Clinical manifestations and gene mutation of X-linked adrenoleukodystrophy: case analysis / 中华内分泌代谢杂志

The clinical manifestations, biochemical parameters and imaging examination, genetic test results, and treatment of 3 cases of X-linked adrenoleukodystrophy(X-ALD) patients were reviewed and analyzed, and the structure of adrenoleukodystrophy protein(ALDP) was analyzed. All 3 patients were male. Patients 1 and 2 were childhood cerebral ALD(CCALD), patients 3 was adrenomyeloneuropathy(AMN), and all of them were misdiagnosed at early stage. Brain magnetic resonance imaging(MRI), and hematologic examinations showed the neurological demyelination of X-ALD, adrenocortical insufficiency, and accumulation of very long chain fatty acids(VLCFAs). Sequencing of ABCD1 gene revealed 3 new pathogenic mutations[c.910delins22(p.A304delins8), c. 887A>C(p.Y296S), and c. 1451_1481del(p.P484fs)], which affected the key structure of ALDP and led to the disease. Patients 1 and 2 received hematopoietic stem cell transplantation, and their condition continued to progress after surgery. Patient 3 was in stable condition. The misdiagnosis rate of X-ALD is high, clinicians should be vigilant. In this study, 3 new mutations were found, which expanded the ABCD1 gene mutation spectrum in patients with X-ALD. It is important to note that early identification and early diagnosis of X-ALD should be made to reduce misdiagnosis and mistreatment.

A severe acute intermittent porphyria patient: Successful treatment and management / 中华内分泌代谢杂志

Acute intermittent porphyria(AIP) is a rare inherited metabolic disease that can cause severe and fatal acute attacks. This article shares the treatment and management of a severe AIP patient. It is proposed that (1) avoiding incentives is essential; (2) emotional problems easily overlooked should be paid attention; (3) long-term follow-up and patient education can improve the prognosis. The patient underwent renal biopsy during the remission period. We found a red-brown-yellow-white refractive index crystal under a polarized light microscope that had not been reported in the previous literature, which was speculated to be a porphyrin crystal.

Approach to the patient with female phenotype 46, XY disorders of sex development / 中华内分泌代谢杂志

The etiology of 46, XY disorders of sex development is complex and the clinical manifestations are various. Patients with a female phenotype often present with primary amenorrhea during adolescence, which is difficult to find. We analyze the clinical features of 3 cases of female phenotype diagnosed by gene sequencing. The pathogenesis, clinical manifestations, diagnosis, and treatment were reviewed.

Effect of Dl-3-n-butyphthalid on learning and memory deficiency and hippocampus synaptic long term potentiation in diabetic mice / 中华行为医学与脑科学杂志

Objective To study the effect and mechanism of Dl-3-n-butylphthalide(NBP) on mem-ory and learning ability in type 2 diabetes model db/db mice. Methods Sixteen male db/db mice were ran-domly divided into the NBP group and diabetes group,with 8 mice in each group. Eight male db/m mice of the same age were treated as the control group. NBP group was given NBP by gavage,while diabetes group and control group were given equal volume vegetable oil by gavage. After 6 weeks treatment,Morris water maze was used to examine the spatial memory and learning ability of the mice in each group. The changes of long-term potentiation ( LTP) in the hippocampus area of mice were detected by electrophysiological tech-niques. RT-PCR and Western blot were employed to measure expressions of VEGF,caspase-3,and Aβ1-42 in hippocampus of mice. Results Compared with the control group((21. 49±4. 41)s),average escape la-tency of day 5 in the diabetes group and NBP group were increased significantly ((51. 69±5. 45)s,(26. 92± 4. 76)s,t=9. 21,2. 35,both P<0. 05). Compared with the control group(7. 00±0. 60),the number of cross-ing the target platform in the diabetes group and NBP group were decreased significantly(2. 34± 0. 27), (4. 95±0. 54),t=-6. 56,-2. 49;both P<0. 05). Compared with the control group((255. 90±54. 24)%), LTP level in hippocampus of the diabetes group and NBP group were significantly decreased ( 130. 97 ± 14. 08)%,(176. 17 ± 18. 96)%,t=-4. 25,-2. 38; both P<0. 05). The relative expression of VEGF, caspase-3,and Aβ1-42 in the diabetes group and NBP group were significantly increased compared with those of the control group (t=4. 59,8. 42;7. 36,3. 85;3. 84,2. 11;all P<0. 05). Compared with the diabetes group,the escape latency of day 5,the number of crossing the target platform and LTP level were improved in the NBP group (t=-7. 25,4. 06,3. 25;all P<0. 05). The decreased expression of caspase-3,Aβ1-42 and increased expression of VEGF were reversed after NBP treatment in db/db mice (t=-4. 14,-2. 31,3. 42;all P<0. 05). Conclusion NBP might improve cognitive function and LTP by exerting anti-apoptosis effect through inhibiting the deposition of Aβ1-42 and upregulating VEGF expression in hippocampus of db/db mice.

The study of the hippocampus pyramidal cells and capillaries in type 2 diabetic mice under electron microscope / 中国糖尿病杂志

Objective To study the ultrastructure changes of hippocampus pyramidal cells and capillaries in genetically diabetic mice C57BL/KsJ (db/db).Methods We chose 5 obese C57BL/KsJ db/db mice of 6 weeks old with fast blood glucose (FBG) higher than 11 1mmol/L as diabetic group and 5 normal weight C57BL/KsJ (?/+) mice with FBG lower than 6 0mmol/L as normal group. Mice were killed at 30 weeks and hippocampus samples were embedded in Epon 812. Thin sections were cut with ultrathin microtome and observed with electron microscopes. Results Pyramidal cells of hippocampus in diabetic mice had significant retrograde changes. The basement membrane of capillaries thickened significantly and endothelial cells and pericytes degenerated.Conclusion The significant pathological changes in hippocampus pyramidal cells and capillaries of diabetic mice may related to dysfunction of cognition.