The neuronal ceroid lipofuscinoses are a group of neurodegenerative, lysosomal storage disorders. They are inherited as an autosomal recessive pattern with the exception of adult neuronal ceroid lipofuscinosis...
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Cancer Medicine by Alexandros G.Sfakianakis,Anapafseos 5 Agios Nikolaos,Crete 72100,Greece,tel :00302841026182 & 00306932607174
Δευτέρα 24 Σεπτεμβρίου 2018
Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report
The effect of the volume of supra-inguinal injected solution on the spread of the injectate under the fascia iliaca: a preliminary study
Abstract
The fascia iliaca compartment is the compartment confined by the fascia iliaca (FI) and a muscular layer formed by the iliac- and psoas muscle. This compartment creates a virtual tunnel that contains the femoral nerve (FN), the obturator nerve (ON), and the lateral femoral cutaneous nerve (LFCN) of the lumbar plexus. In this pilot study, we aimed to determine the suggested volume needed to reach the three target nerves of the lumbar plexus (FN, ON, and LFCN) with a single-injection ultrasound-guided supra-inguinal fascia iliaca compartment (S-FICB). A computer tomography (CT scan)-guided step-up/step-down sequence was used to determine the suggested injection volume to target all three nerves. Subsequently, an anatomist blinded for the injected volume and CT findings, dissected the cadavers, and evaluated the spread of dye underneath the fascia iliaca. In total, seven pelvic areas of four cadavers were evaluated on CT scan and dissected. Distribution of dye underneath the FI in relation to the FN, ON, and the LFCN was recorded in all dissected cadavers. Combining CT and dissection findings, the suggested volume to reach the FN, ON, and LFCN with an S-FICB was 40 mL.
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Κυριακή 23 Σεπτεμβρίου 2018
Goblet cell carcinoid of the appendix – diagnostic challenges and treatment updates: a case report and review of the literature
Goblet cell carcinoid is a rare but distinct entity of appendiceal tumors which is a hybrid or mixed tumor consisting of both epithelial (glandular) and neuroendocrine elements containing goblet cells. This en...
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Varicella causing remission of Cushings disease
An 18-year-old male with Cushing's disease presented with generalised skin eruptions and backache. He was diagnosed with varicella infection. During the course of the illness, he developed persistent vomiting. Hormonal evaluation suggested adrenal insufficiency. MRI of brain showed features of pituitary apoplexy. Initially, he required hydrocortisone replacement. Later on his hypothalamic–pituitary–adrenal axis recovered and he is currently asymptomatic without any treatment.
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Extreme scoliosis from CKD-MBD resulting in respiratory failure and death
Description
A 64-year-old man presented to our hospital because of dyspnoea. Twenty years ago, he had started peritoneal dialysis (PD) for chronic kidney disease. He had been diagnosed with secondary hyperparathyroidism 7 years before his presentation to our hospital, with an intact parathyroid hormone (PTH) 1227 pg/mL (normal range 10–60 pg/mL), calcium level of 10.1 mg/dL (normal range 8.8–10.5 mg/dL), phosphorus level of 5.5 mg/dL (normal range 2.4–4.1 mg/dL) and alkaline phosphatase level of 377 IU/L (normal range 140–338 IU/L). His medications included cinacalcet. Ultrasonography showed a 5-milimetre nodule at the lower pole of the parathyroid, but 99mTc-hexakis2- methoxyisobutylisonitrile (MIBI)scintigraphy revealed no abnormal accumulation.
The patient's intact PTH increased to 2606 pg/mL 6 years prior to presentation. At that time, the patient deferred parathyroidectomy. A year later, he switched from PD to haemodialysis. Intact PTH remained elevated to more than 4000 pg/mL. His thorax became scoliotic curving to the left. He had experienced dyspnoea on...
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