ABSTRACT
BACKGROUND: We report on a large family of Chinese Han individuals with hidrotic ectodermal dysplasia (HED) with a variation in GJB6 (c.31G>A). The patients in the family had a triad of clinical manifestations of varying degrees. Although the same variation locus have been reported, the clinical manifestations of this family were difficult to distinguish from those of congenital thick nail disorder, palmoplantar keratosis, and congenital hypotrichosis. CASE SUMMARY: This investigation involved a large Chinese family of 46 members across five generations and included 12 patients with HED. The proband (IV4) was a male patient with normal sweat gland function and dental development, no skeletal dysplasia, no cognitive disability, and no hearing impairments. His parents were not consanguineously married. Physical examination of the proband revealed thinning hair and thickened grayish-yellow nails and toenails with some longitudinal ridges, in addition to mild bilateral palmoplantar hyperkeratosis. GJB6, GJB2, and GJA1 have been reported to be the causative genes of HED; therefore, we subjected the patient's samples to Sanger sequencing of these three genes. In this family, the variation locus was at GJB6 (c.31G>A, p.Gly11Arg). Overexpression vectors of wild-type GJB6 and its variants were established and transfected into HaCaT cell models, and the related mRNA and protein expression changes were determined using real-time reverse transcriptase-polymerase chain reaction and Western blot, respectively. CONCLUSION: We report another HED phenotype associated with GJB6 variations, which can help clinicians to diagnose HED despite its varying presentations.
ABSTRACT
BACKGROUND: Many ant species can harm humans; however, only a few cause life-threatening allergic reactions. Normally, reactions caused by ants occur in patients who come into contact with ant venom. Venom contains various biologically active peptides and protein components, of which acids and alkaloids tend to cause anaphylaxis. Ant venom can cause both immediate and delayed reactions. The main histopathological changes observed in ant hypersensitivity are eosinophil recruitment and Th2 cytokine production. CASE SUMMARY: A 70-year-old man was bitten by a large number of ants when he was in a drunken stupor and was hospitalized at a local hospital. Five days later, because of severe symptoms, the patient was transferred to our hospital for treatment. Numerous pustules were observed interspersed throughout the body, with itching and pain reported. He had experienced fever, vomiting, hematochezia, mania, soliloquy, sleep disturbances, and elevated levels of myocardial enzymes since the onset of illness. The patient had a history of hypertension for more than 1 year, and his blood pressure was within the normal range after hypotensive drug treatment. He had no other relevant medical history. Based on the clinical history of an ant bite and its clinical manifestations, the patient was diagnosed with an ant venom allergy. The patient was treated with 60 mg methylprednisolone for 2 d, 40 mg methylprednisolone for 3 d, and 20 mg methylprednisolone for 2 d. Oral antihistamines and diazepam were administered for 12 d and 8 d, respectively. Cold compresses were used to treat the swelling during the process. After 12 d of treatment, most pustules became crusts, whereas some had faded away. No symptoms of pain, itching, or psychological disturbances were reported during the follow-up visits within 6 mo. CONCLUSION: This case report emphasizes the dangers of ant stings.
ABSTRACT
Studies have previously documented that microRNAs (miRNAs), with their key roles in regulating both synaptic plasticity and brain development, are candidate genetic contributors to the etiopathology of bipolar disorder (BD). Moreover, miRNA identified as targets for the actions of chronic lithium and VPA are known to play diverse and intriguing roles in brain function. In particular, the brain specific miR-134 has recently been identified as a potential regulator of dendritic spine volume and synapse formation. Recently, circulating miRNAs have been reported as promising biomarkers for various pathologic conditions. We assessed the hypothesis that miRNA-134 may be present and detectable in circulating blood, and that miRNA-134 may serve as a biomarker of mania episodes in BD. In the present study, we recruited 21 bipolar I, manic (DSM-IV) patients and controls matched by sex and age for quantification of miR-134 level in plasma using real-time RT-PCR method. We found that: Plasma miR-134 levels in drug-free, 2-week medicated, and 4-week medicated bipolar mania patients were significantly decreased when compared with controls, and the level was increased on following medication. Decreased circulating miR-134 level both in drug-free and medicated patients did presented negative correlation with the clinical scales. Overall, these results suggest that the decreased plasma miR-134 levels may be directly associated with the pathophysiology and severity of manic symptoms in BD. Plasma miRNA-134 in BD may be considered as a potential peripheral marker that can respond to acute manic episodes and associate with effective mood stabilizers treatment.
