Nerve Injury During Ultrasound-Guided Thyroid Biopsy-A First Reported Complication of Permanent Vocal Fold Paralysis.

Needle biopsy is a well-established component in the evaluation of thyroid nodules. The biopsy is usually performed with an ultrasound guidance and consists of either fine-needle aspiration or core needle biopsy. Although these terms are often used interchangeably, their difference is important. To our knowledge, we discuss the first reported case of biopsy-proven laryngeal nerve injury and permanent vocal fold paralysis following ultrasound-guided core biopsy of the thyroid. We advocate this complication be discussed as part of the consent process.

Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families.

BACKGROUND: Autosomal recessive hypotrichosis is a rare genetic irreversible hair loss characterized by sparse scalp hair, sparse to absent eyebrows and eyelashes, and sparse axillary and body hair. Affected male individuals have normal beard hair. OBJECTIVES: To search for pathogenic mutations in the human P2RY5 gene in Pakistani families with autosomal recessive hereditary hypotrichosis. METHODS: In the present report, 16 unrelated consanguineous Pakistani families having multiple affected individuals with autosomal recessive hypotrichosis were investigated. Linkage in these families was searched by genotyping microsatellite markers linked to autosomal recessive hypotrichosis loci LAH1, LAH2 and LAH3. Thirteen of the families showed linkage to the LAH3 locus on chromosome 13q14.11-q21.32. These families were then subjected to direct sequencing of the P2RY5 gene, which encodes a G protein-coupled receptor. RESULTS: Sequence analysis of the P2RY5 gene revealed two novel missense mutations (c.742A>T; p.N248Y and c.830C>T; p.L277P) in three families. Five previously described mutations including three missense (c.188A>T; p.D63V, c.436G>A; p.G146R, c.562A>T; p.I188F), one insertion (c.69insCATG; p.24insHfsX52) and one complex deletion (c.172-175delAACT; 177delG; p.N58-L59delinsCfsX88) were detected in the other 10 families. CONCLUSIONS: Mutations revealed in the present study extend the body of evidence implicating the P2RY5 gene in the pathogenesis of human hereditary hair loss.

Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC).

BACKGROUND: Isolated congenital nail clubbing (ICNC) is a rare autosomal recessive disorder characterised by enlargement of the terminal segments of fingers and toes with thickened nails due to proliferation of the connective tissues and abnormal function of the nail matrix. In the present study, we investigated a large Pakistani family with 11 affected individuals having hereditary congenital nail clubbing as a single invariable clinical feature without any associated ectodermal, skeletal or systemic imperfection. OBJECTIVE: To identify a gene underlying the ICNC phenotype. METHODS: A genome wide homozygosity linkage mapping strategy was used to identify the gene causing ICNC. DNA sequencing was performed to screen 10 candidate genes located in the linkage interval. RESULTS: We assigned the disease locus for the ICNC to a 13.25 cM region on chromosome 4q32.3-q34.1. This region corresponds to 12.27 Mbp according to the sequence based physical map (Build 36.1) and flanked by markers D4S2952 and D4S415. A maximum two point LOD score of 2.98 ( theta= 0.00) was obtained at marker D4S2368 while a maximum multipoint LOD score of 3.62 was obtained with several markers along the disease interval. Sequence analysis of the candidate genes, in the ICNC linkage interval, revealed a homozygous missense mutation (c.577T>C; p.S193P) in exon 6 of the human HPGD gene encoding NAD(+) dependent 15-hydroxyprostaglandin dehydrogenase (15-PGDH). CONCLUSIONS: The involvement of 15-PGDH in the pathogenesis of ICNC may open up interesting perspectives into the function of this enzyme in nail morphogenesis/development.