Cardiac Phenotypes,Genetics, and Risks in Familial Noncompaction Cardiomyopathy

Background

There is overlap in genetic causes and cardiac features in noncompaction cardiomyopathy (NCCM), hypertrophic cardiomyopathy (HCM), and dilated cardiomyopathy (DCM).

Patterns of disease in patients at a tertiary referral centre requiring reoperative parathyroidectomy

Introduction

Reoperative parathyroidectomy is required when there is persistent or recurrent hyperparathyroidism following the initial surgery (at least 5% of parathyroidectomies nationally). By convention, ‘persistent disease’ is defined as the situation where the patient has not been cured by the first operation. The term ‘recurrent hyperparathyroidism’ is used when the patient was confirmed to be biochemically cured for six months from the first operation but has hyperparathyroidism after this date. Reoperative surgery is associated with higher rates of postoperative complications as well as a greater rate of failure to cure. The aim of our study was to review our departmental experience of reoperative parathyroidectomy, with a view to identify patterns of disease persistence and recurrence.

Methods

Using a departmental database, patients were identified who had undergone reoperative parathyroidectomy between 2006 and 2014. All the pre, intra and postoperative information was documented including the operative note so as to record the location of the abnormal parathyroid gland found at reoperation.

Results

Almost two-thirds (63%) of patients had negative, equivocal or discordant conventional imaging so secondary investigative tools were required frequently. The majority of abnormal glands were found in eutopic locations. The most common locations for ectopic glands were intrathyroidal, mediastinal and intrathymic. A third (33%) of the patients had multigland disease and over a quarter (28%) had coexisting thyroid disease.

Conclusions

Persistent hyperparathyroidism represents a challenging patient subgroup for which access to all radiological modalities and intraoperative parathyroid hormone monitoring are required. Patient selection for reintervention is a key determinant in the reoperation cure rate.     

Specificity of mutagenesis by 4-aminobiphenyl: mutations at G residues in bacteriophage M13 DNA and G-->C transversions at a unique dG(8-ABP) lesion in single-stranded DNA

Mutagenesis by the human bladder carcinogen 4-aminobiphenyl (ABP) was studied in single-stranded DNA from a bacteriophage M13 cloning vector. In comparison to ABP lesions in double-stranded DNA, lesions in single- stranded DNA were approximately 70-fold more mutagenic and 50-fold more genotoxic. Sequencing analysis of ABP-induced mutations in the lacZ gene revealed exclusively base-pair substitutions, with over 80% of the mutations occurring at G sites; the G at position 6310 accounted for 25% of the observed mutations. Among the sequence changes at G sites, G- ->T transversions predominated, followed by G-->C transversions and G-- >A transitions. In order to further elucidate the mutagenic mechanism of ABP, an oligonucleotide containing the major DNA adduct, N- (deoxyguanosin-8-yl)-4-aminobiphenyl (dG(8-ABP)), was situated within the PstI site of a single-stranded M13 genome. After in vivo replication of the adduct containing ABP-modified and control (unadducted) genomes, the mutational frequency and mutational specificity of the dG(8-ABP) lesion were determined. The targeted mutational efficiency was approximately 0.01%, and the primary mutation observed was the G-->C transversion. Thus dG(8-ABP), albeit weakly mutagenic at the PstI site, can contribute to the mutational spectrum of ABP lesions.      

垂体催乳素瘤的诊断和治疗指南

首次测定确立高催乳血症必需避免过度的静脉穿刺压力,理想的情况是醒后或饭后致少1h来测试.     

Deficient Lymphoid Cell-Mediated, PHA-Induced Cytotoxicity in Rheumatoid Arthritis Patients

Lymphoid cells from patients with rheumatoid arthritis were compared with those from healthy blood donors and from nonrheumatoid arthritis patients for the ability to manifest in vitro cytotoxicity against target cells in the presence of phytohemagglutinin (PHA) or anti-target cell antibodies. The PHA-induced cytotoxicity in the rheumatoid patient group was significantly lower than that of the blood donors (P < 0.01) and of the nonrheumatoid patients (P < 0.05). The rheumatoid arthritis patients appeared to fall into two groups, one with normal and one with distinctly subnormal PHA-induced cytotoxicity. No obvious differences were observed between these two groups with regard to duration or activity of the disease, treatment, autoantibodies, or the proportion in peripheral blood of T lymphocytes (E–RFC) or Fc-receptor-bearing lymphocytes (EA-RFC). There were no significant differences between the groups with regard to antibody-dependent cytotoxicity.     

The anatomy lesson of Dr. Nicolaes Tulp by Rembrandt (1632): a comparison of the painting with a dissected left forearm of a Dutch male cadaver

Rembrandt's The Anatomy Lesson of Dr. Nicolaes Tulp (1632) is considered a masterpiece and is a group portrait of the Amsterdam Guild of Surgeons in the form of an anatomy lesson. Dr. Nicolaes Tulp, Doctor of Medicine and Praelector Anatomiae to the Amsterdam Guild of Surgeons, showed an anatomic dissection of a forearm on the corpse of an executed criminal. The anatomic accuracy in Rembrandt's famous painting has been discussed in the literature for decades without any general consensus. In 2006, on the 400th anniversary of Rembrandt's birth, a forearm dissection of a cadaver and a comparison with the anatomy in the painting are presented to analyze the anatomic accuracy of Rembrandt's famous painting.     

“Anatomy Lesson of Frederik Ruysch” of 1670: A Tribute to Ruysch’s Contributions to Lymphatic Anatomy

Background

Frederick Ruysch was one of the most prominent Dutch physicians of the seventeenth and eighteenth centuries. For more than 65 years, he was the Praelector Anatomiae (Lecturer of Anatomy) of the Amsterdam Guild of Surgeons. During his career, he conducted many dissections at the guild’s theatre to teach anatomy. Ruysch was internationally renowned for his great dissection skills and his innovative techniques for preserving anatomical specimens. The “Anatomy Lesson of Dr. Frederik Ruysch” painted in 1670, is thought to be a group portrait undertaken to commemorate the officials of the Guild of Surgeons. Ruysch was portrayed performing an anatomical dissection of inguinal lymph nodes on the corpse of an executed criminal. This portrait is one of the earliest paintings focusing on the “lymphatic system.”

Methods

We investigated the medical background of the painting by revisiting Ruysch’s original work from the mid-seventeenth century. His contributions to the early history of “lymphatic anatomy” are assessed and interpreted from the perspective of the renewed interest in “lymphatic imaging” today.

Results and conclusions

Frederik Ruysch should be considered one of the pioneers contributing to the early knowledge of the lymphatic system. He succeeded in dissecting the lymphatic vessels and valves with the aid of his innovative dissection and preservation techniques. The famous group portrait of the Amsterdam Guild of Surgeons with Ruysch demonstrating the lymph nodes pays tribute to his work on which we still rely today.