Dataset Information

Distal defect of the humerus, a possible normal variant: a case report.

ABSTRACT: Many normal variants of bones on plain radiographs have been reported.In the current report, a 14-year-old Asian girl noticed an occasional slight elbow pain. She had no traumatic episode. Plain radiographs showed a well-defined osteolytic lesion with a sclerotic rim, which was continuous with the normal subarticular bone in the distal humerus. Magnetic resonance imaging revealed that the defect area seen on the plain radiograph showed low-signal to iso-signal intensity on T1-weighted images and slightly high-signal intensity on T2-weighted fat suppression images. Bone edema was not observed. The association between her elbow pain and the lesion was not conclusive.The findings from the images suggested that the lesion was a normal variant rather than osteochondritis dissecans or a neoplastic lesion, and possibly an anatomical counterpart of a dorsal defect of the patella.

SUBMITTER: Sakamoto A

PROVIDER: S-EPMC5559787 | biostudies-other | 2017 Aug

REPOSITORIES: biostudies-other

ACCESS DATA

Similar Datasets

Project description:In the amyoplasia type of arthrogryposis, a reverse pronated grasp pattern is often seen. We hypothesized that repositioning the hands, through distal humerus external rotation osteotomies (DHO), would allow for palm-to-palm grasp without arm cross-over and would improve function and parent/patient satisfaction.The medical records of all patients treated surgically for arthrogryposis were reviewed at the Shriners Hospital for Children, St. Louis, MO. From 2012 to 2014, 9 patients (14 extremities) had undergone a DHO. All patients had preoperative and postoperative video recordings of functional activities and we assessed functional changes after osteotomies. Preoperative upper extremity position was graded as 1, palms facing midline; 2, palm facing posterior; and 3, palms facing away from midline. Postoperative Pediatric Outcomes Data Collection Instrument (PODCI) questionnaires were obtained and parent satisfaction was evaluated.Mean patient age at the time of surgery was 6.5 years. Five patients underwent bilateral DHOs. All patients had 3 or fewer additional procedures on an upper extremity during the study period. All patients had an improved resting posture of the upper extremity after DHO surgery, with a mean change of 51° (range, 15°-90°). Grasp pattern was altered in 13 extremities; there was a change in hand position of at least 1 grade and 5 had complete change from 3 to 1, palms facing away from midline to facing toward midline. There was a wide range in postoperative PODCI scores for function, but Happiness scores were high, mean 89 (range, 60-100). Parents universally stated the procedure improved the child's function "a great deal." There were 2 complications: 1 periprosthetic humerus facture with recurrence of the internal rotation and 1 patient with scarring of the triceps requiring tenolysis.The DHO is an effective procedure for correcting the internal rotation position of the upper extremity in arthrogryposis and the surgery improves hand opposition with minimal complications. Universally, there was perceived improved function with high postoperative PODCI Happiness scores.Therapeutic V.

Project description:Left ventricular non-compaction (LVNC) is a rare and genetically heterogeneous cardiomyopathy. The disorder vastly affects infants and young children. Severe neonatal LVNC is relatively rare. The prevalence of genetic defects underlying pediatric and adult-onset LVNC is about 17-40%. Mutations of MYH7 and MYBPC3 sarcomeric genes are found in the vast majority of the positive pediatric cases. PKP2 encodes plakophilin-2, a non-sarcomeric desmosomal protein, which has multiple roles in cardiac myocytes including cell-cell adhesion, tightening gap junction, and transcriptional factor. Most of the reported PKP2 mutations are heterozygous missense and truncating variants, and they are associated with an adult-onset autosomal dominant disorder, namely arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). Homozygous PKP2 mutations have been rarely described. Herein, we present a rare case of an infant with neonatal onset of congestive heart failure owing to severe LVNC and multiple muscular VSD. Medical treatments failed to control the heart failure and the patient died at 11 months of age. Whole-exome sequencing identified a novel homozygous PKP2 variant, c.1511-1G>C, in the patient. An mRNA analysis revealed aberrant transcript lacking exon 7, which was predicted to cause a frameshift and truncated peptide (p.Gly460GlufsTer2). The heterozygous parents had normal cardiac structures and functions as demonstrated by electrocardiogram and echocardiography. Pathogenic variants of sarcomeric genes analyzed were not found in the patient. We conducted a literature review and identified eight families with biallelic PKP2 mutations. We observed that three families (our included) with null variants were linked to lethal phenotypes, while homozygous missense mutations resulted in less severe manifestations: adolescent-onset ARVD/C and childhood-onset DCM. Our data support a previous notion that severe neonatal LVNC might represent a unique entity and had distinct genetic spectrum. In conclusion, the present study has extended the phenotypes and genotypes of PKP2-related disorders and lethal LVNC.

Dataset Information

Distal defect of the humerus, a possible normal variant: a case report.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure