Objective To retrospectively analysis our experience of embolization of ruptured intracranial aneurysms during the period of cerebral vasospasm (CVS). Methods Thirty-seven patients with ruptured intracranial aneurysms were embolized with electrolytic detachable coils during the period of CVS (days 4 to 14). Group A included the 14 patients with angiographic CVS and group B included 23 patients without angiographic CVS. All except 2 patients were transferred to our department during the CVS period. Results Twelve patients in group A were successfully received the aneurysms embolization and treatment of the CVS with intraarterial papaverine injection and balloon angioplasty. The Glasgow Outcome Scales (GOS) in 3 months were good recovery in 7 patients, moderate disability in 2, severe disability in 1 and dead in 2. Two patients failed the embolization because the microcatheters can't pass the spasmatic parent arteries. All the aneurysms in group B were successfully embolized. The GOS were good recovery in 18 patients, moderate disability in 2, severe disability in 2 and dead in 1. There was no intraprocedural aneurysmal rupture but with 2 thromboembolic events. No rebleeding occurred during the mean 11 months follow-up.Conclusions The so-called “the period of CVS” isn't always associated with CVS in angiograpy. Embolization of ruptured intracranial aneurysms during the period of pure CVS doesn't carry an increased risk. Both the aneurysms and CVS can be treated during the single procedure. It can reduce the rebleeding rate in hospital and improved the prognosis of the patients with CVS.

Objective The Neuroform stent is the first self-expandable intracranial stent designed for the treatment of wide-necked intracranial aneurysms. We report the results of our preliminary experience in combination of this stent and detachable coils to treat patients with wide-necked intracranial aneurysms. Methods From August 2003 to August 2004, 22 patients with 24 wide-necked intracranial aneurysms were treated with combination of Neuroform stents and detachable coils. There are 19 acutely ruptured aneurysms and 5 unruptured aneurysms. Results Twenty-three aneurysms were successfully treated by combination of stents and detachable coils. In one patients with multiple aneurysms, an unruptured small wide-necked aneurysm was successfully treated with the stent deployment but failed coiling. All stents were deployed successfully. Mild stent displacement was found in one patient. Intraaneurysmal contrast media stagnation was not seen immediately after the stents deployment. Total (100%) obliteration of the aneurysm was achieved in 18 aneurysms, and subtotal (more than 90%) obliteration was achieved in 5 aneurysms. All the parent arteries were patency after treatment. In 2 aneurysms, some small coil loops were herniated into the parent artery from the stent struts but did not affect the blood flow within parent artery. No symptomatic brain ischemia was found in perioperative period. Seventeen patients were received a mean of 3 months follow-up and control angiography. No recurrence was found in 16 patients. Recanalization was found in one patient, he received a second embolization and the aneurysm was totally oberliterazation.Conclusions The Neuroform stent is a very safe and effective intracranial stent for treatment of wide-necked intracranial aneurysm. It is very suitable for wide-necked intracranial aneurysm with severely tortuous parent artery. Due to lack of significant radial strength of the stent, the stent can be shifted by a microguidewire or microcatheter when performed superselective catheterization. Because the big struts of this stent, the change of intraaneurysmal hemodynamics after stent deployment was notevident as coronary stent. So dense packing the aneurysm is advocated. Care must be taken when packing the detachable coils after the stent deployment. The administration of dual anti-platelet drug to prevent stent-related thromboembolic complications in the perioperative period is important. Although a good angiographic result is achieved, long-term angiographic follow-up is still necessary.

Objective To retrospectively analyze our experience of embolization of ruptured intracranial aneurysms during the period of cerebral vasospasm (CVS). Methods Thirty-seven patients with ruptured intracranial aneurysms were embolized with electrolytic detachable coils during the period of CVS (days 4 to 14). Group A included the 14 patients with angiographic CVS and group B included 23 patients without angiographic CVS. All except 2 patients were transferred to our department during the CVS period. Glasgow outcome score (GOS) was evaluated 3 months after the treatment. Results Twelve patients in group A successfully received the aneurysm embolization and treatment of the CVS with intraarterial papaverine injection and balloon angioplasty. GOS in 3 months was good recovery in 7 patients, moderate disability in 2, severe disability in 1, and dead in 2, respectively. Embolization failed in 2 patients because the microcatheters could't pass the spasmodic parent arteries. All the aneurysms in group B were successfully embolized. GOS were good recovery in 18 patients, moderate disability in 2, severe disability in 2, and dead in 1, respectively. There was no intraprocedural aneurysmal rupture but with 2 thromboembolic events. No rebleeding occurred during the mean 11 months follow-up. Conclusions The so-called “period of CVS” isn′t always associated with CVS in angiograpy. Embolization of ruptured intracranial aneurysms during the period of pure CVS doesn′t carry an increased risk. Both the aneurysms and CVS can be treated during the single procedure. It can reduce the rebleeding rate in hospital and improve the prognosis of the patients with CVS.

