes in it with the lengthening of time.</p>

Quantification of phenylalanine in the brain of patients with hyperphenylalaninemia by (1)H magnetic resonance spectroscopy / 中华儿科杂志

<p><b>OBJECTIVE</b>Hyperphenylalaninemia (HPA) is an inborn error of metabolism in which the hydroxylation of phenylalanine (Phe) to tyrosine is disturbed. Accumulation of Phe leads to severe mental and psychomotor retardation. (1)H magnetic resonance spectroscopy ((1)HMRS) is a novel non-invasive method to quantitate the brain metabolites besides Phe concentration in HPA patients. And it could be acquired conveniently on clinical MRI routine scanners. This study aimed to investigate the correlation between blood Phe ([Phe](blood)) and [Phe](brain), the characteristics of blood-brain Phe metabolism and its impacts on mental retardation.</p><p><b>METHOD</b>Totally 32 untreated patients diagnosed with HPA were studied, including 18 boys and 14 girls (age ranging from 33 days to 13 years). The patients were divided into two groups: elder than 4 months old (n = 22) and younger than 4 months old (n = 10). (1)HMRS were performed in all patients. [Phe](brain) were measured by absolute [Phe](brain) using Creatinine as an internal reference. [Phe](blood) were measured and developmental quotient (DQ) or intelligence quotients (IQ) were evaluated.</p><p><b>RESULT</b>(1) [Phe](brain) measured by (1)HMRS ranged from 0.0640 to 0.6296 (M = 0.1542) while the [Phe](blood) was from 0.3804 to 2.5140 mmol/L (M = 1.5210 mmol/L) in all the 32 cases of HPA patients. (2) There was a positive linear correlation (r = 0.6103 (P < 0.01)) between [Phe](blood) and [Phe](brain). And there were interindividual differences in [Phe](brain) in several patients. (3) Variable mental retardation were observed in 23/32 cases in this study. (4) There was a negative correlation between [Phe](blood) and [Phe](brain) to the mental retardation (r(blood) = -0.5045, r(brain) = -0.6471 (P < 0.01)) in 22 cases of the HPA patients older than 4 months. And [Phe](brain) had more significant correlation with mental development than [Phe](blood).</p><p><b>CONCLUSION</b>The [Phe](blood) could correspondingly represent the [Phe](brain) in most HPA patients. The Phe concentration could reflect the degree of mental retardation substantially in 22 cases with HPA older than 4 months. And the [Phe](brain) could more accurately illustrate it. (1)HMRS can be used to quantitate intracerebral Phe concentrations non-invasively in HPA patients. Preliminary findings suggest that interindividual variations in the kinetics of Phe uptake and metabolism do exist. (1)HMRS has great clinical significance in understanding the mechanism of HPA patient's mental retardation, providing proper objective standards for better diagnosis and treatment of HPA patients.</p>

Buried penis decreases nitric oxide synthase of the corpus cavernosum / 中华男科学杂志

<p><b>OBJECTIVE</b>To explore the influence of buried penis on nitric oxide synthase (NOS) activity of the corpus cavernosum in rats.</p><p><b>METHODS</b>The experimental model of concealed penis was established by intra-pocket-suture of the root of the penis. Two hundred and forty rats were equally randomized into a 2, a 4 and a 6 months group, each further divided into a buried (n = 50), a sham operation (n = 15) and a normal subgroup (n = 15). The development of the corpus cavernosum was surveyed by measuring its weight and the ratio to the body weight, followed by determination of NOS activity in the corpus cavernosum by spectrophotometry.</p><p><b>RESULTS</b>No significant differences were found in the corpus cavernosum weight, the body weight and their ratio among the buried, sham operation and normal groups in any experimental stage (P > 0.05). Buried penis decreased NOS activity in the 4- and 6-month groups (P < 0.05 and P < 0.01) compared with the normal group, but effected no significant change in the 2-month group.</p><p><b>CONCLUSION</b>Buried penis decreases the NOS activity of the corpus cavernosum in a positively time-related manner, but with no significant influence on its appearance and weight.</p>

