No abstract available.
Chromosomes, Human, Pair 13 ; Vitiligo*

Mosaic trisomy 13 is estimated to occur in 5% of all trisomy 13 cases. Presentation of trisomy 13 mosaicism is highly variable, with cases that may present with a normal phenotype and intellectual function, to cases with grossly abnormal features and profound developmental delays. We present a 2-year-old female with trisomy 13 mosaicism, who presented with small for gestational age (SGA), polydactyly, ventricular septal defect (VSD), and poor oral feeding.
Trisomy 13 Syndrome ; Genetic Counseling

Epidermal nevus syndromes (ENS) are a group of complex disorders characterized by the presence of epidermal hamartomas in association with extracutaneous manifestations involving numerous organ systems. The diseases included within the spectrum of ENS are quite rare and specific molecular defects have been elucidated in only a few cases. An epidermal nevus syndrome with a mutation of the ZMYM2 gene has not been reported to the best of our knowledge.

This is a case of a 17-year-old female who presented at birth with prominent skeletal deformities and multiple erythematous verrucous papules and plaques in a blaschkoid distribution on the back and extremities, increasing in size and number as the patient grew. The patient was also noted to have delayed gross motor and speech milestones as well as marked mixed hearing loss on both ears. Histologic findings of the skin lesions were consistent with Verrucous Epidermal Nevus. Further imaging workups revealed the presence of bilateral diminutive kidneys. Whole exome sequencing by orthogonal method (Sanger sequencing) was performed revealing a likely pathogenic variant of the ZMYM2 gene, a gene which as of writing, has not been associated with any epidermal nevus syndrome.

We provide the first evidence of the possibility of involvement of the gene ZMYM2 in ENS. Considering the detected variant does not fully explain the patient’s phenotype, proceeding to genome sequencing and performing targeted testing by next generation sequencing on the affected tissue to assess the mosaicism of the detected variant is highly considered.

Asthma is a chronic allergic inflammatory disease of lung. The initiation and progression of asthma is dependent on the cytokines interleukin (IL) -4 and IL-13 acting through related receptor complexes. Disease pathogenesis is effected by intracellular signaling pathways that couple primarily to specific motifs within the intracellular domain of the IL-4 receptor alpha chain (IL-4R alpha), a subunit that is common to the IL-4 and IL-13 receptor complexes. Neutralizing anti-cytokine strategies have proven to be highly successful on dissecting relevant effector pathways in experimental allergic disease, and are now entering clinical trials in human allergic disorders. Although there have been only a few clinical studies on the effects of cytokine modulators in asthma, this line of research and development appears promising.
Asthma* ; Cytokines ; Humans ; Interleukin-13 ; Interleukin-4 ; Interleukins ; Lung ; Receptors, Interleukin-13 ; Receptors, Interleukin-4

Chromosome Disorders ; Chromosomes, Human, Pair 13 ; Humans ; Infant ; Male ; Trisomy ; Trisomy 13 Syndrome

Chronic spontaneous urticaria (CSU) is a complex idiopathic disease of the skin with various cellular infiltrations. Although mast cells are key effector cells in the pathogenesis of CSU, CD4+ T helper 2 cells also have particular roles in the development and maintenance of CSU. Periostin is known as a downstream molecule of interleukin (IL)-4 and IL-13, key cytokines of type 2 immune responses. In this study, we examined periostin and IL-13 levels in the sera of patients with CSU (n=84) and healthy normal controls (NCs, n=43). Periostin levels were significantly lower in the CSU group than in NCs (71.4±21.8 vs 85.1±22.4 ng/mL, P=0.04). Periostin levels were also lower in the severe CSU group than those in mild CSU (59.7±18.0 vs 73.4±22.0 ng/mL, P=0.04). However, IL-13 levels were significantly higher in patients with CSU than in NCs (508.5±51.2 vs 200.7±13.3 pg/mL, P=0.001). In conclusion, periostin and IL-13 may be independently related to the pathogenesis of CSU.
Cytokines ; Humans ; Interleukin-13* ; Interleukins ; Mast Cells ; Skin ; Urticaria*

T helper-type 2 cytokines, such as IL-4 and IL-13, may play a central role in allergic diseases. The protein known as signal transducers and activators of transcription 6 (STAT6) is a key transcription factor involved in both IL-4- and -13-mediated biological responses. Two polymorphisms of the STAT 6 gene (exon 1 and G2964A variant) have been found. We investigated whether these STAT6 gene polymorphisms were associated with allergic rhinitis. Blood samples for genetic analysis were obtained from 285 individuals with allergic rhinitis and from 271 healthy subjects without atopic disease. The G2964A variant of the STAT6 gene was genotyped using PCR-RFLP analysis. The GT repeat polymorphism in exon 1 of the STAT6 gene was genotyped by fragment analysis. There was no association between the 2964A variant and GT repeat polymorphism in exon 1 of the STAT6 and allergic rhinitis in a Korean population (both p > 0.05). Our results suggest that a combination of STAT6 gene polymorphisms is not a useful marker for predicting allergic rhinitis.
Cytokines ; Exons ; Interleukin-13 ; Interleukin-4 ; Rhinitis* ; Transcription Factors ; Transducers

Chromosomes, Human, Pair 13 ; Female ; Humans ; Infant, Newborn ; Trisomy ; genetics

OBJECTIVE: To discuss a case of congenital muscular torticollis and its presentation, pathophysiology and management. 

METHODS:

                    Design: Case Report

                    Setting: Tertiary Private Hospital

                    Patient: One

RESULTS: An 11-year-old girl presented with tilting of head to the right and progressive limitation of head movement since infancy. MRI showed a shortened right sternocleidomastoid muscle. The patient underwent surgical release of torticollis. Full range of motion of the neck was achieved after the surgical management.

CONCLUSION: Congenital torticollis is a rare condition of the head and neck region. Physicians should be familiar with this entity and its presentation and it should be considered in the differential diagnosis of patients with progressive limitation of head movement in order to initiate early treatment and avoid progressive physical deformity.

KEYWORDS: congenital muscular torticollis; familial spasmodic torticollis

Consequently, abstinence only programs may not be enough to lower the risk of sexually transmitted illnesses (STIs), such as the Human Immunodeficiency Virus-Acquired Immune Deficiency Syndrome (HIV AIDS). Paradoxically, in another study, it was shown that the more strongly abstinence was emphasized by the law, the higher the average teenage pregnancy and birth rates were.2 In fact, the same study concluded that while abstinence-only programs were not successful, areas that taught comprehensive sex and/or HIV education and covered abstinence along with contraception and condom access tended to be more successful, and had the lowest teen pregnancy rates. (see full-text for continuation)