Objective:To detect pathogenic gene mutations in a patient with CARD14-associated papulosquamous eruption (CAPE) and his family, and to evaluate the short-term and long-term efficacy and safety of ustekinumab treatment.Methods:Clinical data were collected from a 6-year-old child presenting with erythroderma secondary to pityriasis rubra pilaris and from his family members. Peripheral blood samples were collected from the patient, his parents and younger brother, and DNA was extracted from these peripheral blood samples. A next-generation skin-targeted sequencing panel was used to detect gene mutations, and Sanger sequencing was performed for verification. Genomic DNA was also extracted from 100 unrelated healthy controls using the same method.Results:A heterozygous mutation c.349+1G>A in intron 6 of the CARD14 gene was identified in the proband and his mother, but was not identified in his father, younger brother or 100 healthy controls, leading to a diagnosis of CAPE in the proband. The patient received subcutaneous injections of ustekinumab at a dose of 45 mg at weeks 0 and 4, and every 12 weeks thereafter. After 1-week treatment, the skin lesions and symptoms improved markedly. No adverse events were reported during the 18-month treatment and follow-up.Conclusion:The heterozygous mutation c.349+1G>A in the CARD14 gene may be the cause of the disease in this family, and ustekinumab was effective and safe for the treatment of CAPE.

Objective:To detect pathogenic gene mutations in a patient with CARD14-associated papulosquamous eruption (CAPE) and his family, and to evaluate the short-term and long-term efficacy and safety of ustekinumab treatment.Methods:Clinical data were collected from a 6-year-old child presenting with erythroderma secondary to pityriasis rubra pilaris and from his family members. Peripheral blood samples were collected from the patient, his parents and younger brother, and DNA was extracted from these peripheral blood samples. A next-generation skin-targeted sequencing panel was used to detect gene mutations, and Sanger sequencing was performed for verification. Genomic DNA was also extracted from 100 unrelated healthy controls using the same method.Results:A heterozygous mutation c.349+1G>A in intron 6 of the CARD14 gene was identified in the proband and his mother, but was not identified in his father, younger brother or 100 healthy controls, leading to a diagnosis of CAPE in the proband. The patient received subcutaneous injections of ustekinumab at a dose of 45 mg at weeks 0 and 4, and every 12 weeks thereafter. After 1-week treatment, the skin lesions and symptoms improved markedly. No adverse events were reported during the 18-month treatment and follow-up.Conclusion:The heterozygous mutation c.349+1G>A in the CARD14 gene may be the cause of the disease in this family, and ustekinumab was effective and safe for the treatment of CAPE.

Objective: To identify the type and origin of ATP7B gene mutation in a family affected with Wilson disease by combined use of multiple methods. Methods: Peripheral blood samples were collected from the proband, her parents and her brother. Sanger sequencing were used to detect point mutation and small deletion/insertion of the 21 exons and flanking sequences of the ATP7B gene in all family members. Array-based comparative genomic hybridization (aCGH) was performed to identify copy number variations (CNVs) of the ATP7B gene in the proband. The result was validated by quantitative PCR (qPCR) in other 3 members. Results: Sanger sequencing indicated that the proband carried a heterozygous variation c. 2668G>A (p.V890M) derived from her mother. In addition, 5 common SNPs were detected in her mother, three of which were also identified in her father and brother. The 5 SNPs in the proband were of the wide type. aCGH analysis demonstrated that the proband was heterozygous for a 4 kb deletion, which encompassed exons 2 and 3 of the ATP7B gene and 2 SNPs. qPCR showed that the copy number in her father and brother was about half of the control, indicating heterozygous loss of exons 2 and 3. Conclusion The combined Sanger sequencing, array CGH and qPCR has identified a novel CNV involving the ATP7B gene. The strategy can improve the diagnostic rate for hereditary or rare diseases.

Melkersson-Rosenthal syndrome (MRS) is an uncommon granulomatous disease characterized by the triad of relapsing facial paralysis, orofacial swelling, and fissured tongue. Genital swelling in MRS is rarely reported. We presented the first case of complete MRS with genital swelling in a child. Biopsy examinations of both the child's lower lip and penis showed noncaseating granuloma and intralymphatic granuloma infiltration. No symptoms or signs of other systemic disease (Crohn's disease or sarcoidosis) were observed after 2 years of follow-up. Genetic screening for CARD15/NOD2 in this patient showed negative, which further confirmed the diagnosis of MRS. Eleven other cases of suspected complete or incomplete MRS with genitalia involved were reviewed. Our case emphasizes the specific clinical feature of MRS with genitalia involved, which was genetically different from Crohn's disease and could be an independent entity. Lymphatic obstruction is responsible for localized edema in MRS.
Biopsy ; Child* ; Crohn Disease ; Diagnosis ; Edema ; Facial Paralysis ; Follow-Up Studies ; Genetic Testing ; Genitalia* ; Granuloma ; Humans ; Lip ; Lymphatic Vessels ; Male* ; Melkersson-Rosenthal Syndrome* ; Penis ; Tongue, Fissured

