A Clinicopathologic and Molecular Analysis of Fumarate Hydratase-deficient Pheochromocytoma and Paraganglioma.

Up to 40% of pheochromocytomas (PCCs) and paragangliomas (PGLs) are hereditary. Germline mutations/deletions in fumarate hydratase ( FH ) cause hereditary leiomyomatosis and renal cell carcinoma syndrome which manifests predominantly with FH-deficient uterine/cutaneous leiomyomas and renal cell carcinomas (RCCs)-tumors characterized by loss of immunohistochemical (IHC) expression of FH and/or positive staining for S-(2-succino)-cysteine. Occasional patients develop PCC/PGL.

Outpatient synacthen testing in a large metropolitan region: a clinical audit.

Aim: To audit short synacthen tests (SSTs) performed at a single laboratory within the greater Auckland area.

Methods: Two hundred and eighty-seven SSTs conducted in 286 individuals between September 2016 and September 2019 were assessed. Test requests were not triaged.

An unusual case of Cushing's syndrome due to bihormonal ACTH-prolactin secreting pituitary macroadenoma with rapid response to cabergoline.

A 23-year-old man presenting with florid Cushing's syndrome was found to have high plasma ACTH and very high serum prolactin. Pituitary MRI showed a large invasive macroadenoma. Low-dose cabergoline promptly suppressed both ACTH and prolactin levels within 2 weeks, with unexpected clinical and biochemical hypocortisolism requiring hydrocortisone replacement.

Neurological manifestations of phaeochromocytomas and secretory paragangliomas: a reappraisal.

Objective: To determine the frequency and range of neurological manifestations of phaeochromocytomas and secretory paragangliomas.

Methods: A retrospective review of case notes of patients admitted to Auckland Hospital from 1985 to 2011 with a discharge diagnosis of phaeochromocytoma or secretory paraganglioma.

Results: Ninety-three patients were admitted with a phaeochromocytoma or secretory paraganglioma.

A retrospective review of acute encephalitis in adults in Auckland over a five-year period (2005-2009).

We conducted a retrospective audit of the outcomes of patients 15 years of age and older from the greater Auckland region who had a diagnosis of encephalitis over a five-year period. Patients were identified via a database search of all patients who had a cerebrospinal fluid (CSF) viral polymerase chain reaction (PCR) panel requested between 2005 and 2009. All CSF viral PCR were performed at one laboratory.

Delayed puberty from partial 17-alpha hydroxylase enzyme deficiency.

An 18-year-old woman with primary amenorrhoea and pubertal delay was investigated for mild labile hypertension and secondary hypogonadism. Low renin and normal aldosterone levels combined with evidence of primary adrenal insufficiency suggested partial 17-alpha hydroxylase enzyme deficiency. The diagnosis was confirmed by measurement of 24-hour urine steroid metabolites and whole gene sequencing of CYP17A1 that demonstrated c.

Rapid development of anterotibial compartment syndrome and rhabdomyolysis in a patient with primary hypothyroidism and adrenal insufficiency.

Background: Anterior compartment syndrome (ACS) and rhabdomyolysis are rare complications of hypothyroid myopathy. We report the case of a young man with rapid onset of ACS who presented with simultaneous primary hypothyroidism and adrenal insufficiency associated with acute renal failure, hyponatremia, and hyperkalemia.

Patient Findings: A 22-year-old man presenting with a one-month history of tiredness, hyperpigmentation, and cramps in his calves was found to have severe bilateral foot drop.

Are pregnant women in New Zealand iodine deficient? A cross-sectional survey.

Severe iodine deficiency in pregnancy can result in cretinism. There is growing concern that less severe iodine deficiency may also affect fetal growth and development. A handful of prior small New Zealand studies focussed on pregnant women living in Dunedin.

Mortality and morbidity in Cushing's syndrome in New Zealand.

Objective: Untreated Cushing's syndrome (CS) is associated with significant morbidity and mortality. However, recent operative series suggest low morbidity and mortality for CS, whereas population-based surveys report elevated mortality rates. We investigated the mortality and morbidity of CS in New Zealand.

Hot flushes, hypertension and haemodialysis.

Hypertension is common in patients with end stage renal disease. However, in patients non-responsive to standard measures to control the blood pressure, non-renal causes should be considered. We present the case of a patient on haemodialysis with difficult to control blood pressure.

Distribution of HPV genotypes in women with cervical cancer in Auckland, New Zealand; a review of 50 specimens between 2000-2006.

