Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects

The genetic basis of non-syndromic autosomal recessive forms of amelogenesis imperfecta (AI) is unknown. To evaluate five candidate genes for an aetiological role in AI. In this study 20 consanguineous families with AI were identified in whom probands suggested autosomal recessive transmission. Family members were genotyped for genetic markers spanning five candidate genes: AMBN and ENAM (4q13.3), TUFT1 (1q21), MMP20 (11q22.3-q23), and KLK4 (19q13). Genotype data were evaluated to identify homozygosity in affected individuals. Mutational analysis was by genomic sequencing. Homozygosity linkage studies were consistent for localisation of an AI locus in three families to the chromosome 4q region containing the ENAM gene. ENAM sequence analysis in families identified a 2 bp insertion mutation that introduced a premature stop codon in exon 10. All three probands were homozygous for the same g.13185_13186insAG mutation. These probands presented with a generalised hypoplastic AI phenotype and a class II openbite malocclusion. All heterozygous carriers of the g.13185_13186insAG mutation had localised hypoplastic enamel pitting defects, but none had AI or openbite. The phenotype associated with the g.13185_13186insAG ENAM mutation is dose dependent such that ARAI with openbite malocclusion segregates as a recessive trait, and enamel pitting as a dominant trait.     

The clinical impact of Prostate Imaging–Reporting and Data System classification in patients with haemospermia undergoing multiparametric magnetic resonance imaging of the prostate

In this study, we evaluated the role of the Prostate Imaging–Reporting and Data System (PI-RADS) classification of multiparametric magnetic resonance imaging (mpMRI) to determine the likelihood of prostate cancer (PCa) in patients with haemospermia. Fifty-one patients presenting with haemospermia between 2018 and 2020 were included in this retrospective study. Forty-two of the patients (82.4%) were over 40 years, and the median prostate-specific antigen (PSA) level was 1.4 ng/ml. Fourteen of the patients (27.5%) had recurrent haemospermia. All patients underwent mpMRI, and assessments were classified according to PI-RADS v2. The mpMRI revealed PI-RADS one to four lesions in 10 (19.6%), 30 (58.8%), 6 (11.8%) and 5 (9.8%) patients respectively. One patient with PI-RADS 3 and five with PI-RADS 4 lesions underwent cognitive fusion prostate biopsy depending on MRI findings, and two patients with PI-RADS 4 lesions were diagnosed with PCa. Patients with haemospermia and risk factors, that is aged over 40 years, a high PSA level or familial history of PCa, need a more thorough evaluation with mpMRI.     

Transorbital endoscopic approaches to the skull base: a systematic literature review and anatomical description

Neurosurgical Review - Transorbital endoscopic approaches are increasing in popularity as they provide corridors to reach various areas of the ventral skull base through the orbit. They can be used...     

Epidermoid carcinoma of the male urethra. Case report

A case of voiding difficulties was investigated. Other than usual prostatic obstruction or urethral stricture, a small mass at the anterior region of the bulbous urethra was present. Detailed investigation by urethroscopy, biopsy, CT imaging and ultrasonography revealed epidermoid carcinoma of the urethra.     

Intracranial extension of inverted papilloma: An unusual and potentially fatal complication

BACKGROUND: The purpose of this article is to define the outcome of intracranial extension of inverted papilloma and outline a rationale for management of this rare clinical presentation. METHODS: A review of patients with intracranial extension of inverted papilloma reported in the literature (18 patients), or treated in our institution (3 patients ) was performed. The data of these 21 patients were consolidated with regard to clinical presentation, treatment, and outcome. Nine patients, including 1 of our cases, had coexisting squamous cell carcinoma and therefore were excluded from the analysis. Twelve patients with "pure" inverted papilloma formed the basis of this study. RESULTS: The majority of patients (83%) with intracranial inverted papilloma had recurrent disease. Patients with extradural disease had a survival rate of 86% with an average follow-up of 4.4 years. Eighty-six percent of these survivors were treated with craniofacial resection. In contrast, 75% of patients with intradural inverted papilloma were dead of disease with an average follow-up of 9.3 months regardless of the treatment modality. CONCLUSIONS: Intracranial extension of inverted papilloma is mostly associated with recurrent disease. Intracranial extradural inverted papilloma can be effectively controlled with craniofacial resection. Intracranial intradural involvement of inverted papilloma has a poor prognosis regardless of treatment. Aggressive treatment of intranasal inverted papilloma may be the most important factor in preventing intracranial presentation.