Genetic analysis of a Chinese pedigree with Lesch-Nyhan syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic etiology for a Chinese pedigree affected with Lesch-Nyhan syndrome.@*METHODS@#Members of the pedigree who had visited the Genetic Counseling Clinic of Linyi People's Hospital on February 10, 2022 were selected as the study subjects. Clinical data and family history of the proband were collected, and trio-whole exome sequencing (trio-WES) was carried out for the proband and his parents. Candidate variants were verified by Sanger sequencing.@*RESULTS@#Trio-WES revealed that both the proband and his cousin brother had harbored a hemizygous c.385-1G>C variant in intron 4 of the HPRT1 gene, which was unreported previously. A heterozygous c.385-1G>C variant of the HPRT1 gene was also found in the proband's mother, grandmother, two aunts, and a female cousin, whilst all phenotypically normal males in his pedigree were found to have a wild type for the locus, which has conformed to an X-linked recessive inheritance.@*CONCLUSION@#The heterozygous c.385-1G>C variant of the HPRT1 gene probably underlay the Lesch-Nyhan syndrome in this pedigree.

Cervical spondylosis of nerve root type with qi stagnation and blood stasis treated with warming needle with different lengths of moxa stick: a randomized controlled trial / 中国针灸

OBJECTIVE@#To compare the clinical efficacy on cervical spondylosis of nerve root type with qi stagnation and blood stasis treated with warming needle with different lengths of moxa stick.@*METHODS@#Six hundred patients with cervical spondylosis of nerve root type with qi stagnation and blood stasis were randomly divided into 4 groups: a 4 cm length group (150 cases, 5 cases dropped off, 2 cases suspended), a 3 cm length group (150 cases, 6 cases dropped off, 2 cases suspended), a 2 cm length group (150 cases, 6 cases dropped off), and a routine acupuncture group (150 cases, 6 cases dropped off). Warming needle with moxa stick in the length of 4 cm, 3 cm and 2 cm was delivered in the 4 cm length group, the 3 cm length group and the 2 cm length group, respectively. In the routine acupuncture group, simple acupuncture was applied. The acupoints selected in the above groups included Dazhui (GV 14) and bilateral Jiaji (EX-B 2) of C5 and C7, Fengchi (GB 20), Jianzhen (SI 9), Quchi (LI 11), Zhongzhu (TE 3), etc. In each group, the intervention was delivered once daily and 5 times a week. One course of intervention was composed of 2 weeks and 2 courses were required. The TCM syndrome score, the score of clinical assessment scale for cervical spondylosis (CASCS), the score of the brachial plexus traction test of the affected upper limb, F wave occurrence rate and conduction velocity of the ulnar nerve, the median nerve and the radial nerve of the affected upper limb were compared before and after treatment in the patients of each group. The levels of serum inflammatory factors, i.e. interleukin-1β (IL-1β), interleukin-6 (IL-6), tumor necrosis factor α (TNF-α) and hypersensitive C-reactive protein (hs-CRP), were measured before and after treatment in the patients of each group. The clinical cfficacy was evaluated in the 4 groups.@*RESULTS@#After treatment, the results of TCM syndrome evaluation, i.e. the scores of neck pain, activity limitation and upper limb numbness and pain, as well as the total scores; and the scores of brachial plexus traction test were reduced when compared with those before treatment in each group (P<0.01, P<0.05). The scores of subjective symptoms and adaptability, and the total scores of CASCS were elevated in comparison with those before treatment in each group (P<0.01, P<0.05). In the 4 cm length group, compared with the other 3 groups, the scores of neck pain and activity limitation for TCM syndrome evaluation, and its total score were lower (P<0.05, P<0.01); and the scores of subjective symptoms and adaptability, and the total score of CASCS were higher (P<0.05, P<0.01). The score of the brachial plexus traction test in the 4 cm length group was lower than that of the routine acupuncture group (P<0.05). After treatment, F wave occurrence rates and conduction velocity of median nerve and radial nerve were increased when compared with those before treatment in each group (P<0.05, P<0.01). F wave occurrence rate and conduction velocity of the radial nerve in the 4 cm length group were higher than those of the other 3 groups (P<0.05), and those of the median nerve were higher when compared with the routine acupuncture group (P<0.05). After treatment, the levels of serum IL-1β, IL-6 and TNF-α were all reduced when compared with those before treatment in each group (P<0.01, P<0.05); the level of serum IL-6 in the 4 cm length group was lower than those of the other 3 groups and serum level of TNF-α was lower compared with that in the routine acupuncture group (P<0.05). The total effective rate of the 4 cm length group was 78.3% (112/143), which was higher when compared with the 3 cm length group (67.6%, 96/142), the 2 cm length group (65.3%, 94/144) and the routine acupuncture group (53.5%, 77/144), respectively (P<0.05).@*CONCLUSION@#Warming needle with moxa stick of 4 cm in length effectively relieves the clinical symptoms of cervical spondylosis of nerve root type with qi stagnation and blood stasis, improves the nerve function of the upper limbs, and reduces the inflammatory responses caused by nerve compression. The clinical efficacy of this therapy with moxa stick of 4 cm in length is superior to the warming needle with moxa sticks of 3 cm and 2 cm, as well as the routine acupuncture.