Background: In New Zealand, around two hundred women are diagnosed with cervical cancer annually, with approximately seventy deaths from cervical cancer per year.

Aim: Our aim was to determine the distribution of oncogenic HPV genotypes in biopsy specimens from women with diagnosed cervical cancers in the Auckland region of New Zealand between 2000-2006.

Materials And Methods: Confirmed cases of cervical carcinoma were identified from the local pathology register, and representative tissue samples were taken from these blocks.

Fatal human herpesvirus-6 infection after renal transplantation.

Introduction: Human herpesvirus (HHV)-6 infection is common after organ transplantation; however, most cases are associated with a mild clinical course. Donor-derived infection is rare, and there are no reports of HHV-6 infection in more than one recipient from a common donor.

Methods: We describe two patients who developed severe, and in one case fatal, HHV-6 variant A infection after renal transplantation.

Role of ultrasound in the assessment of nodular thyroid disease.

The role for ultrasound (US) in the assessment of nodular thyroid disease has increased in recent years. This expanded role has been highlighted in recent consensus guidelines on the management of nodular thyroid disease. In this review, we address the potential roles for US in assessing thyroid nodules and review these recent guidelines.

Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

Multiple genes and their variants that lend susceptibility to many diseases will play a major role in clinical routine. Genetics-based cost reduction strategies in diagnostic processes are important in the setting of multiple susceptibility genes for a single disease. Head and neck paraganglioma (HNP) is caused by germline mutations of at least three succinate dehydrogenase subunit genes (SDHx).

Absence of transmission of potentially xenotic viruses in a prospective pig to primate islet xenotransplantation study.

Shortage of human donor organs for transplantation has prompted usage of animals as an alternative donor source. Pigs are the most acceptable candidate animals but issues of xenozoonoses remain. Despite careful monitoring of designated pathogen free pigs there is still a risk that their tissues may carry infectious agents.

Follicular lymphoma in a X-linked lymphoproliferative syndrome carrier female.

X-linked lymphoproliferative (XLP) syndrome is a rare primary immune-deficiency disorder caused by mutations of the SH2D1A or XIAP genes. Males with the disorder are usually in good health until contracting Epstein-Barr virus (EBV) whereupon the majority of patients die from fulminant infectious mononucleosis, lymphoma or hypogammaglobulinaemia. This report describes a female carrier with an XLP phenotype who was retrospectively identified after her grandson died from the disorder.

Porcine endogenous retrovirus transmission characteristics from a designated pathogen-free herd.

Previously, a strategy for monitoring pigs intended for cell transplantation was developed and successfully applied to several representative herds in New Zealand. A better understanding of porcine viruses' epidemiology in New Zealand has been achieved, and, as a result, a designated pathogen-free (DPF) herd has been chosen as a good candidate for xenotransplantation. This herd is free of all infectious agents relevant to xenotransplantation.

Porcine endogenous retrovirus (PERV) and its transmission characteristics: a study of the New Zealand designated pathogen-free herd.

Previously a strategy for monitoring of pigs intended for cell transplantation was developed and successfully applied to several representative herds in New Zealand. A designated pathogen-free (DPF) herd has been chosen as a good candidate for xenotransplantation. This herd has previously tested free of infectious agents relevant to xenotransplantation and we present here an in depth study of porcine endogenous retrovirus (PERV) transmission.

Identification of five major and two minor genotypes of varicella-zoster virus strains: a practical two-amplicon approach used to genotype clinical isolates in Australia and New Zealand.

Whole genome phylogenetic analysis in this study resolved a total of five major genotypes among the 22 varicella-zoster virus (VZV) strains or isolates for which complete genomic sequences are available. Consistent with earlier publications we have designated these genotypes European 1 (E1), European 2 (E2), Japanese (J), mosaic 1 (M1), and mosaic 2 (M2). Single nucleotide polymorphism (SNP) analysis performed in a whole-genome alignment revealed that VZV isolates of all five genotypes can be accurately genotyped using SNPs from two amplicons: open reading frame 22 (ORF22) and either ORF21 or ORF50.

Combined coronary artery bypass grafting and phaeochromocytoma excision.

We report two patients who had successful combined coronary artery bypass grafting and excision of phaeochromocytoma. These cases represent the first reports of combined coronary artery bypass grafting and laparoscopic adrenalectomy for phaeochromocytoma and of combined coronary artery bypass grafting and excision of extra-adrenal phaeochromocytoma. With careful peri- and intra-operative management, especially in regard to haemostasis, combined operations for coronary artery disease and phaeochromocytoma are both feasible and safe.