Clinical study of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency in southern and northern Chinese patients / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze characteristics of different hyperphenylalaninemia (HPA) and to discuss the clinical difference between southern and northern Chinese patients with tetrahydrobiopterin (BH4) responsive phenylalanine hydroxylase (PAH) deficiency.</p><p><b>METHODS</b>(1)BH4 (20 mg/kg) loading test was performed in all 108 HPA patients. These patients, 63 males and 45 females, were at a mean age of 7.05 months. A combined phenylalanine (Phe) and BH4 loading test was carried out in the patients who had a basic blood Phe concentration less than 600 micromol/L. The urine pterine profile analysis and the dihydropteridine reductase (DHPR) activity in dry blood filter spot were analyzed simultaneously. (2)BH4 responsive patients were divided to southern and northern groups by their parent's native place and geographic boundary determined by Changjiang River. The change of Phe concentration after BH4 loading test was compared between the two groups.</p><p><b>RESULTS</b>(1)Among the 108 HPA cases, 36 patients (33.3%) were BH4 responsive PAH deficiency, 49 (45.4%) were non-BH4 no responsive phenylketonuria (PKU)and 23(21.3%)were BH4 deficiency (BH4D). The Phe concentration of patients with BH4 responsive PAH deficiency decreased by 49.24% and 65.35% at 8 h and 24 h after oral BH4, 23 in southern group and 13 in northern group among 36 patients. (2)The mean Phe concentration at 24 h after loading test in southern and northern groups were (217.02+/-189.03) micromol/L and 458.75+/-342.54 micromol/L respectively (P<0.05), although the decrease percent of plasma Phe concentration at 2 h, 4 h, 8 h, 24 h was no distinct difference between southern and northern groups (P>0.05).</p><p><b>CONCLUSION</b>Most of mild and moderate HPA patients affected by PAH deficiency show plasma Phe concentration decrease >30% in 24 h after oral BH4 20 mg/kg, few are classic PKU. The responsiveness to BH4 is no difference between southern and northern Chinese patients with BH4 responsive PAH deficiency according to the decrease percent of plasma Phe concentration, although the Phe concentration is lower in southern patients than that in northern patients.</p>

Two ways of constructing concealed penis model in rats: a comparative and analytical study / 中华男科学杂志

<p><b>OBJECTIVE</b>To establish a stable rat experimental model of concealed penis for studying the effect of buried penis on the structure and function of the corpus cavernosum.</p><p><b>METHODS</b>Ninety male SD rats, aged 2 weeks, were randomly divided into 3 groups (A, B and C) of equal number. Groups A and B underwent surgery with intra-purse suture of the penile root and folding suture of the prepuce, respectively, to bury the penis, while Group C were included as sham operation controls.</p><p><b>RESULTS</b>In Group A, death resulted in 4 cases from acute post-operative urine retention, failure in burying the penis occurred in 5 cases because of soft tissue ulceration around the urethral orifice and in another 3 due to loose concealment. In Group B, 1 died from deep anesthesia and 2 from acute post-operative urine retention. With the penile development and erection, 7 in Group A and 10 in Group B protruded the penis in different stages. In Group C, 1 died from deep anesthesia. The operations succeeded in all the other rats in Groups A and B, with the success rates of 36.7% and 56.7%, respectively. And the concealment could be relieved any time during the experiment.</p><p><b>CONCLUSION</b>The experimental rat model of concealed penis can be successfully established by both intra-purse suture of the penile root and folding suture of the prepuce, which is stable and similar to the natural course of this disorder in human.</p>

