Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy

Previous reports have established that the telomeric copy of the survival motor neuron (SMNT) gene and the intact copy of the neuronal apoptosis inhibitory protein (NAIP) gene are preferentially deleted in patients with spinal muscular atrophy (SMA). Although deletions or mutations in the SMNT gene are most highly correlated with SMA, it is not clear to what extent NAIP or other genes influence the SMA phenotype, or whether a small fraction of SMA patients actually have functional copies of both SMNT and NAIP. To evaluate further the part of SMNT in the development of SMA, we analyzed 280 asymptomatic SMA family members for the presence or absence of SMNT exons 7 and 8. We report the following observations: (i) 4% of the sample harbored a polymorphic variant of SMNT exon 7 that looks like a homozygous deletion; (ii) approximately 1% of the parents are homozygously deleted for both exons 7 and 8; (iii) one asymptomatic parent lacking both copies of SMNT exons 7 and 8 displays a 'subclinical phenotype' characterized by mild neurogenic pathology; (iv) another asymptomatic parent lacking both SMNT exons showed no signs of motor neuron disorder by clinical and neurodiagnostic analyses. The demonstration of polymorphic variants of exon 7 that masquerade as homozygous nulls, and the identification of SMA parents who harbor two disease alleles, serve as a caution to those conducting prenatal tests with these markers.      

GC/MS内标法测定蛋黄磷脂中花生四烯酸和二十二碳六烯酸含量

ＧＣ／ＭＳ内标法测定蛋黄磷脂中花生四烯酸和二十二碳六烯酸含量沈晓京，赖炳森，汪聪慧，董风霞（解放军北京医学高等专科学校生化教研室，北京１０００７１；北京公安部第二研究所仪器分析室，１０００３８）磷脂中不饱和脂肪酸是体内多烯酯酸的重要来源，尤其是机体正...     

Migraine trigger factors in a non-clinical Mexican-American population in San Diego county: implications for etiology

We conducted an investigation of migraine headache in a general population of Mexican-Americans living in San Diego county. Specific headache triggers were reported and analyzed, the most frequently reported for females with migraine being missing meals (58.9%), weather changes (54.4%), menstruation (53.6%), post-crisis letdown (52.7%), and fatigue (51.8%). The most frequently reported trigger factors for migraines reported by males were fatigue (58.8%), sleep (as a precipitating factor) (56.3%), post-crisis letdown (41.2%), and weather changes (37.5%). Trigger factors were further evaluated using stratification by presence or absence of Raynaud's phenomenon (RP), menstrual migraine, family history of migraine, and by migraine type. Odds ratios and 95% confidence intervals were calculated. These results suggest that subjects with migraine and RP (perhaps indicative of a systematic vascular tone disorder) and those with menstrual migraine (indicative of sensitivity to hormonal changes) may overall be more sensitive to certain environmental stimuli, particularly those involving change in the internal environment.     

Excretion of ttca in human umne after administration of disulfiram

2-Thiothiazolidine-4-carboxylic acid (TTCA) was measured in urine of two persons given an oral dose of 250 mg disulfiram. Maximum concentrations up to 0.33 mmol $\text{TTCA}\text{mol}$ creatinine were found, 10 to 14 h after dosing. The total amounts of TTCA excreted in urine were 1.8 and 3.5 μmol, respectively, which correspond to 0.2 and 0.41% of the dose.     

A closed inhalation chamber for quantitative metabolism studies of volatile compounds with small laboratory animals

With the inhalation system described an animal can be kept in the same atmosphere of a 2-liter desiccator for up to 24 h. The expired carbon dioxide is adsorbed with soda lime and the resulting reduced pressure is balanced by a supply of oxygen also used for the inflow of the chemical to be investigated. Urine and faeces can be collected separately and the system allows a periodical control of the concentration of the chemical by sampling the air with needle and syringe.