Objective To evaluate double microcatheter technique for detachable coil treatment of wide-necked intracranial aneurysms. Methods Routine endovascular coil occlusion was not achieved in 6 cases of wide-necked intracranial aneurysms. A second femoral arterial sheath was inserted on the opposite side . A second microcatheter was positioned within the aneurysm. The detachable coils were introduced via double microcatheter simultaneously or successively till the aneurysm were compactly embolized. The coils were detached after satisfactorily positioned. Results Total 6 cases of wide-necked aneurysms were successfully embolized with detachable coil. Aneurysmal sacs were 100% embolized in 2 cases, over 90% in 4 cases. 1 case suffered moderate disablement as a result of complication of. Angiographic follow-up in 5 cases revealed no recurrent or rerupture.Conclusions The double microcathter technique may be an optional method during embolization of some complicated wide-necked aneurysms.

To determine the content of dendrobine in Dendrobium nobile from different harvest times and plant parts, to research the inherent rule about it. GC with internal standard was used to determine. The content of dendrobine had significant differences in different periods and parts. The dendrobine content is higher in four-year root than in three-year root. The dendrobine content in the upper segment of stem is the highest, secondly is in the middle seg-ment, and in the low segment is the lowest. This offered evidence to determine the most appropriate harvest time and fair use of different parts for D.nobil.

Objective To explore the diagnosis of cystinosis.Methods The clinical and biochemical information, and gene detection results in a child with cystinosis was retrospective analyzed.Results Four-year-old female presented with photophobia and corneal crystal was found by ophthalmic examination at 2 years old, bilateral kidney stone was found, accompanied by development delay and rickets at 3 years old. Gas chromatography analysis in urine showed that a variety of amino acids were increased, and urine sugar and urinary micro-protein were also increased, which were in accordance with fanconi syndrome. The blood free carnitine was decreased, ester acyl carnitine spectrum was normal, and multi-amino acids such as lysine, valine and arginine were decreased. Gene analysis showed a homozygous mutation of c.696C>G (p.323 N>K) inCTNS gene, which was a known mutation. Both her parents were carrier of heterozygous mutation of c.696C>G inCTNS gene.Conclusion Child with kidney stone, renal damage, combined by multi-system damage such as eyes, bone, and thyroid should be paid attention to identify the cystinosis.

30%) might be a risk factor in HAPE susceptibility.

