Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.

Linkage analysis with subsequent candidate gene sequencing is typically used to diagnose novel inherited syndromes. It is now possible to expedite diagnosis through the sequencing of all coding regions of the genome (the exome) or full genomes. We sequenced the exomes of four members of a family presenting with spondylo-epiphyseal dysplasia and retinitis pigmentosa and identified a six-base-pair (6-bp) deletion in GNPTG, the gene implicated in mucolipidosis type IIIγ.

Pediatric trigger thumb in identical twins: congenital or acquired?

Pediatric trigger thumb is an uncommon condition with a calculated incidence of 3 per 1000 live births or less. Some reports have suggested a congenital etiology while others could not find a single case of pediatric trigger thumb at birth. This article reports the occurrence of bilateral trigger thumbs in identical twins, age 3 years and 9 months, affecting their thumbs to similar extents, which may suggest a congenital etiology.

Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.

Autosomal-dominant arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) causes sudden cardiac death and is characterized by clinical and genetic heterogeneity. Fifteen unrelated ARVC families with a disease-associated haplotype on chromosome 3p (ARVD5) were ascertained from a genetically isolated population. Identification of key recombination events reduced the disease region to a 2.

A case of fatal aconitine poisoning by Monkshood ingestion.

Accidental aconitine poisoning is extremely rare in North America. This report describes the confirmation of a case of accidental aconitine poisoning using a liquid chromatography-tandem mass spectrometry (LC-MS/MS) method. The case involved a 25-year-old man who died suddenly following a recreational outing with friends where he consumed a number of wild berries and plants including one that was later identified as Monkshood (Aconitum napellus).

Corpora amylacea in a leiomyoma of soft tissue.

A case of myxoid leiomyoma of deep soft tissue is described. The patient was a 42-year-old woman who presented with menorrhagia, and an ischiorectal mass was identified. A total hysterectomy was performed, and the mass was removed.

Subungual metastasis from a rectal primary: case report and review of the literature.

Background: Subungual metastases from colorectal cancer are unusual and have mainly been reported in patients with lung, genitourinary, and breast cancer.

Objective: We present the case of a 72-year-old man with rectal adenocarcinoma and a subungual metastasis to the left thumb 5 years later.

Methods: A case report and a brief review of the literature of subungual metastases are given.

Acute carpal tunnel syndrome due to filarial infection.

A case of acute carpal tunnel syndrome (CTS) due to filarial infection is reported in a resident of Newfoundland, Canada. The patient presented with classical symptoms and signs of acute CTS and a filarial worm was identified in synovial tissue removed during surgery that was morphologically consistent with the genus Brugia. Antifilarial antibodies were present in serum.