PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Childhood systemic sclerosis (Curr Opin Rheumatol. 2007 Nov;19(6):592-7). Authors are Zulian F and Martini G from the Pediatric Rheumatology Unit, Department of Pediatrics, University of Padova, Italy. Juvenile systemic sclerosis has a variety of clinical manifestations, sometimes different from the adult form. Early recognition, proper classification and treatment may improve the long-term outcome. A multicenter study coordinated by the Paediatric Rheumatology European Society has yielded important information on the epidemiology and clinical manifestations of systemic sclerosis in childhood. An ad-hoc Committee on Classification Criteria for Juvenile Systemic Sclerosis developed the new classification criteria to help improve patient care by enabling earlier diagnosis. The outcome of children with systemic sclerosis is better than in adults but, in those cases with a fatal course, disease progression is rapid and an early involvement of internal organs. 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 Surgical outcome of thoracic myelopathy secondary to ossification of ligamentum flavum. ( Joint Bone Spine. 2007 Aug 3). Authors are Park BC Min WK Oh CV et al., from the Department of Orthopaedic Surgery, School of Medicine, Kyungpook National University, Republic of Korea. Thoracic myelopathy secondary to OLF is a rare disease described almost exclusively in Japanese patientsThis study is to describe the clinical and radiologic aspects, as well as surgical outcomes in a group of South Korean patients.Diagnosis in each case was established using CT and MRI. Walking difficulties were the most common presenting complaint. Spastic paraparesis associated with sphincter dysfunction was the most common finding on initial examination. Decompressive laminectomy with excision of the OLF resulted in significant improvement in motor weakness and gait. . When neurologic symptoms develop, decompressive laminectomy should be done immediately. 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 Hypophosphatasia (Orphanet Journal of Rare Diseases 2007, 2:40). Author is Etienne Mornet. Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization and deficiency of serum and bone alkaline phosphatase activity.The symptoms are highly variable – from stillbirth without mineralized bone to early loss of teeth without bone symptoms. There are six clinical forms – perinatal (lethal), perinatal benign, infantile, childhood, adult and odontohypophosphatasia. The disease is due to mutations in the liver/bone/kidney alkaline phosphatase gene (ALPL; OMIM# 171760) encoding the tissue-nonspecific alkaline phosphatase (TNAP). There is no curative treatment for hypophosphatasia. Enzyme replacement therapy will be certainly the challenge of the next years. 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 “Idiopathic granulomatous mastitis.” (Am Surg. 2007 Aug;73(8):798-802). Authors are Wilson JP, Massoll N, Marshall J, et al., from the Department of Surgery, Division of Surgical Oncology, University of Florida, Gainesville, Florida, USA. Idiopathic granulomatous mastitis, also known as idiopathic granulomatous lobular mastitis, is a benign breast lesion that represents both a diagnostic and therapeutic dilemma. The authors report two cases of granulomatous mastitis. To better understand this rare disease, they analyzed treatment outcomes in reported cases of granulomatous mastitis. Based on this analysis, the authors propose a clinically useful algorithm for both workup and management of these challenging 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 “Caroli’s disease.” (Laeknabladid. 2007 Sep;93(9):603-605). Authors are Aqustasson AI and Cariqlia N. In 1958 Caroli described a rare disease with multifocal, segmental and saccular dilation of the large intrahepatic bile ducts which causes stagnation of bile and formation of bile sludge and stones. This results in recurrent abdominal pain, cholangitis and hepatic abscesses. The diagnosis is confirmed with endoscopic retrograde cholangiopancreatography (ERCP) and percutaneous transhepatic cholangiography (PTC) and the purpose of treatment is to restore normal bile flow. The authors report a case where a male who had a history of recurrent bouts of abdominal pain and pancreatitis was diagnosed with Caroli’s disease. 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 Guideline “Differentiated thyroid carcinoma” (Ned Tijdschr Geneeskd. 2007 Aug 11;151(32):1777-82). Authors are Links TP, Huysmans DA, Smit JW, et al., from the Universitair Medisch Centrum Groningen, afd. Interne Geneeskunde, subafd. Endocrinologie, Groningen. Differentiated thyroid carcinoma is a rare disease. The Dutch Society of Nuclear Medicine and the Dutch Endocrine Society developed an evidence-based guideline that emphasises not only new scientific developments but also the organisation of care. Thyroid-stimulating hormone (TSH) assessment and fine needle aspiration cytology play a central role in the diagnostic assessment of a patient with a thyroid nodule. Follow-up protocols distinguish between patients with a low risk of thyroid-carcinoma recurrence and those with a non-low risk of recurrence. 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 “Evaluation of a Congenital Erosive and Vesicular Dermatosis.” (Pediatr Dermatol. 2007 Jul;24(4):384-386). Authors are Goncalves RV, Pessoa OM and Lowy G, from the Department of Dermatology, Federal University of State of Rio de Janeiro, Rio de Janeiro, Brazil. Congenital erosive and vesicular dermatosis healing with reticulated supple scarring is a rare disease first reported by Cohen et al in 1985. To date only 13 cases of this disease have been reported. This entity is characterized by the presence of erosions and vesicles at birth, usually affecting about 75% of the body which heals with reticulated scarring in weeks to months. The authors report a case of this disease related to a boy who was born with erosions affecting his head, trunk, and limbs. All lesions healed completely after 3 months with reticulated scarring without any clinical complications. To access the abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Management of Hereditary Angioedema in Pediatric Patients.” (Pediatrics. 2007 Aug 27). Authors are Farkas H, Varga L, Szeplaki G, et al., from the 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary. hereditary angioneurotic edema (HAE) is a rare disorder caused by the congenital deficiency of C1 inhibitor. Recurring angioedematous paroxysms that most commonly involve the subcutis (eg, extremities, face, trunk, and genitals) or the submucosa (eg, intestines and larynx) are the hallmarks of hereditary angioneurotic edema. Manifestations occur during the initial 2 decades of life, but even today there is a long delay between the onset of initial symptoms and the diagnosis of hereditary angioneurotic edema. The authors review their experience and published data to provide an approach to hereditary angioneurotic edema in childhood. 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 “Ventricular arrhythmias during Tako-tsubo syndrome.” (Int J Cardiol. 2007 Aug 14). Authors are Bonello L, Com O, Ait-Moktar O, et al., from the Département de cardiologie, Hôpital universitaire Nord, Marseille, France. Tako-tsubo syndrome is a recently described form of cardiomyopathy. Its pathophysiology remains unknown. However, the main demographic, clinical, electrocardiographic and biologic characteristics of the disease have been described by previous reports. Retrospective studies are essential to help describe this rare disease, although they might have several skews. Previous reports have observed a mortality rate between 0 and 8%. Tako-tsubo syndrome may present as sudden death and its mortality rate may have been underestimated in previous reports. To access the full abstract of the article, click here.
Fucosidosis
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PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Fucosidosis: MRI and MRS findings.” (Pediatr Radiol. 2007 Aug 18). Authors are Oner AY, Cansu A, Akpek S, et al, from the Department of Radiology, Gazi University School of Medicine, Ankara, Turkey. Fucosidosis is a rare, autosomal recessive lysosomal storage disease in which fucose-containing glycolipids, glycoproteins, and oligosaccharides accumulate in tissues as a consequence of alpha-L: -fucosidase enzyme deficiency. The authors present the MR imaging findings of diffuse white-matter hyperintensity and pallidal curvilinear streak hyperintensity in a 6-year-old Caucasian girl with a diagnosis of fucosidosis based on cDNA isolated from skin fibroblasts. To access the full abstract of the article, click here.