Holocarboxylase synthetase deficiency induced by HLCS gene mutations: a rare disease study / 中国当代儿科杂志

A boy, aged 16 months, attended the hospital due to head and facial erythema for 15 months and vulva erythema for 10 months with aggravation for 5 days. The boy developed perioral and periocular erythema in the neonatal period and had erythema and papules with desquamation and erosion in the neck, armpit, and trigone of vulva in infancy. Blood gas analysis showed metabolic acidosis; the analysis of amino acid and acylcarnitine profiles for inherited metabolic diseases and the analysis of organic acid in urine suggested multiple carboxylase deficiency; genetic testing showed a homozygous mutation of c.1522C>T(p.R508W) in the HLCS gene. Finally the boy was diagnosed with holocarboxylase synthetase deficiency and achieved a good clinical outcome after oral biotin treatment. This article analyzes the clinical data of a child with holocarboxylase synthetase deficiency and summarizes the etiology, diagnosis, and treatment of this child, so as to provide ideas for clinicians to diagnose this rare disease.

Recurrent vulvar rashes in a girl aged 22 months for more than half a year / 中国当代儿科杂志

A girl, aged 22 months, attended the hospital due to recurrent vulvar rashes for more than half a year. Skin biopsy showed Langerhans cell histiocytosis, and evaluation of systemic conditions showed no systemic involvement. Therefore, the girl was diagnosed with Langerhans cell histiocytosis (skin type). In conclusion, for rashes on the vulva alone, if there are no specific clinical manifestations, the possibility of Langerhans cell histiocytosis should be considered after molluscum contagiosum, sexually transmitted diseases, and Fordyce disease are excluded.

Recurrent skin blisters for more than 7 months in a girl aged 15 months / 中国当代儿科杂志

A girl, aged 15 months, attended the hospital due to recurrent skin erythema, blisters, and desquamation for more than 7 months. Giemsa staining and immunohistochemical staining showed mast cell infiltration and degranulation. Hematoxylin staining showed spinous layer edema and blister formation under the epidermis, with a large amount of serous fluid and a small number of inflammatory cells in the blister. Marked edema was observed in the dermis, with diffused mononuclear cell infiltration. The girl was diagnosed with mastocytosis. Mastocytosis should be considered for children with recurrent skin erythema and blisters.

Unexpected cutaneous purpura in an infant / 中国当代儿科杂志

A two-month-old boy visited the hospital due to unexpected cutaneous purpura and thrombocytopenia for 2 days. The physical examination revealed a purple mass on the back. The soft tissue color Doppler ultrasound showed rich blood signals in the tissue, and the results of bone marrow puncture indicated an increased number of megakaryocytes. After the treatment with hormone and gamma globulin, the platelet count rapidly increased and maintained at a normal level. Meanwhile, the boy was given oral administration of propranolol. He was followed up for 4 months and the volume of the mass on the back was reduced significantly. He had a definite diagnosis of hemangioma and immune thrombocytopenia. As for the patients with hemangioma complicated by thrombocytopenia, knowledge of Kasabach-Merritt syndrome should be enhanced and there should be a clarification of the association between thrombocytopenia and hemangioma. There should also be an alertness for thrombocytopenia of other causes.

Investigation of allergens in 3,504 children with allergic diseases / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the allergens of various allergic diseases in children.</p><p><b>METHODS</b>Serum levels of Fx5E, Phadiatop and specific IgE were measured by the UniCAP100 System in 3 504 children with allergic diseases.</p><p><b>RESULTS</b>The positive rate of aeroallergens was obviously higher than that of food allergens in children with allergic rhinitis, allergic conjunctivitis, asthma and papular urticaria. In contrast, the positive rate of food allergens was obviously higher than that of aeroallergens in children with Henoch-Schonlein purpura and digestive diseases. The serum specific IgE level of aeroallergens was higher than that of food allergens. The dust and mite specific IgE levels reached to grade 6, while the food allergen specific IgE levels were lower than grade 3.</p><p><b>CONCLUSIONS</b>Aaeroallergens or food allergens vary remarkably in different allergic diseases in children. The level of specific IgE of aeroallergens is higher than that of food allergens.</p>

Detection of serum specific IgE in 437 children with allergic disease / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the distribution of allergens in children with allergic disease in Changsha.</p><p><b>METHODS</b>Total IgE and specific IgE against some allergens were examined by the AllergyScreen system in the sera of 437 children from Changsha with allergic disease.</p><p><b>RESULTS</b>The positive rates of total IgE and special IgE were 68.9% and 69.1% respectively. Dermatophagoides farina, beef, mutton, milk and fur of cats and dogs were found as common allergens. The IgE positive rate against dermatophagoides farina was the highest in children with allergic rhinitis (86.0%), followed by in those with atopic dermatitis (41.2%), eczema (27.6%) and urticaria (20.0%). Serum IgE was positive against the fur of cats and dogs in 23.5% of children with atopic dermatitis and in 18.1% of children with eczema. The IgE positive rate was lower in children with urticaria and allergic rhinitis (10.0% and 8.7% respectively). IgE positive rates against milk, beef and mutton were high in the above four allergic diseases (range: 14.0%-24.0%), but no significant differences were observed for the IgE positive rate among the four allergic diseases. The IgE positive rate to inhalant allergens in children at ages of less than 3 years was markedly higher than that in children at ages of more than 3 years (p<0.01).</p><p><b>CONCLUSIONS</b>Allergic diseases are mainly mediated by allergens. Allergens, especially dermatophagoides farina, fur of cats and dogs, beef, mutton and milk, play an important role in childhood allergic diseases in Changsha.</p>