Value of Serum Light Chain in Diagnosis and Evaluation of Efficacy for Multiple Myeloma / 中国实验血液学杂志

OBJECTIVE@#To explore the clinical application value of serum light chain (sLC) in the diagnosis and therapeutic efficacy evaluation for multiple myeloma.@*METHODS@#46 patients with newly diagnosed multiple myeloma were selected as MM group and 50 healthy persons as control group. Rate scattering immunoturbidimetry was used to detect serum light chain and immunoglobulin (Ig) in two groups, serum protein electrophoresis was used to detect M protein by agarose gel. Then, the sensitivity and specificity of the two methods in MM diagnosis were analyzed and compared, and the significance of sLC detection in MM diagnosis were discussed. In addition, 15 MM patients after received conventional therapy were tracked, sLC levels in five different therapentic times were recorded, and the effect of sLC in efficacy evaluation of MM was analyzed.@*RESULTS@#There were 11 cases of IgA type, 15 cases of IgG type, 8 cases of light chain κ type, 8 cases of light chain λ type, 2 cases of IgD type, and 2 cases of non-secretion type. The sLC-κ, sLC-λ and their ratio (including light chain type and double clone type), IgA and IgG (except IgD type), as well as albumin, beta-globulin and gamma-globulin levels showed statistically significant differences (P＜0.05) compared with the control group. The sensitivity of serum protein electrophoresis, Ig quantification, sLC and its ratio in the diagnosis of multiple myeloma were 57%, 76% and 65%, and their specificity were 83%, 61% and 90%, respectively. After the second or third chemotherapy, the sLC-κ/λ ratio gradually approached the normal range as the disease reliefes, and the sLC-κ/λ ratio continued to be on or off the line at outliers or further away from the reference value as the disease progresses in MM patients with κ type or λ type.@*CONCLUSION@#sLC detection shows positive significance in early diagnosis of multiple myeloma, SLC monitoring can be used for the efficacy evaluation for treatment of MM patients.

The study of intracranial aneurysms screened by CTA among the population with family history of stroke / 实用放射学杂志

Objective To explore the status of intracranial aneurysms screened by CTA among the population with family history of stroke.Methods 200 patients including 108 men and 92 women in our hospital were involved,who had a family history of stroke.Head CTA examination,physical examination and laboratory tests were performed.Results 200 male and female had no statistical significance in demographic characteristics,past medical history and physical testing (P＞0.05);in lifestyle,smoking and drinking prevalence among male were higher than female (P＜0.05),and drug-usage rate of female were higher than male (P＜0.05).27 cases (13.5 ￥)had intracranial aneurysms,including 13 male cases (12.03 ％) and 14 females cases(15.22 ％),and there was one occurred aneurysm rupture and subarachnoid hemorrhage,the prevalence rate of aneurysm rupture was 87％.The 27 intracranial aneurysms cases had 29 CPC aneurysms,with 2 cases had two aneurysms.The number of aneurysm diameter ＜3 mm were 7 (24.14％),3 7 mm diameter were 12 (41.38％),and ＞7 mm were 10 (34.48％).Classified by the morphology,there were 7 (24.14％) fusiform aneurysm,22 (75.86％) cystic,3 (10.34％) small drops of blood sample.Conclusion CTA is a noninvasive and effective method for intracranial aneurysm,can provide additional valuable diagnostic information particularly for emergency of aneurysm screening.

Relationship between macular edema and subfoveal choroidal thickness in patients with non proliferative diabetic retinopathy / 眼科新进展

Objective To observe the changes of subfoveal choroidal thickness (SFCT) in diabetic patients with non-proliferative diabetic retinopathy (NPDR) and clinically significant macular edema(CSME),and then investigate diabetic SFCT and the relationship of diabetic CT with diabetic retinopathy (DR).Methods The patients were divided into 2 groups according to clinical guidelines of DR in China in 2014,including NPDR CSME + group(21 eyes) and NPDR CSME-group(36 eyes).All patients were underwent best corrected visual acuity (BCVA),intraocular pressure,axial length,slit lamp microscope,indirect ophthalmoscope,EDI-OCT examination,and mean arterial blood pressure measurement.The differences of BCVA,central retinal thickness (CRT) and SFCT between NPDR CSME + group and NPDR CSME-group were studied as well by means of using SPSS 18.0 for data statistics.Results There was no significant difference in gender,age,eye axis and intraocular pressure between NPDR CSME + group and NPDR CSME-group (all P ＞ 0.05).There was significant difference in BCVA between the two groups (P =0.001).The mean SFCT were (328.24 ± 101.92) μm in the NPDR CSME + group and (235.31 ± 66.98) μm in the NPDR CSME-group,and the difference was statistically significant (t =4.156,P=0.000).And plotting changes in CRT against changes in SFCT in patients with CSME revealed a positive correlation(r =0.473,P =0.000).Conclusion SFCT in NPDR CSME + patient is thicker than that in NPDR CSME-patient.And plotting changes in CRT against changes in SFCT in patients with CSME reveals a positive correlation.

Eosinophils, Lymphocytes and Mast Cells in the Nasal Polyps and the Mechanism of Polyp Formation / 上海第二医科大学学报

Objective To investigate the infiltration of inflammatory cells and the pathogenesis of nasal polyps. Methods the nasal polyps were obtained from 42 patients undergoing nasal operations. The tissues from each patient were stained with HE and Toluidine Blue for eosiophils, lymphocyte, plasma cell and mast cell and observed under the light microscope. A mean number of the above cells were counted. All data were analyzed with the Ttest. Results Eosinophils were found predominantly in 12 polyps(28.57％). Lymphocyte infiltration was shown in the other 30 polyps (71.43％). Furthermore, many mast cells with only a few eosinophils were found in the lymphocyte infiltration polyps; the number of mast cells in these polyps were much more than those in eosinophil accumulation polyps with a very significant difference(P＜0.01). Conclusion The accumulation of eosinophils in the nasal polyps does not appear to be related to the presence of mast cells and allergy. The disorder of immunity may play an important role in the formation of nasal polyps.