Study on tetrahydrobiopterin deficiency in Northern Chinese population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To emphasize early differential diagnosis from patients with hyperphenylalaninemia (HPA) and to evaluate the treatment and long-term outcome of patients with tetrahydrobiopterin synthase (BH4) deficiency in Northern Chinese population.</p><p><b>METHODS</b>From 1992 to 2005, a total of 618 patients with HPA were diagnosed and/or cared for in our outpatient clinic. Urinary pterin analysis, detection of dihydropteridine reductase (DHPR) activity in blood, and then BH4 loading tests were carried out to differentiate BH4 deficiency in these patients from classical phenylketonuria. BH4 deficient patients were treated with BH4, levodopa and 5-hydroxytryptophane (5-HTP) immediately while the diagnosis was done to disease. Patientso blood phenylalanine levels, psychomotor and intelligence development were followed up.</p><p><b>RESULTS</b>A total of 38 cases were diagnosed as BH4 deficiency, all of them were revealed as 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency from the extremely decreased urine biopterin, normal DHPR activities and drop down of blood phenylalanine level to normal range within 4 to 8 hours after BH4 loading. The most common manifestations were progressively psychomotor and mental retardation to patients even after taking early dietary treatment. The patients were diagnosed and treated with drugs at the ages of 2.1 months to 13 years. With 4 patients died of pneumonia, 7 patients refused to treatment, only 27 patients were under treatment and followed up. The average full scale development or intelligence quotient (DQ/IQ) of patients who were treated within and after 6 months were 86+/- 10 or 66+/- 7 respectively. Development was not even in different aspects. A significant negative correlation was observed between the level of the DQ and the age of treatment commenced (r was -0.714, P< 0.01). Eleven patients experienced the extrapyramidal movement disorders, 3 of them combined with epilepsy. The extrapyramidal disorders were controlled by administration of levodopa.</p><p><b>CONCLUSION</b>The differential diagnosis for BH4 deficiency should be carried out in all patients with HPA. PTPS deficiency is the most common form of BH4 deficiency in Northern Chinese population. The long-term outcome of these patients benefits from diagnosis and treatment with BH4, levodopa and 5-HTP as early as possible.</p>

Brain white matter lesions of children with phenylketonuria before and after treatment / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To observe brain white matter changes in children with late-treated phenylketonuria (PKU) before and after receiving treatment.</p><p><b>METHODS</b>This study included 19 PKU patients (aged 34-410 weeks) who were administered a low-phenylalanine diet (< 15-50 mg/kg daily) for 8-16 months. The brain MR imaging with spin-echo T1-weighted and T2-weighted sequences in coronal and axial planes was taken before and after treatment. The white matter abnormalities (T2WI high signal intensity) were graded based on the Thompson grading system. Meanwhile the intelligence quotient (IQ) or developmental quotient (DQ) was tested by the Gesell's Intelligence Scale.</p><p><b>RESULTS</b>All 19 PKU patients presented with the brain white matter lesions, manifesting abnormally high T2-signal intensity in the periventricular region around anterior and posterior horns of both lateral ventricles. Different extents of mental retardation were also observed in the 19 patients. The low phenylalanine diet treatment decreased the average grade of abnormal T2-signal intensity from 2.59 to 1.76 (P < 0.05). The mean IQ or DQ improved from 44.8 to 61.6 after treatment (P < 0.05). There was some correlation between the amelioration of brain white matter lesions and IQ or DQ.</p><p><b>CONCLUSIONS</b>The patients with late-treated PKU have a higher occurrence of the brain white matter lesions and mental retardation. A low-phenylalanine diet treatment can partly improve the abnormalities. Brain white matter lesions may play a part in mental retardation.</p>

Delayed Brain Myelination in Children with Phenylketonuria Complicated with Epilepsia / 实用儿科临床杂志

