Primary cutaneous amyloidosis (PCA) is an itchy skin disorder associated with amyloid deposits in the superficial dermis. The disease is relatively common in Southeast Asia and South America. Autosomal dominant PCA has been mapped earlier to 5p13.1–q11.2 and two pathogenic missense mutations in the OSMR gene, which encodes the interleukin-6 family cytokine receptor oncostatin M receptor beta (OSMRβ), were reported. Here, we investigated 29 Taiwanese pedigrees with PCA and found that 10 had heterozygous missense mutations in OSMR: p.D647V (one family), p.P694L (six families), and p.K697T (three families). The mutation p.P694L was associated with the same haplotype in five of six families and also detected in two sporadic cases of PCA. Of the other 19 pedigrees that lacked OSMR pathology, 8 mapped to the same locus on chromosome 5, which also contains the genes for 3 other interleukin-6 family cytokine receptors, including interleukin-31 receptor A (IL31RA), which can form a heterodimeric receptor with OSMRβ through interleukin-31 signaling. In one family, we identified a point mutation in the IL31RA gene, c.1562C>T that results in a missense mutation, p.S521F, which is also sited within a fibronectin type III-like repeat domain as observed in the OSMR mutations. PCA is a genetically heterogeneous disorder but our study shows that it can be caused by mutations in two biologically associated cytokine receptor genes located on chromosome 5. The identification of OSMR and IL31RA gene pathology provides an explanation of the high prevalence of PCA in Taiwan as well as new insight into disease pathophysiology.

Background

Hydrocephalus following spontaneous aneurysmal sub-arachnoid hemorrhage (SAH) is often associated with unfavorable outcome. This study aimed to determine the potential risk factors and outcomes of shunt-dependent hydrocephalus in aneurysmal SAH patients but without hydrocephalus upon arrival at the hospital.

Methods

One hundred and sixty-eight aneurysmal SAH patients were evaluated. Using functional scores, those without hydrocephalus upon arrival at the hospital were compared to those already with hydrocephalus on admission, those who developed it during hospitalization, and those who did not develop it throughout their hospital stay. The Glasgow Coma Score, modified Fisher SAH grade, and World Federation of Neurosurgical Societies grade were determined at the emergency room. Therapeutic outcomes immediately after discharge and 18 months after were assessed using the Glasgow Outcome Score.

Results

Hydrocephalus accounted for 61.9% (104/168) of all episodes, including 82 with initial hydrocephalus on admission and 22 with subsequent hydrocephalus. Both the presence of intra-ventricular hemorrhage on admission and post-operative intra-cerebral hemorrhage were independently associated with shunt-dependent hydrocephalus in patients without hydrocephalus on admission. After a minimum 1.5 years of follow-up, the mean Glasgow outcome score was 3.33 ± 1.40 for patients with shunt-dependent hydrocephalus and 4.21 ± 1.19 for those without.

Conclusions

The presence of intra-ventricular hemorrhage, lower mean Glasgow Coma Scale score, and higher mean scores of the modified Fisher SAH and World Federation of Neurosurgical grading on admission imply risk of shunt-dependent hydrocephalus in patients without initial hydrocephalus. These patients have worse short- and long-term outcomes and longer hospitalization.

Background

Q-Sweat is a model used for evaluating the post-ganglionic sudomotor function by assessing sweat response. This study aimed to establish the normative database of Q-Sweat test among Chinese individuals since this type of information is currently lacking.

Results

One hundred and fifty (150) healthy volunteers, 76 men and 74 women with age range of 22–76 years were included. Skin temperature and sweat onset latency measured at the four sites (i.e., the forearm, proximal leg, distal leg, and the foot) did not significantly correlate with age, gender, body height (BH), body weight (BW), and body mass index (BMI) but the total sweat volume measured in all four sites significantly correlated with sex, BH, and BW. Except for the distal leg, the total sweat volume measured at the other three sites had a significant correlation with BMI. In terms of gender, men had larger total sweat volume, with median differences at the forearm, proximal leg, distal leg, and foot of 0.591 μl, 0.693 μl, 0.696 μl, and 0.358 μl, respectively. Regarding BW difference (≥62 and < 62 Kg), those with BW ≥62 Kg had larger total sweat volume. Median differences at the forearm, proximal leg, distal leg, and foot were 0.538 μl, 0.744 μl, 0.695 μl, and 0.338 μl, respectively. There was an uneven distribution of male and female participants in the two BW groups. In all conditions, the total sweat volume recorded at the foot site was the smallest.

Conclusion

This is the first report to show the normative database of sweat response in Chinese participants evaluated using Q-Sweat device. This normative database can help guide further research on post-ganglionic sudomotor or related clinical practice involving a Chinese population.