Membranous aplasia cutis congenita: A rare case report highlighting clinical presentation, genetic insights, and the need for comprehensive evaluation.

Introduction: Membranous aplasia cutis congenita (MACC) is the most common clinical subtype of aplasia cutis congenita (ACC). It is typified by a localized skin lesion devoid of hair and features a membranous surface. While most MACC individuals do not present with concurrent abnormalities, it can sometimes co-occur with additional physical anomalies and various malformation syndromes. Moreover, the underlying causes of MACC remain elusive. Case presentation: We describe a case of a 6-month-old female infant diagnosed with MACC. The patient presented with a midline skin lesion on the occipital scalp, characterized by a glistening surface and a hair collar sign. Dermoscopic examination revealed specific features, including translucency, telangiectasia, and hypertrichosis. The infant had a history of patent foramen ovale, and further examination uncovered an asymptomatic ventricular septal defect. Whole exome sequencing revealed 20 gene variants relevant to the clinical phenotype of the patient, suggesting a possible association with MACC. Conclusion: MACC is a rare and underreported condition, primarily diagnosed based on its distinctive clinical features. It is imperative to emphasize the significance of thorough evaluations in MACC patients, encompassing developmental, cardiac, neurological, and genetic assessments to facilitate early detection and the exclusion of potentially life-threatening comorbidities. Importantly, genetic characterization, as demonstrated in this case, contributes to our understanding of MACC's etiology and highlights the need for further research in this field.

Cytotoxic triterpene saponins from Clematis mandshurica.

Two new triterpene saponins, mandshunosides A and B (1 and 2), were isolated from the roots and rhizomes of Clematis mandshurica. Their structures were elucidated on the basis of spectroscopic evidence and hydrolysis products. Compounds 1 and 2 showed inhibitory activities against two colorectal human cancer cells HCT 116 (IC50 2.1 µM for 1 and 2.5 µM for 2) and HT-29 (IC50 3.7 µM for 1 and 3.3 µM for 2).

[Determination of citrinin in red kojic by HPCE].

OBJECTIVE: To establish an instant determination method of citrinin in red kojic by high performance capillary electrophorphores for the first time. METHOD: Red kojic was extracted with the mixtrue of Toluene and ethyl acetate (70:30). Separation was carried out in an uncoated fused silica capillary (50 microm x 45.0 cm). Meanwhile, a running voltage 15 kV, 20 mmol L(-1) borax buffer with 10.0 mmol L(-1) sodium deoxycholate (pH 9.3) and a UV detector at 212 nm were adopted. RESULT: Regression equation of citrinin was Y=9434 + 16781X (r =0.990), The lower limit of quantification (S/N > or =3) was 0.5 mg mL(-1). The assay coefficients of variation ranged from 98.8% to 101.1%. The intra and inter recovery ranged from 0.83 to 1.54% and from 1.86 to 5.09%. Twenty samples were determined with the method. CONCLUSION: The method is proved to be simple, rapid and accurate, and it can be used to determine citrinin in red kojic.

[The experiment study on RNAi inhibiting the expression of survivin and inducing the apoptosis of pancreatic cancer cells].

OBJECTIVE: To investigate the inhibitory effects of RNAi expression vector suppressing the expression of survivin and inducing the apoptosis of pancreatic cancer cell PANC-1. METHODS: The expression of survivin was examined with RT-PCR and immunofluorescence protocols. The survivin gene was cloned into the T-vector and sequenced, at the same time, the RNAi expression vectors aimed survivin were successfully constructed, and then transfected into PANC-1 cells with liposomes. The expression of survivin mRNA was detected with RT-PCR and Western-blot techniques. The rate of cell apoptosis was measured with FACS. RESULTS: There was a high degree expression of survivin in PANC-1 cells. The DNA sequence was according with the survivin gene in GENE BANK. The survivin expression was inhibited about 70% by pTZU6 + 1-svv2 RNAi expression vectors, and the apoptosis cells increased. CONCLUSION: The RNAi expression vector can effectively inhibit the survivin expression and induce the apoptosis in PANC-1 cells.

[Synthesis of phenyloxyisobutyric acid derivatives and their antidiabetic activity in vitro].

AIM: To design and synthesize new phenyloxyisobutyric acid analogues as antidiabetic compounds. METHODS: Eight new target compounds were synthesized by combination of lipophilic moieties and acidic moiety with nucleophilic replacement or Mitsunobu condensation. The eight compounds were confirmed by 1H NMR, 13C NMR, IR and MS. RESULTS: In vitro insulin-sensitizing activity (3T3-L1 adipocyte) demonstrated, that the cultured glucose concentration of up-clear solution detected with GOD-POD assay were 5.942, 6.339, 6.226 and 6.512 mmol x L(-1), respectively, when rosiglitazone, pioglitazone, compounds A and B were added to the insulin-resistant system. CONCLUSION: In vitro insulin-sensitizing activity of target compound A is in between that of rosiglitazone and pioglitazone, and activity of target compound B is slightly less than that of pioglitazone.

[Design, synthesis and insulin-sensitizing activity of some peroxisome proliferator-activated gamma agonists].

AIM: To find new peroxisome proliferator-activated y agonists with high activity and low toxicity. METHODS: Based on JTT-501 and JTT-20993, new isoxazolidine-3,5-dione and noncyclic 1,3-dicarbonyl compounds were designed and synthesized. Their insulin-sensitizing activities were evaluated. RESULTS: Eight new compounds were obtained. The structures of synthesized compounds were characterized by NMR, MS and IR. Four compounds (1A-4A) showed insulin-sensitizing activities. CONCLUSION: Compounds (1A and 3A) showed excellent insulin-sensitizing activities and should be worth further investigation.