Objective To observe the delayed brain myelination of children with phenylketonuria(PKU)combined with epilepsia,and explore effectiveness of the treatment and provide an objective criteria for patient recovering evaluation.Methods There were 42 PKU patients,aged 3 to 72 months were selected.The concentration of phenylalanine tested by high pressure liquid chromatography was greater than 1.2 mmol/L in blood,diagnosed as PKU.According to electroencephalogram and clinical symptom,21 cases were diagnosed as epilepsy,the other 21 cases were used as control group.All patients were taken MRI before treatment.Myelination in 10 sections(cerebellum,pons,mesencephalon,internal capsule posterior limb,corpus callosum,internal capsule anterior limb,occipital lobe,parietal lobe,temporal lobe,frontal lobe)were evaluated.Results Delayed myelinations were located mainly in the cerebral lobes and corpus callosum,average delayed incidence of the 10 region was 44.8% in epilepsy group and 30.9% in control group.The incidence of the corpus callsum was 80.9% in epilepsy group,52.4% in control group,the number of sections of delayed myelination showed statistically significant between 2 groups(P

Clinical Phenotype of Different Hyperphenylalaninemia Patients / 实用儿科临床杂志

Objective To explore clinical characteristics of phenylalanine hydroxylase(PAH) deficiency in differential diagnosis among hyperphenylalaninemia(HPA) patients and compare the responses to diet treatment in HPA patients.Methods Tetrahydrobiopterin(BH4,20 mg/kg) loading test or combined phenylalanine(Phe,100 mg/kg) and BH4 loading test was carried out among 44 HPA patients.The urine pterine profile analysis and dihydropteridine reductase(DHPR) activity in dry blood filter spot were analyzed simultaneously.Electroencephalogram(EEG) and average full scale development quotient(DQ) were performed in all patients.PAH deficiency patients were given low Phe diet treatment to decrease Phe level for 120-360 ?mol/L and followed up their Phe tolerance.Results Twelve BH4 responsive PAH deficiency patients were diagnosed who were 7 males and 5 females,mean age was 7.8 months.Their metabolic phenotype was moderate or mild HPA.Diet control could decrease Phe level among BH4 deficiency patients but not prevent their neural damage and their EEG abnormal rate was higher.BH4 responsive patients had higher DQ than others and their Phe tolerance increased during diet treatment.Conclusions BH4 responsive PAH deficiency patients can obtain better purpose with diet recipe.The differential diagnosis for BH4 deficiency shall be carried out in all patients with HPA as soon as possible.

An eighteen-year study on phenylketonuria / 中国医学科学院学报

A study on phenylketonuria (PKU) has been carried out in China-Japan Friendship Hospital since 1984. The results revealed that: (1) Totally 603 patients with PKU were diagnosed and treated in the hospital from October 1984 to September 2002. Among which 136 cases were identified by neonatal screening and treated within 3 months. One hundred and ninety-five cases were treated when the children were 3-12 months of age. Another 272 PKU children were diagnosed when they were more than 1 year old. All of these late-treated cases had some signs and symptoms of PKU. Mental retardation was found in 467 cases and various patterns of seizures in 119 cases. After treatment with low-phenylalanine diet, the follow-up for early-treated patients revealed that their physical and mental developments were normal. In late-treated patients, abnormal behaviour was significantly improved and their developmental quotient were elevated. Prenatal gene diagnosis of PKU risk foetus in 22 PKU families was successfully performed. (2) Urinary pterins obtained from 369 HPA patients were measured by HPLC. Twenty two patients with BH4 deficiency have been recognized. Six single base mutations were detected in 18 unrelated northern Chinese BH4 deficiency families, and the mutations at nucleotides 259C-->T and 286G-->A were common mutations. Eighteen BH4 deficient patients were treated with BH4, L-dopa and 5-hydroxytryptophan, and the results were satisfactory. (3) The abnormal rate of EEG was high in untreated patients with PKU, mainly showing epileptiform discharges and partly showing background activity abnormality. The most frequent finding was patchy areas of increased signal intensity in white matter on MRI in the brain of PKU patients, while delayed myelination and brain agenesis were often detected. After dietary treatment, follow-ups with EEG and MRI revealed that the abnormalities were decreased significantly. (4) The relationship between genotype and intellectual phenotype was examined in 29 late-treated patients with classical PKU. It was found that the genotype of 22 patients were compatible with intellectual phenotype and not well matched in 7 cases. The result indicate that the genotype was well matched with intellectual phenotype in classical PKU patients.