Expression of blood Toll-like receptors and cytokines in children with recurrent herpes simplex / 中国当代儿科杂志

<p><b>OBJECTIVE</b>This study examined the expression of Toll-like receptors (TLR) in peripheral blood mononuclear cells (PBMC) and serum levels of IL-6, IL-10 and TNF-alpha in children with recurrent herpes simplex, in order to investigate the role of TLR2 and TLR9 in recurrent herpes simplex.</p><p><b>METHODS</b>The expression of TLR2 and TLR9 in PBMC was examined by flow cytometer, and serum levels of IL-6, IL-10 and TNF-alpha were detected using ELISA in 22 children with recurrent herpes simplex and in 13 age-matched healthy volunteers.</p><p><b>RESULTS</b>The expression of both TLR2 and TLR9 obviously increased in children with recurrent herpes simplex compared with that in healthy controls (p<0.01). Serum levels of IL-6 and IL-10 increased, while serum TNF-alpha levels decreased significantly in children with recurrent herpes simplex compared with those in healthy controls (p<0.01). There were positive correlations between TLR2 and TLR9 expression and serum IL-6 and IL-10 levels in children with recurrent herpes simplex (p<0.01).</p><p><b>CONCLUSIONS</b>TLR2 and TLR9 in PBMC may participate in the recognition of herpes simplex virus and activate the signal pathway of TLR in children with recurrent herpes simplex. The production and release of IL-6 and IL-10 might be mediated by TLR2 and TLR9.</p>

Application of MiniFiler kit in forensic DNA testing of low copy number template / 法医学杂志

OBJECTIVE@#To detect low copy number of DNA samples by using a newly launched commercial miniSTR detection kit (MiniFiler) in forensic practice.@*METHODS@#Low concentration and/or challenged forensic DNA samples were analyzed according to protocols provided by the manufacturer (Applied Biosystems, Foster City, USA).@*RESULTS@#DNA samples as low as 10 pg could be amplified by MiniFiler kit, and the optimal DNA quantity was 40 pg or above.@*CONCLUSION@#MiniFiler kit can be used for analysis of low copy number STR.

Twenty Y-STR locus multiplex amplification and genetic polymorphism analysis in Han population in Chaoshan area / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study genetic polymorphisms of 20 Y-chromosomal short tandem repeats (STR) in Chaoshan Han population, and to evaluate their value in forensic science.</p><p><b>METHODS</b>Twenty Y-specific STR loci (DYS434, Y-GATA-A10, Y-GATA-H4, DYS438, DYS439, DYS443, DYS444, DYS446, DYS447, DYS448, DYS456, DYS458, DYS460, DYS520, DYS531, DYS557, DYS622, DYS630, DYS635 and DYS709) were amplified by using three fluorescence-labeled multiplex PCR systems and were analyzed by ABI310 genetic analyzer. One hundred and fifty-eight unrelated male individuals of Han population in Chaoshan area were investigated to determine the distribution of allele frequencies and haplotype.</p><p><b>RESULTS</b>The Y-STR multiplexes developed had followed the published nomenclature and ISFG guidelines for STR analysis. Gene diversity ranged from 0.2506 at DYS434 to 0.8034 at DYS447. A total of 157 different haplotypes were observed, and among these, 156 were unique, while 1 was found for two times. The haplotype diversity value calculated from all 20 loci combined was 0.999998. None of Y-STR allele mutation was observed in the 30 father/ son pairs confirmed by autosomal STR analysis.</p><p><b>CONCLUSION</b>The results indicate that the 20 Y-STR loci are highly polymorphic and fathership genealogy inheritance are stable. The three fluorescence-labeled multiplex amplification systems that we constructed are suitable for forensic individual identification and paternity testing in Chaoshan area.</p>

Serologic examination for childhood herpes simplex virus infection / 中国当代儿科杂志

<p><b>OBJECTIVE</b>This study was designed to investigate the value of serologic examination in the diagnosis of childhood herpes simplex virus (HSV) infection.</p><p><b>METHODS</b>Serum samples were collected from 2 436 outpatients and inpatients. The samples were divided into two groups. Group 1 consisted of 321 samples which were assayed for HSV-1 IgG, HSV-1 IgM, HSV-2 IgG or HSV-2 IgM antibody using herpes simplex virus antibody kits between January 2003 and November 2005. Group 2 consisted of 2115 samples which were assayed for HSV-2 IgG and IgM antibodies by TORCH testing between October 2004 and November 2005.</p><p><b>RESULTS</b>In Group 1, the total seroprevalence of HSV infection was 44.6%, with 38.9% being HSV-1 positive and 15.9% HSV-2 positive; HSV-IgM positivity was found in 41.1% and 25.5% were HSV-IgG positive; HSV-1 seroprevalence significantly increased with age (P < 0.05). In Group 2 the seroprevalence of HSV-2 infection was 1.9%; all of the samples were HSV-2 IgG positive.</p><p><b>CONCLUSIONS</b>HSV serologic examination is useful in the diagnosis of HSV infection in children.</p>