3-Chloro-4-fluoro-anilinium picrate.

In the title picrate salt of a dihalogenated aniline derivative, C(6)H(6)ClF(+)·C(6)H(2)N(3)O(7) (-), the intra-cyclic C-C-C angles in the picrate anion cover a broad range [111.95 (12)-125.38 (13)°], while those in the aromatic cation span a much narrower range [118.

Effect of spinal deformity on adolescent quality of life: comparison of operative scheuermann kyphosis, adolescent idiopathic scoliosis, and normal controls.

Study Design: A prospective multicenter study and retrospective chart review.

Objective: To compare health-related quality of life (HRQOL) measures and sagittal deformity in operative Scheuermann kyphosis (SK), operative adolescent idiopathic scoliosis (AIS), and normal populations.

Summary Of Background Data: No study to date has evaluated patient reported HRQOL measures before surgery in operative patients with SK.

Androgenetic alopecia: identification of four genetic risk loci and evidence for the contribution of WNT signaling to its etiology.

The pathogenesis of androgenetic alopecia (AGA, male-pattern baldness) is driven by androgens, and genetic predisposition is the major prerequisite. Candidate gene and genome-wide association studies have reported that single-nucleotide polymorphisms (SNPs) at eight different genomic loci are associated with AGA development. However, a significant fraction of the overall heritable risk still awaits identification.

A multicenter analysis of factors associated with change in height after adolescent idiopathic scoliosis deformity surgery in 447 patients.

Object: In the surgical management of adolescent idiopathic scoliosis (AIS), patients are often preoperatively informed that they will gain height as a result of their surgery. However, current estimations conflict significantly and do not have any clinical correlation. The authors developed a formula that would predict postoperative gains in height after deformity correction in AIS.

[Sagittal balance and compensatory mechanism after segmental instrumentation for adolescent idiopathic scoliosis].

Purpose: Previous studies have demonstrated good ability to improve the sagittal profile with the use of segmental instrumentation for adolescent idiopathic scoliosis (AIS) by analysing the sagittal vertical axis (SVA). However, several authors recommend analysing the spinopelvic relation in addition to the SVA. While compensatory mechanisms may neutralise a positive SVA, these mechanisms are energy consuming and may lead to unphysiological biomechanics, which can negatively influence the quality of life.

Ethyl (Z)-3-(4-methyl-anilino)-2-[(4-methyl-phen-yl)carbamo-yl]prop-2-enoate.

The title compound, C(20)H(22)N(2)O(3), is a secondary amine featuring an amide and an ester functionality in connection with a Michael system. The conformation about the C=C bond is E. Intra-molecular N-H⋯O hydrogen bonds occur.

3,5-Bis(4-fluoro-phen-yl)-1-(4-nitro-phen-yl)-4,5-dihydro-1H-pyrazole.

In the title compound, C(21)H(15)F(2)N(3)O(2), a pyrazole derivative bearing three aromatic substituents, the central five-membered heterocyclic ring makes dihedral angles of 1.77 (14), 3.68 (13) and 72.

3-(4-Chloro-phen-yl)-5-phenyl-4,5-di-hydro-1,3-oxazole.

In the title compound, C(15)H(12)ClNO, the isoxazoline ring adopts an envelope conformation with the C atom bearing an unsubstituted phenyl ring as the flap atom. The chlorinated phenyl group is nearly in-plane with the four coplanar atoms of the heterocycle and the corresponding mean planes enclosing an angle of 1.16 (7)°.

1-[5-Acetyl-2,6-dimethyl-4-(5-phenyl-1H-pyrazol-3-yl)-1,4-dihydro-pyridin-3-yl]ethanone monohydrate.

In the title compound, C(20)H(21)N(3)O(2)·H(2)O, the aza-substitued six-membered ring adopts a (L4)B conformation. In the crystal, classical N-H⋯O, N-H⋯N and O-H⋯O hydrogen bonds connect the entities into a three-dimensional network. Intra-molecular C-H⋯O contacts are also observed.

Quinolin-3-amine.

In the crystal structur of the achiral title compound, C(9)H(8)N(2), N-H⋯N hydrogen bonds connect the mol-ecules into zigzag chains in [100]. Weak inter-molecular N-H⋯π inter-actions further consolidate the crystal packing.

(3-Chloro-prop-yl)triphenyl-phospho-nium bromide.

The title compound, C(21)H(21)ClP(+)Br(-), is the bromide salt of a mixed aryl-alkyl phospho-nium cation. C-P-C angles span a range of 107.20 (10)-111.

Five-year clinical and radiographic outcomes using pedicle screw only constructs in the treatment of adolescent idiopathic scoliosis.

Purpose: To determine the mid-term clinical and radiographic impact of pedicle screw fixation in patients with adolescent idiopathic scoliosis (AIS).

Methods: A multicenter AIS database was retrospectively queried to identify 99 consecutive patients who underwent posterior spinal fusion using an all pedicle screw construct with a minimum of 5-year follow-up. Radiographic and clinical parameters were reviewed at regular intervals up to 5 years.

Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.

Hypotrichosis simplex (HS) comprises a group of hereditary isolated alopecias that are characterized by a diffuse and progressive loss of hair starting in childhood and shows a wide phenotypic variability. We mapped an autosomal-dominant form of HS to chromosome 1q31.3-1q41 in a Spanish family.

Agreement of repeated motor and sensory scores at individual myotomes and dermatomes in young persons with spinal cord injury.

Study Design: A prospective repeated measures multicenter study to determine reliability at individual spinal levels when applied to young persons with spinal cord injury (SCI).

Objectives: To evaluate intra- and inter-rater agreement of repeated motor and sensory scores at individual spinal levels.

Setting: Shriners Hospitals for Children--Philadelphia and Chicago, USA.

Selected variants of the melanocortin 4 receptor gene (MC4R) do not confer susceptibility to female pattern hair loss.

Female pattern hair loss (FPHL) is a common hair loss disorder in women with a complex mode of inheritance. Its etiopathogenesis is poorly understood. Widespread assumptions of overlapping susceptibility variants between FPHL and male pattern baldness (androgenetic alopecia) and a crucial role of androgens or distinct sexual steroid hormones in the development of FPHL could neither be clearly demonstrated nor completely excluded at the molecular level up to date.

Spinal cord injuries in children and adolescents.

This chapter provides an overview of spinal cord injuries (SCI) in children and adolescents, including epidemiology, medical and musculoskeletal complications, rehabilitation and psychosocial aspects. Males are more commonly affected than females during adolescence; however, as the age at injury decreases, the preponderance of males becomes less marked, and by 3 years of age the number of females with SCIs equals that of males. The neurologic level and degree of completeness varies with age; among children injured prior to 12 years of age approximately two-thirds are paraplegic and approximately two-thirds have complete lesions.

Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.

Pure hair and nail ectodermal dysplasia (PHNED) is a congenital condition characterized by hypotrichosis and nail dystrophy. Autosomal-recessive PHNED has previously been mapped to chromosomal region 12q12-q14.1, which contains the type II hair keratin and HOXC clusters.

Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.

Punctate palmoplantar keratodermas (PPKPs) are rare autosomal-dominant inherited skin diseases that are characterized by multiple hyperkeratotic plaques distributed on the palms and soles. To date, two different loci in chromosomal regions 15q22-15q24 and 8q24.13-8q24.

A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL.

The oculocerebrorenal syndrome of Lowe is an X-linked recessive disorder characterized by the triad of congenital cataracts, mental retardation and a renal proximal tubulopathy. Although severity of phenotype might vary, congenital cataracts are part of the definition of this rare disorder.We report a 13-year-old patient with the typical cerebrorenal phenotype of Lowe syndrome, that had remained undiagnosed due to absence of any ocular involvement.

Investigation of selected cytokine genes suggests that IL2RA and the TNF/LTA locus are risk factors for severe alopecia areata.

Background: Alopecia areata (AA) is the second most common cause of hair loss in humans, and has a genetically complex inheritance. The hypothesis that AA is autoimmune in nature is supported by previous studies. These report an association with specific HLA alleles, as well as genetic variants of other genes implicated in autoimmunity, such as various cytokine genes.

Surgical treatment of Lenke 1 main thoracic idiopathic scoliosis: results of a prospective, multicenter study.

Study Design: Prospective, consecutive, nonrandomized, multicenter study.

Objective: The purpose of this study was to compare the outcomes of idiopathic scoliosis treatment for Lenke 1 curves with 3 treatment approaches.

Summary Of Background Data: Surgical treatment options for Lenke 1 or primary main thoracic curve pattern in adolescent idiopathic scoliosis include thoracoscopic anterior spinal fusion, open anterior spinal fusion, and posterior spinal fusion (PSF) and instrumentation procedures.

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature.

Among the clusters of imprinted genes in humans, one of the most relevant regions involved in human growth is localised in 11p15. Opposite epigenetic and genomic disturbances in this chromosomal region contribute to two distinct imprinting disorders associated with disturbed growth, Silver-Russell and Beckwith-Wiedemann syndromes. Due to the complexity of the 11p15 imprinting regions and their interactions, the interpretation of the copy number variations in that region is complicated.

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

From data collected via a large international collaborative study, we have constructed a growth chart for patients with molecularly confirmed congenital spondylo-epiphyseal dysplasia (SEDC) and other COL2A1 related dysplasias. The growth chart is based on longitudinal height measurements of 79 patients with glycine substitutions in the triple-helical domain of COL2A1. In addition, measurements of 27 patients with other molecular defects, such as arginine to cysteine substitutions, splice mutations, and mutations in the C-terminal propeptide have been plotted on the chart.

Reduction in radiation (fluoroscopy) while maintaining safe placement of pedicle screws during lumbar spine fusion.

Study Design: Prospective, randomized, controlled study.

Objective: To report the results of using the PediGuard (SpineGuard, Inc., San Francisco, CA), a local electrical conductivity measurement device, to reduce radiation exposure while drilling the pilot hole for pedicle screw placement.