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91.
Sunita Managutti Anil Managutti Michael Pragasm 《Journal of maxillofacial and oral surgery》2012,11(1):109-114
Osteopetrosis (OP) is a rare congenital disorder (present at birth) in which the bones become over dense. This results from
an imbalance between the formation of bone and the resorption of the bone. Thickening of the bones which become abnormally
dense due to an inherited defect in bone resorption, the process in which old bone is broken down and removed so that new
bone can be added to the skeleton. Osteoclasts are the cells responsible for bone resorption. In osteopetrosis the osteoclasts
do not perform normally. This flaw in bone resorption results in bones that are abnormally dense, yet are fragile and easily
broken. Osteopetrosis is also known as Albers–Schonberg disease, generalized congenital osteosclerosis, ivory bones, marble
bones, osteosclerosis fragilis generalisata. In this article, we have described about the diagnosis and medical and surgical
management of osteopetrosis reported case to our hospital. 相似文献
92.
The innate immune response represents the first line of defense against hepatitis C virus (HCV) infection. The response is
an early, coordinated effort orchestrated by host interferon (IFN) production, natural killer cell activation, and dendritic
cell maturation, which, when effective, primes a successful adaptive immune response, leading to resolution of infection.
Numerous mechanisms allow subversion of innate immunity, often establishing chronicity and resistance to conventional antiviral
therapy. Recent groundbreaking studies examining viral evasion of host defenses and genetic host determinants of response
to IFN have advanced our understanding of the innate immune response to HCV. This has provided the framework for individualized
treatment approaches and the development of novel therapeutics aimed at restoring innate immune signaling during chronic infection.
The objective of this report is to review advances in our understanding of HCV and host innate immune defenses, and to highlight
their clinical translation. 相似文献
93.
Diagnostic utility of testosterone priming prior to dynamic tests to differentiate constitutional delay in puberty from isolated hypogonadotropic hypogonadism
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Maya Thomas Ajith Sivadasan Mathew Alexander Anil Kumar B. Patil 《Annals of Indian Academy of Neurology》2012,15(4):329-331
Subacute sclerosing panencephalitis (SSPE) is chronic encephalitis occurring after infection with measles virus. An 8-year-old boy presented with progressive behavioral changes, cognitive decline and myoclonic jerks, progressing to a bed bound state over 2 months. Magnetic resonance imaging (MRI) brain showed T2-weighted hyperintensities in the subcortical areas of the left occipital lobe and brachium of the inferior colliculus on both sides. EEG showed bilateral, synchronous periodic discharges. Serum/cerebrospinal fluid measles IgG titer was significantly positive. The overall features were suggestive of SSPE. MRI finding of bilateral inferior colliculus changes on MRI without significant involvement of other commonly involved areas suggests an uncommon/rare imaging pattern of SSPE. 相似文献
96.
Zakia Al-Lamki Yasser A. Wali Anil Pathare Kim Göransdotter Ericson Jan-Inge Henter 《Pediatric hematology and oncology》2013,30(8):603-609
Hemophagocytic lymphohistiocytosis (HLH) embraces the frequently indistinguishable conditions of familial hemophagocytic lymphohistiocytosis (FHL) and virus-associated hemophagocytic syndrome (VAHS). Without therapy FHL is invariably fatal, but successful therapy, including chemotherapy and immunotherapy followed by bone marrow transplantation (BMT), has been presented. To clarify the outcome of HLH in a developing country, with regard to clinical, laboratory, and genetic features, a nationwide study on all patients diagnosed with HLH in Oman during the 5-year period 1997-2001 was performed. In 5 patients and their families, mutational analysis was made. Thirteen patients with HLH were identified, 5 of whom had clinical manifestations of central nervous system involvement at presentation. In none of the patients could an infectious cause be identified. Ten children were referred late in the disease course, and the concern about starting chemotherapy before exclusion of an acute viral infection resulted in delayed treatment in some patients. Two children were started early on the HLH-94-therapy followed by successful BMT in one child. In the successfully transplanted child, the response to intrathecal hydrocortisone appeared to be better than standard therapy with intrathecal methotrexate. Finally, a novel missense mutation in the perforin gene was identified in 2 patients and their family members, causing a transition of proline to threonine at codon 89. Early diagnosis and treatment is important to improve outcome. Intrathecal corticosteroids may be considered, in addition to intrathecal methotrexate, in certain patients. Since the novel perforin mutation has been reported in only 2 patients from Oman, and since similar polymorphism in the sequencing data of the members of their families has been identified, a founder effect is possible in this population. 相似文献
97.
M Gayda F Paillard P Sosner M Juneau M Garzon M Gonzalez M Bélanger A Nigam 《Journal of clinical hypertension (Greenwich, Conn.)》2012,14(8):553-560
J Clin Hypertens (Greenwich). 2012;00:00–00 ©2012 Wiley Periodicals, Inc. The effects of sauna alone vs exercise and sauna on ambulatory blood pressure monitoring and central hemodynamic variables were measured in 16 patients with untreated hypertension assigned to a control period, sauna, or exercise and sauna. Exercise and sauna had positive effects on 24‐hour systolic and mean blood pressure in patients with untreated hypertension. Exercise and sauna and sauna alone reduce total vascular resistance, with positive effects lasting up to 120 minutes after heat exposure. 相似文献
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