PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Analbuminemia Zonguldak: Case report and mutational analysis (Clin Biochem. 2007 Dec 5). Authors are Caridi G Dagnino M Dalgic B et al, from the Laboratory on Pathophysiology of Uremia, Genova, Italy. To document a new case of the rare disease analbuminemia and to study the molecular defect responsible for the trait.Single-strand conformational polymorphism (SSCP), heteroduplex analysis (HA), and DNA sequencing of the 14 exons and their flanking intron regions. Our results define a new molecular defect in the albumin gene. To access the full abstract of the article, click here
Publications
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Huge hemispheric intraparenchymal cyst caused by Taenia multiceps in a child. Case report (J Neurosurg. 2007 Dec;107(6 Suppl):511-4.). Authors are Benifla M Barrelly R Shelef I et al, from the Department of Neurosurgery, Soroka University Medical Center and Ben-Gurion University of the Negev, Beer Sheva, Israel. The authors report an unusual case of a huge intraparenchymal cyst in a 4-year-old girl caused by Taenia multiceps infection. After surgical removal of the cyst, the child recovered completely. Brain infestation by coenurus is a rare disease, mainly reported in Africa, with a few case reports from patients in developed countries. Humans, especially young children, become intermediate hosts by ingesting eggs passed in the excrement of a definitive host, usually carnivores. In such cases, high mortality and morbidity rates have been reported. These rates decreased after the introduction of the modem neuroradiological techniques of computed tomography and magnetic resonance imaging. To access the full abstract of the article, click here
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Alstrom syndrome (OMIM 203800): a case report and literature review (Orphanet Journal of Rare Diseases 2007, 2:49doi:10.1186/1750-1172-2-49). Authors are Tisha Joy, Henian Cao, Graeme Black et al. Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss. Associated endocrinologic features include hyperinsulinemia, early-onset type 2 diabetes, and hypertriglyceridemia. Thus, AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia, and hypertriglyceridemia. Mutations in the ALMS1 gene have been found to be causative for AS with a total of 79 disease-causing mutatations having been described. To access the full аrticle, click here
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Pancreatic angiomatosis: report of a case (Surg Today. 2008;38(1):72-5. Epub 2007 Dec 24). Authors are So T Matsuda H Sonoda T et al, from the Department of Surgery, Saiseikai Fukuoka General Hospital, Fukuoka, Japan. Recent advances in imaging techniques such as CT and (MRI) have enabled us to detect pancreatic cysts. We report a rare case of pancreatic angiomatosis in a 21-year-old woman who presented with vague abdominal pain, a feeling of fullness, and nausea. Abdominal US, CT, and MRI showed a huge mass in the right upper abdomen. We performed pylorus-preserving pancreato-duodenectomy, and the histopathological examination of the excised specimen revealed that the tumor was angiomatosis, probably originating from parapancreatic fibro-adipose tissue. A complete surgical excision should be performed as curative treatment for pancreatic angiomatosis, which is an extremely rare disease when not associated with Von Hippel-Lindau syndrome. To access the full abstract of the article, click here
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Constant blood flow reduction in premotor frontal lobe regions in ALS with dementia – a SPECT study with 3D-SSP (Acta Neurol Scand. 2007 Nov;116(5):340-4.). Authors are Ishikawa T , Morita M Nakano I et al, from the Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan. We investigated the regional cerebral blood flow in amyotrophic lateral sclerosis with dementia (ALS-D) patients, using single photon emission computed tomography (SPECT). The (123)I-IMP SPECT data for 5 ALS-D and 16 ALS patients were analyzed using three-dimensional stereotactic surface projection (3D-SSP). RESULTS – 3D-SSP demonstrated marked prefrontal hypoperfusion in all the five ALS-D cases and significant bilateral prefrontal hypoperfusion in group comparisons. This study revealed prefrontal hypoperfusion in ALS-D cases to be an obvious abnormality with scientific objectivity. To access the full abstract of the article, click here
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Pathology of thrombotic thrombocytopenic purpura in the placenta, with emphasis on the snowman sign (Pediatr Dev Pathol. 2007 Nov-Dec;10(6):455-62.). Authors are Jamshed S Kouides P Sham R et al, from the Department of Medicine, University of Rochester School of Medicine, Rochester, NY, USA. Thrombotic thrombocytopenic purpura (TTP) commonly affects women of childbearing age. Although cases of TTP in pregnancy have been reported, the pathology of TTP in the placenta has not been described. In other organs, TTP has a distinctive pathology of arteriolar aneurysms with segmental intramural hyaline deposits. We report 2 cases of TTP in pregnancy, both leading to fetal loss in the 2nd trimester. We noticed a distinctive pathology of TTP in the spiral arteries on the maternal surface of the placenta, particularly the “snowman sign,”In one of our cases, where the clinical diagnosis of TTP was difficult, the distinctive placental findings helped reinforce the clinical decision to perform potentially life-saving plasmapheresis. To access the full abstract of the article, click here