Melkersson-Rosenthal syndrome (MRS) is an uncommon granulomatous disease characterized by the triad of relapsing facial paralysis, orofacial swelling, and fissured tongue. Genital swelling in MRS is rarely reported. We presented the first case of complete MRS with genital swelling in a child. Biopsy examinations of both the child's lower lip and penis showed noncaseating granuloma and intralymphatic granuloma infiltration. No symptoms or signs of other systemic disease (Crohn's disease or sarcoidosis) were observed after 2 years of follow-up. Genetic screening for CARD15/NOD2 in this patient showed negative, which further confirmed the diagnosis of MRS. Eleven other cases of suspected complete or incomplete MRS with genitalia involved were reviewed. Our case emphasizes the specific clinical feature of MRS with genitalia involved, which was genetically different from Crohn's disease and could be an independent entity. Lymphatic obstruction is responsible for localized edema in MRS.
Biopsy ; Child* ; Crohn Disease ; Diagnosis ; Edema ; Facial Paralysis ; Follow-Up Studies ; Genetic Testing ; Genitalia* ; Granuloma ; Humans ; Lip ; Lymphatic Vessels ; Male* ; Melkersson-Rosenthal Syndrome* ; Penis ; Tongue, Fissured

Objective To evaluate the treatment of rehabilitation nursing for facial deep Ⅱdegree and administer clinical observation .Methods A total of 90 patients with facial deep Ⅱ degree burn whose wound healed after 1 month and admitted in Department of Burn and Plastic surgery , the First Affiliated Hospital of PLA General Hospital between December 2008 and December 2013 were chosen and assigned into 3 groups (control group, observation group 1, and observation group 2) by random number table, 30 cases respectively. Patients in the control group received routine skin rehabilitation nursing , using herbal ion spray machine with massage.On the basis of control group , observation group 1 wore elastic sleeve;observation group 2 underwent comprehensive rehabilitation therapy , which included more treatment frequency , placing plastic splint and pressure pad, and local cryotherapy .Scar recovery degree before rehabilitation nursing , 3 months and 6 months after rehabilitation nursing were compared of 3 groups.Results After 3 months′rehabilitation nursing , scare classification and score had no difference in the 3 groups(P>0.05).Compared with the control group , score of observation group 1 and observation group 2 had no siglnificant differences(P>0.05).After 6 months, scores of scar of observation group 2 with a 100%cure rate were different from those of control group and observation group 1(P<0.01).Observation group 1 had siglnificant no difference from those of control group (P>0.05). Conclusions Comprehensive rehabilitation nursing is an important method for prevention and treatment of deepⅡdegree facial burn scar , which is worthy of clinical promotion .

Objective To compare the genotype distribution of HPV in cervical cells of natural crowd and tissues of cervical in‐traepithelial neoplasia(CINⅢ grade) and cervical carcinomas patients .Methods PCR and gene‐chip technology were utilized for the genotype detection of 23 kinds of HPV in cell specimens from 1 047 women of natural crowd (normal group) and tissue specimens from 173 cases of cervical intraepithelial neoplasia(precancerosis group) and 133 cases of patients with cervical carcinoma (cervical carcinoma group) .Results There were 109 ,159 and 121 cases of HPV positive specimens respectively in normal group ,precancer‐osis group and cervical carcinoma group ,and the HPV infection rates were 10 .41% (109/1 047) ,91 .91% (159/173) and 90 .98%(121/133) ,respectively .Conclusion PCR and gene‐chip technology can be used to detect HPV genotypes in cervical cells and cer‐vical tissues specimens .

AIM: Valproic acid (VPA) is a histone deacetylase inhibitor and is believed to have anti-tumor activity. The present study aims to investigate the effect of VPA on the, apoptosis and cytokine synthesis of human peripheral lymphocytes. METHODS: The activation and cytokine synthesis in lymphocytes in whole blood stimulated with phorbol dibutyrate (PDB) and ionomycin were evaluated with flow cytometry after fluorescent staining. The mitochondrial membrane potential was examined using 3, 3-dihexyloxacarbocyanine iodide [DiOC6(3)]staining. RESULTS: VPA at low doses (1 and 5 mmol/L) promoted CD69 expression in activated lymphocytes, whereas it turned to inhibit the expression of CD69 at a high dose (25 mmol/L). Meanwhile, VPA at low doses increased the mitochondrial membrane potential, while a high dose of VPA decreased it in activated lymphocytes. Furthermore, interleukin-2 (IL-2) synthesis was enhanced by low doses of VPA but inhibited by a high dose. However, interferon-γ (IFN-γ) and tumor necrosis factor-α (TNF-α) synthesis were dose-dependently enhanced by VPA as compared with those of PDB plus ionomycin-treated cells. CONCLUSION: VPA exerts biphasic effect on the further activation and apoptosis of human peripheral lymphocytes stimulated with mitogens and exhibits differential activity on the synthesis of several important cytokines in human lymphocytes.