Objective:To assess the early clinical outcomes of Oxford cementless unicompartmental knee arthroplasty (UKA) in the management of anteromedial osteoarthritis of the anterior medial knee (AMOA).Methods:A retrospective review was conducted on a cohort of 90 patients who underwent primary UKA for AMOA at the Fuzhou Second Hospital between January 2020 and June 2021. The patients were divided into two groups based on the type of prosthesis used: the cementless UKA group and the cemented UKA group. The cementless UKA group included 45 patients (22 males and 23 females), with a mean age of 65.6±7.0 years (ranging from 52 to 81 years). The cemented UKA group consisted of 45 patients, including 21 males and 24 females, with a mean age of 67.9±6.1 years (ranging from 55 to 79 years). The study compared various parameters between the two groups, including the duration of surgery, amount of blood loss, length of hospitalization, pain visual analogue scale (VAS) scores, Hospital for Special Surgery (HSS) scores, and forgotten joint score (FJS). Additionally, radiolucency around the prosthesis, medial proximal tibial angle (MPTA), and mechanical axis deviation (MAD) were observed and measured before and after surgery to assess prosthesis stability, improvement of knee deformity, and knee joint mobility, respectively.Results:Both groups were followed up for a minimum of 18 months. No statistically significant differences were found in demographic data such as gender, age, and body mass index between the two groups. The cementless UKA group demonstrated superior results in terms of shorter duration of surgery (97.8±21.1 min) and less blood loss (70.8±37.6 ml) compared to the cemented UKA group ( P<0.05). However, no significant difference in length of stay was observed between the groups. Postoperative VAS scores, HSS scores, MPTA, and MAD were significantly improved compared to preoperative values in both groups ( P<0.05). The median VAS scores for the cementless UKA group at 6, 12, and 18 months postoperatively were 4.0(3.0, 5.0), 2.0(2.0, 3.0), and 2.0(1.0, 3.0) respectively. The corresponding median HSS scores for the cemented UKA group were 78(75, 82), 85 (80, 89), and 86(82, 90) preoperatively and at 6, 12, and 18 months postoperatively, respectively. The median FJS scores for the cementless UKA group were 73.0(70.5, 76.0), 76.0(74.0, 78.0), and 66.0(63.0, 68.0) preoperatively and at 6, 12, and 18 months postoperatively, respectively. There was no statistically significant relationship between preoperative VAS scores and preoperative FJS scores ( P>0.05). However, there was a significant difference in VAS scores between the two groups at 6 months postoperatively ( P<0.05). The cementless UKA group consistently exhibited better VAS scores and HSS scores compared to the cemented UKA group at 6, 12, and 18 months postoperatively ( P<0.05). The median MPTA values for the cementless UKA group were 85.41°(84.22°, 86.54°), 85.80°(84.74°, 87.41°), 86.51°(85.47°, 88.14°), and 86.80°(86.09°, 88.27°) preoperatively and at 6, 12, and 18 months postoperatively, respectively. The median MAD values for the cementless UKA group were 2.29(1.79, 2.65) cm, 1.11(0.69, 1.75) cm, 1.02(0.65, 1.66) cm, and 0.91(0.61, 1.63) cm preoperatively and at 6, 12, and 18 months postoperatively, respectively. There were no significant differences in MPTA and MAD between the two groups at all time points, except for the preoperative MPTA and postoperative MAD at 6 and 12 months. The incidence of physiological radiolucency around the prosthesis was significantly lower in the cementless UKA group 3 than in the cemented UKA group 28 ( P<0.05). However, no complete radiolucency was observed in either group. Conclusion:Oxford cementless UKA is a highly effective treatment for relieving joint pain and correcting knee deformity in patients with knee AMOA. It offers the advantages of shorter surgical duration, reduced blood loss, and improved subjective outcomes for patients after the operation.

Objective:To analyze the clinical features, genetic characteristics, treatment and follow-up results of patients with hydrocephalus caused by methylmalonic acidemia combined with homocysteinuria, and to discuss the optimal strategies for assessing and treating such patients.Methods:From January 1998 to December 2020, 76 patients with hydrocephalus due to methylmalonic acidemia combined with homocysteinuria in the Department of Pediatrics in 11 hospitals including Peking University First Hospital were diagnosed by biochemical, genetic analysis and brain imaging examination. The patients were divided into operation-group and non-operation-group according to whether they underwent ventriculoperitoneal shunt. The clinical features, laboratory examinations, genotype, and follow-up data were retrospectively analyzed. Data were compared between the two groups using rank sum test, and categorical data were compared using χ 2 test. Results:Among the 76 patients (51 male, 25 female), 5 were detected by newborn screening, while 71 were diagnosed after clinical onset, 68 cases (96%) had early-onset, 3 cases (4%) had late-onset. The most common clinical manifestations of 74 cases with complete data were psychomotor retardation in 74 cases (100%), visual impairment in 74 cases (100%), epilepsy in 44 cases (59%), anemia in 31 cases (42%), hypotonia or hypertonia in 21 cases (28%), feeding difficulties in 19 cases (26%) and disturbance of consciousness in 17 cases (23%). Genetic analysis was performed in 76 cases, all of whom had MMACHC gene variations, including 30 homozygous variations of MMACHC c.609G>A. The most common variations were c.609G>A (94, 62.7%), followed by c.658_660del (18, 12.0%), c.567dupT (9, 6.0%) and c.217C>T (8, 5.3%). Therapy including cobalamin intramuscular injection, L-carnitine and betaine were initiated immediately after diagnosis. A ventriculoperitoneal shunt operation was performed in 41 cases (operation group), and 31 patients improved after metabolic intervention (non-operation group). There was no significant difference in the age of onset, the age of diagnosis, the blood total homocysteine, methionine, and urinary methylmalonic acid concentration between the two groups (all P>0.05). The symptoms of psychomotor development, epilepsy, and visual impairments improved gradually after a long-term follow-up in the operation group. Conclusions:Hydrocephalus is a severe complication of methylmalonic acidemia combined with homocysteinuria. The most common clinical manifestations are psychomotor retardation, visual impairment, and epilepsy. It usually occurs in early-onset patients. Early diagnosis and etiological treatment are very important. Hydrocephalus may improve after metabolic intervention in some patients. For patients with severe ventricular dilatation, prompt surgical intervention can improve the prognosis.

