Insular carcinoma arising on a background of follicular carcinoma, thyrolipomatosis and amyloid goitre.

A 67-year-old man was referred with a history of a right-sided neck lump and dysphonia, secondary to a lesion in the thyroid gland. After undergoing a total thyroidectomy, he was found to have an exceedingly rare combination of follicular carcinoma, insular carcinoma, thyrolipomatosis and an amyloid goitre in his thyroid gland. He subsequently underwent further radioactive iodine ablation and has been in remission. He was also later incidentally diagnosed with systemic amyloidosis, which explained the amyloid deposition in his thyroid gland.

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome.

Isomorphic mutation of the SBDS gene causes Shwachman-Diamond syndrome (SDS). SDS is a rare genetic bone marrow failure and cancer predisposition syndrome. SDS cells have ribosome biogenesis and their protein synthesis altered, which are two high-energy consuming cellular processes. The reported changes in reactive oxygen species production, endoplasmic reticulum stress response and reduced mitochondrial functionality suggest an energy production defect in SDS cells. In our work, we have demonstrated that SDS cells display a Complex IV activity impairment, which causes an oxidative phosphorylation metabolism defect, with a consequent decrease in ATP production. These data were confirmed by an increased glycolytic rate, which compensated for the energetic stress. Moreover, the signalling pathways involved in glycolysis activation also appeared more activated; i.e. we reported AMP-activated protein kinase hyper-phosphorylation. Notably, we also observed an increase in a mammalian target of rapamycin phosphorylation and high intracellular calcium concentration levels ([Ca(2+)]i), which probably represent new biochemical equilibrium modulation in SDS cells. Finally, the SDS cell response to leucine (Leu) was investigated, suggesting its possible use as a therapeutic adjuvant to be tested in clinical trials.

Spinal cord stimulation in a patient with spinal epidural lipomatosis.

BACKGROUND AND OBJECTIVE: Spinal cord stimulation is the most commonly used implantable neurostimulation modality for management of pain syndromes. For treatment of lower extremity pain, the spinal cord stimulator lead is typically placed in the thoracic epidural space, at the T10-T12 levels. Typically, satisfactory stimulation can be obtained relatively easily. Anatomical variability in the epidural space, such as epidural scarring, has been reported to prevent successful implantation of spinal cord stimulators. Spinal epidural lipomatosis describes an abnormal overgrowth of adipose tissue in the extradural space. Cases have documented spinal epidural lipomatosis complicating intrathecal baclofen pump implantation or causing repeated failure of epidural analgesia. However, so far, there is no published literature describing how spinal epidural lipomatosis affects spinal cord stimulation. CASE REPORT: We report a case of spinal cord stimulation in a patient with spinal epidural lipomatosis. Very high impedance was encountered during the trial spinal cord stimulator lead placement. Satisfactory stimulation was only obtained after repeated repositioning of the spinal cord stimulator trial lead. Post-procedure thoracic spine magnetic resonance imaging revealed marked thoracic epidural lipomatosis. At the level where satisfactory stimulation was obtained, the thickness of the epidural fat was within normal limits. The patient eventually underwent placement of a laminotomy lead with good coverage and pain relief. CONCLUSION: Spinal epidural lipomatosis significantly increases the impedance in the epidural space, making effective neurostimulation very difficult to obtain. Physicians should consider the possibility of spinal epidural lipomatosis when very high impedances are encountered during lead placement.

Lipohyperplasia of the ileocecal valve.

Submucosal lipohyperplasia of the ileocecal valve (ICV) is reportedly a rarely diagnosed lesion of uncertain significance. Eight cases of ICV lipohyperplasia diagnosed in surgical specimens (seven resections, one biopsy) are reviewed: three cases were associated with right lower abdominal quadrant pain and ICV mass on barium enema or operative examination, two were associated with ICV mucosal acute inflammation and necrosis, and three were incidental in resections for cecal, appendiceal, and sigmoid neoplasia. To evaluate the frequency of ICV lipohyperplasia and any associated processes, a series of 51 autopsies was studied. Regarding lipohyperplasia in these valves, 10 (19.6%) were determined to have none, 14 (27.5%) were mild, 20 (39.2%) were moderate, and 7 (13.7%) were marked cases. Degree of lipohyperplasia correlated statistically with degree of cardiac right ventricular fatty infiltration (p = 0.0001), pancreatic fatty infiltration (p = 0.0314), and greater body weight of patient (p = 0.0009). No definite correlation was demonstrated with left ventricular, adrenal, or lymph node fatty infiltration, or with hepatic fatty change, body height, age of patient, or blood glucose. Various gastrointestinal symptoms and lesions accompanied lipohyperplasia, but no definite causal relationship was identified, except for one case of marked lipohyperplasia associated with marked mucosal necrosis and acute inflammation of ICV. In conclusion, ICV lipohyperplasia is a common finding that occasionally may be associated with clinical symptoms and other valve pathology. It correlates to some extent with right ventricular and pancreatic fatty infiltration and with greater body weight.

[Case of lipohyperplasia of the ileocecal valve with adenocarcinoma of the ascending colon].

A rare case of lipohyperplasia of the ileocecal valve contiguous with adenocarcinoma of the ascending colon is reported. The patient was a 67-year-old female with a chief complaint of muco-bloody stool. Barium enema X-ray study revealed a filling defect in the proximal portion of the ascending colon, suggestive of Borrmann II-type carcinoma and enlargement of the ileocecal valve. Ileocecotomy and right colectomy were performed. Histological examination disclosed that the tumor of the ascending colon consisted of well differentiated adenocarcinoma; the proliferation of fat tissue in the submucosa of the ileocecal valve was diagnosed as lipohyperplasia of the ileocecal valve. The histogenesis of this lipohyperplasia seems to be secondary development induced by the adenocarcinoma of the ascending colon.

Lipomatosis and true lipomas of the ileocecal valve.

Two patients with lipomatosis and two patients with true lipoma of the ileocecal valve are described. The symptomatology, radiological appearances, pathological findings and treatment are discussed. True lipomas of the ileocecal valve should be differentiated from the more commonly occurring lipomatosis or lipohyperplasia. The rare true lipomas have a demarcating capsule around the fatty tissue and are confined to only one of the ileocecal lips. The lipomatosis, on the other hand, is characterized by a diffus fatty deposition in the submucosa of the valve with no encapsulation. Lipomatosis as well as true lipomas may appear as rounded, smoothly outlined and sharply demarcated masses on barium enema examination. Occasionally, these filling defects may present problems of differential diagnosis with respect to malignant involvement of the ileocecal region. A correct preoperative diagnosis, however, is important to prevent unnecessary or too radical surgical treatment.