PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Cardiovascular risk factors in adult patients with multisystem Langerhans-cell histiocytosis: evidence of glucose metabolism abnormalities (QJM. 2007 Dec 26). Authors are Аlexandraki KI Makras P, Protogerou AD, et al, from Greece, USA and UK. Langerhans-cell histiocytosis (LCH) is a rare disease with features of chronic inflammation and it may also induce hypopituitarism, conditions associated with an increased risk of cardiovascular diseases. AIM: Cardiovascular and metabolic risk profile investigation in multisystem LCH patients with and without anterior pituitary deficiency.Adults patients with LCH have abnormalities of glucose metabolism that tend to occur in patients with active disease, and may be a consequence of the pro-inflammatory state. 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 Severe gastrointestinal haemorrhage due to primary intestinal Kaposi’s sarcoma – a case report (Niger Postgrad Med J. 2007 Dec;14(4):352-4.). Authors are Adisa AO Salako AA Ojo OS et al, from the Department of Surgery, Obafemi Awolowo University Teaching Hospitals Complex, Ile-Ife, Nigeria. Kaposi’s Sarcoma (KS) was previously a relatively rare disease. With the advent of HIV/AIDS pandemic however, AIDS-related KS has been on the increase and so has interest in the disease. Ninety per cent of patients with KS present with skin lesions. While the gastrointestinal tract is a fairly common site of metastatic KS, primary gastrointestinal KS is uncommon.The presentation of gastrointestinal KS with severe gastrointestinal bleeding is rarer still. In this report, we present a 56yr old HIV-negative patient who presented with severe gastrointestinal bleeding without any skin lesions. 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 Spontaneous spinal epidural haematoma in a 15-month-old boy presenting with a wry neck: a case report (J Orthop Surg (Hong Kong). 2007 Dec;15(3):373-5.). Authors are Fok WM Sun LK Wong NM et al, from the Department of Orthopaedics and Traumatology, United Christian Hospital, Hong Kong. A 15-month-old boy presented with a 2-day history of a wry neck with no definite trauma. He had bilateral upper limb weakness and was afebrile, conscious, and stable. There was no spontaneous movement in both upper limbs. Magnetic resonance imaging of the cervical and thoracic spine demonstrated an extensive spontaneous spinal epidural haematoma from C3 to T8. 23 hours after admission, the patient underwent an emergency right-sided C3 to T8 hemi-laminectomy and haematoma evacuation.The patent’s strength gradually recovered. Spontaneous spinal epidural haematoma is a rare disease in children. A high index of suspicion is essential for its effective management as the interval to operation is the most important prognostic factor. 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 Paternal mosaicism and hereditary angioedema in a Taiwanese family (Ann Allergy Asthma Immunol. 2007 Oct;99(4):375-9). Authors are Yu TC Shyur SD Huang LH et al, from the Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China. Hereditary angioedema (HAE) is a rare disorder characterized by recurrent attacks of localized subcutaneous or submucosal edema. It is inherited in an autosomal dominant fashion and caused by a deficiency of C1 inhibitor (C1 INH). Most patients with HAE have an absolute deficiency of C1 INH (type I HAE), whereas the rest (approximately 15%) synthesize a dysfunctional C1 INH protein (type II HAE). Mosaicism is rare in HAE. Parental mosaicism is a possible explanation for normal C1 INH plasma concentrations in both parents despite clinically apparent HAE in the children. 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 Lumbar hernia. Case report and literature review (Cir Cir. 2007 Sep-Oct;74(5):381-4.). Authors are Tavares-de la Paz LA, Martínez-Ordaz JL from the Servicio de Gastrocirugia, Hospital de Especialidades, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, León, Guanajuato, Mexico. Lumbar hernia is a rare abdominal wall defect that usually presents spontaneously after trauma or lumbar surgery or, less frequently, during infancy (congenital). Few reports have been published in the literature describing congenital lumbar hernia. Congenital lumbar hernia usually originates in the superior triangle or Grynfellt-Lesshaft’s triangle and is frequently associated with the lumbocostovertebral syndrome. Surgery is always indicated, with utilization of prosthetic material or muscular flaps as the best repair technique. 