Objectives:To summarize the clinical and genetic characteristics of the patients with isolated methylmalonic acidemia and investigate the strategies for the diagnosis, treatment and prevention.Methods:Three hundred and fourteen patients (180 males, 134 females) with isolated methylmalonic acidemia were ascertained from 26 provinces or cities across the mainland of China during January 1998 to March 2020. Genetic analysis was performed by Sanger sequencing, gene panel sequencing, whole exome sequencing, multiplex ligation-dependent probe amplification or quantitative PCR. According to the age of onset, the patients were divided to early-onset group (≤12 months of age) and the late-onset group (>12 months of age). They were treated by cobalamin, L-carnitine and (or) special diet and symptomatic treatment. Statistical analysis was done using Chi-square test.Results:Fifty-eight of 314 (18.5%) patients were detected by Newborn screening using liquid chromatography tandem mass spectrometry. Five cases (1.6%) had a postmortem diagnosis. Two hundred and fifty-one patients (79.9%) were clinically diagnosed with an age of onset ranged from 3 hours after birth to 18 years. One hundred and fifty-nine patients (71.0%) belonged to early-onset groups, 65 patients (29.0%) belonged to the late-onset group. The most common symptoms were metabolic crises, psychomotor retardation, epilepsy, anemia and multiple organ damage. Metabolic acidosis and anemia were more common in early-onset patients than that in late-onset patients (20.8%(33/159) vs. 9.2% (6/65), 34.6% (55/159) vs. 16.9% (11/165), χ 2=4.261, 6.930, P=0.039, 0.008). Genetic tests were performed for 236 patients (75.2%), 96.2%(227/236) had molecular confirmation. One hundred and twenty-seven variants were identified in seven genes (MMUT, MMAA, MMAB, MMADHC, SUCLG1, SUCLA2, and MCEE), of which 49 were novel. The mut type, caused by the deficiency of methylmalonyl-CoA mutase, was the most common ( n=211, 93%) cause of this condition. c.729_730insTT, c.1106G>A and c.914T>C were the three most frequent mutations in MMUT gene. The frequency of c.914T>C in early-onset patients was significantly higher than that in late-onset patients (8.3% (18/216) vs. 1.6% (1/64), χ 2=3.859, P=0.037). Metabolic crisis was more frequent in mut type than the other types (72.6% (114/157) vs. 3/13, χ 2=13.729, P=0.001),developmental delay and hypotonia were less frequent in mut type (38.2% (60/157) vs. 9/13, 25.5% (40/157) vs. 8/13, χ 2=4.789, 7.705, P=0.030, 0.006). Of the 58 patients identified by newborn screening, 44 patients (75.9%) who were treated from asymptomatic phase developed normally whereas 14 patients (24.1%) who received treatment after developing symptoms exhibited varying degrees of psychomotor retardation. Conclusions:The characteristics of phenotypes and genotypes among Chinese patients with isolated methylmalonic acidemia were analyzed. Expanded the mutation spectrum of the associated genes. Because of the complex clinical manifestations and severe early onset of isolated methylmalonic acidemia, Newborn screening is crucial for early diagnosis and improvement of prognosis. MMUT gene is recommended for carrier screening as an effort to move the test earlier as a part of the primary prevention of birth defects.