Project description:Sporadic primary hyperparathyroidism (PHPT), one of the most common endocrine disorders, is characterized by hypercalcemia and elevated PTH levels. The majority of cases are caused by a benign parathyroid adenoma, but somatic or de novo germ-line mutations that lead to adenoma formation have only been identified in few glands. GCMB is a parathyroid-specific transcription factor, which causes hypoparathyroidism when inactivated on both parental alleles or when a dominant-negative, heterozygous mutation is present. It is overexpressed in some parathyroid adenomas, and we therefore tested the hypothesis that GCMB mutations can be a cause of parathyroid adenomas. Nucleotide sequence analysis was performed on all coding exons and exon-intron borders of GCMB in 30 sporadic parathyroid adenomas and we identified several known polymorphisms that were either heterozygous or homozygous. In addition, one of the 30 investigated glands revealed a novel heterozygous missense mutation, c.1144G>A, which introduced methionine at position 382 for valine (V382M), a conserved amino acid residue. Western blot analysis using mutant GCMB (GCMB-V382M) from lysates of transiently transfected DF-1 fibroblasts, luciferase assays using extracts from these cells, and electrophoretic mobility assays failed to reveal differences between wild-type and mutant GCMB in expression level, transactivational capacity, and DNA-binding ability. Furthermore, pulse-chase experiments demonstrated no difference in half-life of wild-type and mutant protein. We conclude that mutations in the transcription factor GCMB do not seem to play a major role in the pathogenesis of PHPT.
Project description:We report a case of a 66-year-old woman who developed hyperparathyroidism due to a large intrathyroid parathyroid adenoma with episodes of acute pancreatitis. She had previously been treated for acute pancreatitis twice. Serum calcium was 12.4 mg/dL, and intact parathyroid hormone was 253 pg/dL. Ultrasonography and computed tomography of the neck with contrast enhancement revealed a soft tissue mass (28 mm transverse diameter) within the left lobe of the thyroid. 99mTc-MIBI scintigraphy demonstrated focal accumulation due to increased radiotracer uptake in the left thyroid lobe. Left hemithyroidectomy was performed. Histopathology showed no signs of invasion, and this is consistent with parathyroid adenoma. Immunostaining was positive for expression of chromogranin A and parathyroid hormone. The patient had no episode of pancreatitis after the operation. In a patient with recurrent episodes of pancreatitis, the possibility of complication with hyperparathyroidism should be considered.
Project description:A 16-year-old Chinese male patient presented with constipation lasting five days, colicky abdominal pain, lethargy, weakness and body aches. He was able to pass flatus. Abdominal radiography showed a distended stomach causing inferior displacement of the transverse colon. Computed tomography revealed a dilated oesophagus, stomach and duodenum up to its third portion, with a short aortomesenteric distance and narrow angle. There was also consolidation in the lungs bilaterally. Based on the constellation of clinical and imaging findings, a diagnosis of superior mesenteric artery syndrome complicated by aspiration pneumonia was made. The patient was subsequently started on intravenous hydration, nasogastric tube aspiration and antibiotics. Following stabilisation of his acute condition, a nasojejunal feeding tube was inserted and a feeding plan was implemented to promote weight gain. The clinical presentation, differentials, diagnosis and treatment of superior mesenteric artery syndrome are discussed.
Project description:Hydrocoele of the canal of Nuck is a rare condition in adult women caused by a failure of complete obliteration of the canal of Nuck. It may be likened to a patent processus vaginalis in men. In most cases, the diagnosis is made during surgery as it is often mistaken for an inguinal hernia. We report a case where the diagnosis of this condition was made preoperatively on imaging. The salient anatomy, clinical features, radiological images and surgical management are discussed and the medical literature reviewed.