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Physiotherapeutic conduct in amyotrophic lateral sclerosis (Sao Paulo Med J. 2006 Nov 7;124(6):350-4). Authors are Pozza AM Delamura MK Ramirez C et al, from the Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto, São Paulo, Brazil. Amyotrophic Lateral Sclerosis (ALS) is a fatal progressive neurodegenerative disease with multifactorial etiology for which, so far, there is no effective medicinal treatment. However, by means of kinesiotherapy intervention and patient guidance and care, physiotherapy can delay physical functional losses, muscle fatigue and immobility of the joint-muscle system, thereby improving the quality of life. This survey had the aim of reviewing the physiotherapeutic conduct currently used in ALS cases. Monthly monitoring is recommended, with changes in goals and conduct at each stage of the disease, activities to be pursued around the home, and emphasis on stretching, muscle strengthening, posture adequacy and respiratory kinesiotherapy. To access the full abstract of the article, click here
Priorities in the discovery of the implications of water channels in epilepsy and duchenne muscular dystrophy.
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PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Priorities in the discovery of the implications of water channels in epilepsy and duchenne muscular dystrophy ( Cell Mol Biol (Noisy-le-grand). 2006 Oct 30;52(7):46-50.). Author is Benga I from the Department of Pediatric Neurology, Iuliu Hatieganu University of Medicine and Pharmacy Cluj-Napoca, Romania. In 1977 Benga and Morariu reported a decreased water permeability of red blood cells in children with idiopathic epilepsy (cases selected by Ileana Benga). This investigation was performed as part of a program of research of hydroelectrolytic alterations in child epilepsy. On the other hand the group of Gheorghe Benga has reported a decreased water permeability of RBC in patients with Duchenne muscular dystrophy. These findings were interpreted as an expression of generalized membrane defects affecting water permeability in epilepsy and Duchenne muscular dystrophy. In recent years this idea was confirmed by reports indicating aquaporin abnormalities in the brain of epileptic patients and in the muscle of Duchenne muscular dystrophy patients. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Anesthesia and myotonic dystrophy (Steinert’s syndrome). The role of total intravenous anesthesia with propofol, cisatracurium and remifentanyl. Case report. ( Minerva Anestesiol. 2007 Sep;73(9):475-9). Authors are Catena V Del Monte DD Rubini A et al., from the Intensive Care Unit, ULSS 3, Bassano del Grappa Hospital, Vicenza, Italy. Anesthesia for patients with Steinert’s syndrome (myotonic dystrophy, MD) is a challenge for the anaesthetist. MD is a multisystemic disease and the neuromuscular symptoms can be associated with sleep apnea, endocrine disorders (diabetes, hypogonadism, hypothyroidism), cardiac, gastroenteric or cognitive disorders (mental deficiency, attention disorders). The diagnosis is facilitated when one or more of these symptoms are associated with the neuromuscular symptoms; however, the latter are not always present at the onset, which makes the diagnosis of MD a difficult and often late one. The choice of drugs and the choice of anesthesia in these patients can be very challenging for many reasons. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Ultrasound-guided brachial plexus block in a patient with multiple glomangiomatosis (Reg Anesth Pain Med. 2008 Jan-Feb;33(1):70-3). Authors are Duggan E Brull R Lai J et al, from the Department of Anesthesia and Pain Management, Toronto Western Hospital University Health Network, Toronto, Ontario, Canada. Glomangiomas are rare, vascular tumors consisting of an afferent artery, arteriovenous canal, neuro-reticular elements, collagen, and efferent veins, and are most often located in the soft tissue of the upper extremities. We describe how the use of ultrasound-guided nerve blockade altered the anesthetic management of a patient with multiple glomangiomatosis undergoing elective forearm surgery.Although multiple glomangiomatosis is a rare disease, this case illustrates the invaluable contribution that ultrasound has made to modern, regional anesthetic practice, especially for patients with aberrant anatomy in whom traditional nerve-localization techniques could result in serious complications. To access the full abstract of the article, click here.