Objective To observe the clinical effect of combination of traditional Chinese and western medicine to treat the hypothyreosis disease, and dosage reduction of thyroid hormone and improvement of thyroid function. Method The patient of hypothyreosis were divided into two groups, 32 cases in treatment group and 30 cases in control group. Both groups were treated with thyroid hormone. The treatment group reduced the dosage of thyroid hormone to high limit in the prerequisite of ensuring the curative effect, and was given the decoction of warming Yang and benefiting Qi, removing stasis and dampness. Then compare the improvement of main clinical symptoms of the two groups, as well as their function of thyroid and side effects of hormone. Result There was no significant difference in total effective rate between two groups, while there was notable diffenrence in excellent effective rate. Compare with the control group, the symptoms of the treatment group were improved obviously and rapidly, the falling extent of the increasing thyroid-stimulating hormone (TSH) was large and quick, so as the enhancing extent of the decreasing T3 and T4, the sid effect of hormone was eradicated. Conclusions To treat the hypothyreosis disease, combination of traditional Chinese and western medicine can improve the symptom quickly, promote the recovery of thyroid function, and get the satisfactory curative effect, even if reduce the dosage of hormone.

OBJECTIVETo analyze the clinical and genetic features of 9 ethnic Han Chinese patients with disseminated superfacial actinic porokeratosis (DSAP).

METHODSGenomic DNA was extracted from peripheral blood samples collected from the patients. PCR and direct sequencing were carried out for five patients from a family, 4 sporadic cases, and 120 healthy controls to identify potential mutations of four genes (MVK, MVD, PMVK, FDPS) involved in the mevalonate pathway as well as SLC17A9, SSH1, and SART3 genes. Pathogenecity of suspected mutations were assessed with SIFT, and Polyphen-2 scores.

RESULTSA c.746T>C mutation was identified in the family and two sporadic cases, while a c.875A>G mutation was identified in another sporadic case. No mutation was identified in the remainder genes among all patients. Scoring has suggested that the c.746T>C and c.875A>G mutations of the MVD gene are probably pathogenic.

CONCLUSIONc.746 T>C and c.875A>G of the MVD gene are most common mutations. Skin rashes of the patients have a strong connection with the sunlight, albeit a significant difference among patients was discovered.

Aged, 80 and over ; Case-Control Studies ; Female ; Humans ; Male ; Middle Aged ; Mutation ; genetics ; Pedigree ; Porokeratosis ; genetics

OBJECTIVETo screen for KIT gene mutations in two Han Chinese pedigrees affected with Piebaldism.

METHODSClinical data of the pedigrees was collected. Genomic DNA was extracted from blood samples collected from the pedigrees and 120 unrelated healthy controls. All coding exons of the KIT gene were subjected to PCR amplification and direct sequencing.

RESULTSTwo missense mutations, c.1861G>A(p.Ala621Thr) and c.1872G>A(p.Met624Ile), were identified respectively in the two pedigrees. Neither mutation was found among healthy members from the respective pedigree and the 120 unrelated healthy controls. c.1872G>A is a novel mutation.

CONCLUSIONMutations of the KIT gene may affect the structure and function of the transmembrane receptor KIT, which lead to the disease.

OBJECTIVETo detect mutations of ATP2A2 gene in a pedigree and a sporadic case with Darier disease (DD) and explore the underlying molecular mechanism.

METHODSClinical data of the pedigree and the sporadic case were collected. Genomic DNA was extracted from blood samples of four members from the pedigree (including three patients and one healthy member), the sporadic case and 100 healthy controls. PCR was performed to amplify all coding exons of the ATP2A2 gene. And the products were directly sequenced to detect mutations.

RESULTSA missense mutation c.1484C>T (p.S495L) in exon 12 was detected in all patients of the pedigree. For the sporadic case, a novel splicing mutation c.325-2A>G was detected at the junction between intron 4 and exon 5. The same mutations were not found in the 100 healthy controls.

CONCLUSIONMutations of the ATP2A2 gene may lead to the occurrence of DD in both familial and sporadic cases with DD.

Aged ; Alternative Splicing ; genetics ; Base Sequence ; Child ; DNA Mutational Analysis ; Darier Disease ; genetics ; Family Health ; Female ; Genetic Predisposition to Disease ; genetics ; Humans ; Male ; Mutation, Missense ; Pedigree ; Point Mutation ; Sarcoplasmic Reticulum Calcium-Transporting ATPases ; genetics