Project description:A 20-year-old National Serviceman presented with left knee pain and swelling after training for his physical fitness test. Lateral knee radiography and magnetic resonance (MR) imaging showed patellar tendon-lateral femoral condyle friction syndrome (PT-LFCFS), on a background of patella alta and patellar malalignment. The patient was treated non-operatively with a course of physiotherapy and given advice on rest and activity modification. PT-LFCFS is a less well-recognised but important cause of anterior knee pain and represents an entity in a spectrum of disorders related to patellofemoral instability. We herein discuss the MR imaging findings specific to and associated with this condition, as well as briefly describing treatment options. In addition, we showcase a range of commonly encountered abnormalities that affect the infrapatellar fat pad and briefly discuss their specific MR imaging findings.
Project description:A 30-year-old woman presented with a six-month history of left posterior heel pain. Physical examination revealed a tender, inflamed and indurated posterior heel with a visible bony prominence of the posterosuperior aspect of the calcaneus. Lateral ankle radiography showed a prominent left posterosuperior calcaneal tuberosity and thickening of the distal Achilles tendon outline. Magnetic resonance imaging demonstrated high-signal inflammatory fluid in the retrocalcaneal bursa, increased signal intensity and thickening of the Achilles tendon, and prominence of the posterior calcaneus tuberosity with reactive marrow oedema. The findings are consistent with Haglund's deformity. The patient underwent hind foot surgery after failing a six-month course of conservative therapy. There was no further recurrence of symptoms after surgery. The clinical and radiological features of Haglund's deformity are described, including a short discussion of other causes of hind foot pain.
Project description:Although parathyroid fine-needle aspiration (P-FNA) with parathyroid hormone (PTH) washout is effective in detecting preoperative parathyroid lesions, it also presents risks such as fibrosis, hematoma, and, in rare cases, tumor seeding. This study aimed to investigate whether P-FNA with PTH washout leads to the seeding of parathyroid cells along the path of the needle. A retrospective analysis was conducted on patients undergoing minimally invasive parathyroidectomy guided by preoperative PTH washout. Permanent pathology reports, imaging data, and postoperative serum parathyroid hormone and calcium levels were assessed to determine the effectiveness and safety of the procedure. Complications following P-FNA with PTH washout were also reviewed using data from the patient registration system of Bulent Ecevit University. The procedure accurately localized parathyroid adenomas in 87 patients who underwent ultrasound-guided parathyroidectomy following preoperative P-FNA and PTH washout. Postoperatively, 75 patients showed normal parathyroid hormone and calcium levels. Two patients required secondary surgery for contralateral adenomas. Critically, there was no evidence of P-FNA with PTH washout-induced parathyromatosis or seeding during the follow-up. Effective adenoma localization is crucial for successful minimally invasive surgery of hyperparathyroidism. Our study indicates that combining preoperative P-FNAB with PTH washout and imaging enhances adenoma detection, especially when intraoperative PTH measurements are not available, thus improving surgical outcomes. Notably, we found no evidence of cell implantation after P-FNA, suggesting the safety and efficacy of this method for preventing parathyroid cell seeding.
Project description:We retrospectively evaluated how accurately preoperative imaging localizes parathyroid adenoma in superior versus inferior parathyroids. Over 6 years, 104 patients with primary hyperparathyroidism underwent parathyroid surgery in a single centre. Of these, 103 underwent ultrasound, 97 [99mTc]pertechnetate/MIBI SPECT/CT and 30 [18F]fluorocholine (FCH) PET/CT. One patient with a unilateral double adenoma was excluded from the analysis. Surgical findings with histopathologic confirmation of adenoma were used as the standard. Ultrasound misjudged 5 of 48 detected lower adenomas as upper, but 14 of 29 upper adenomas as lower (error rate 10 vs 48%, p = 0.0002). The corresponding error rates for [99mTc]pertechnetate/MIBI SPECT/CT were 3 versus 55% (p = 0.000014), and for [18F]FCH PET/CT 17 versus 36% (p = 0.26). Our results suggest that about half of the superior parathyroid adenomas which are detected, are erroneously assigned to the inferior position by both ultrasound and SPECT/CT imaging whereas the opposite mistake is significantly less frequent with ultrasound and SPECT/CT.