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 The clinical picture of morphea (Przegl Lek. 2007;64(6):438-41). Authors are Wojas-Pelc A Wielowieyska-Szybińska D from the Katedra i Klinika Dermatologii, Collegium Medicum, Uniwersytetu Jagiellońskiego, Kraków. Skin scleroderma (LS) is characterised by stiffness of skin and/or deeper tissues. As opposed to systemic scleroderma, the involvement of internal organs and Raynaud phenomenon are predominately not observed in morphea. LS is quite rare disease, more frequent in women and young people. LS is divided into: plaque morphoea, generalised morphoea, blistering morphoea, linear morphoea and deep morphoea. Different types of skin scleroderma lesions can be observed in one patient or can combine linear and deep fibrosis. Presented classification is clinically useful and it has prognostic and therapeutic implications. 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 Volumetric cortical loss in sporadic and familial amyotrophic lateral sclerosis ( Amyotroph Lateral Scler. 2007 Dec;8(6):343-7). Authors are Turner MR Hammers A Allsop J et al., from the Department of Neurology, John Radcliffe Hospital, Oxford, UK. Patients homozygous for the D90A mutation of the SOD1 gene (homD90A) demonstrate slower progression of disease than those with sporadic ALS (SALS).Analyis of magnetic resonance images (MRIs) enables the detection of regional differences in grey matter volume, and can be used to localize cortical atrophy in vivo.The SALS group showed bilateral areas of atrophy mainly confined to motor and pre-motor cortices. Cortical changes in the homD90A group were more pronounced within the frontal lobes when both were compared with healthy controls. This study provides further evidence for a different pattern of cortical neuronal vulnerability in homD90A versus SALS patients that may provide insight as to their slower rate of disease progression. 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 Merosin-positive congenital muscular dystrophy: neuroimaging findings (Arq Neuropsiquiatr. 2007 Mar;65(1):167-9). Authors are Matta AP Gonsalves Mde C from the Sarah Network of Hospitals for Rehabilitation, Brazil. Congenital muscle dystrophy (CMD) is a heterogeneous group of autosomal recessive myopathies. It is known that CMD may affect the central nervous system (CNS). Some authors have shown that merosin-negative CMD patients may have encephalic metabolic disturbances. In order to study metabolic changes within the brain, the authors performed a magnetic resonance spectroscopy (MRS) study in a 1-year-old girl with merosin-positive CMD (MP-CMD). MRS of brain demonstrated that NAA/Cr ratio was decreased (1.52), while Cho/Cr ratio was increased (1.78). These findings suggest that metabolic changes in CNS can also be found in patients with MP-CMD. 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 Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach. (Arq Neuropsiquiatr. 2007 Mar;65(1):73-6). Authors are Freund AA Scola RH Arndt RC et al., from the Neuromuscular/Neurology Division, Internal Medicine Department, Hospital de Clínicas, Universidade Federal do Paraná, Brazil. Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the dystrophin gene. We studied 106 patients with a diagnosis of probable DMD/BMD by analyzing 20 exons of the dystrophin gene in their blood and, in some of the cases, by immunohistochemical assays for dystrophin in muscle biopsies. In 71.7% of the patients, deletions were found in at least one of the exons; 68% of these deletions were in the hot-spot 3′ region. Deletions were found in 81.5% of the DMD cases and in all the BMD cases. 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 Anaesthetic management of a woman with autosomal recessive limb-girdle muscular dystrophy for emergency caesarean section ( Int J Obstet Anesth. 2007 Oct;16(4):370-4). Authors are Allen T Maguire S from the Department of Anaesthesia, South Manchester University Hospital, Manchester, UK. We report the successful management of a 28-year-old parturient with an autosomal recessive limb-girdle muscular dystrophy with severe restrictive lung disease, who required non-invasive positive pressure ventilation in the third trimester of her pregnancy. At 37 weeks’ gestation she had combined spinal-epidural anaesthesia for emergency caesarean section and had an uncomplicated intra- and postoperative course. The anaesthetic management is discussed and the literature briefly reviewed. To access the full abstract of the article, click here.