Primary hypoparathyroidism is a rare disorder that presents with various psychiatric and neurological symptoms. A 50-year-old female patient visited hospital due to recurrent seizures. Despite treatment with phenytoin and diazepam, her seizures persisted. Laboratory tests revealed hypocalcemia, hyperphosphatemia, and decreased intact parathyroid hormone level. Following treatment with valproic acid and calcium supplementation, her seizures ceased. Thorough examination including laboratory tests play a crucial role in the accurate diagnosis of primary hypoparathyroidism in a patient with recurrent seizures.

OBJECTIVE: To investigate the effect of treadmill walking exercise as a treatment method to improve gait efficiency in adults with cerebral palsy (CP) and to determine gait efficiency during overground walking after the treadmill walking exercise. METHODS: Fourteen adults with CP were recruited in the experimental group of treadmill walking exercise. A control group of 7 adults with CP who attended conventional physical therapy were also recruited. The treadmill walking exercise protocol consisted of 3-5 training sessions per week for 1-2 months (total 20 sessions). Gait distance, velocity, VO2, VCO2, O2 rate (mL/kg.min), and O2 cost (mL/kg.m) were assessed at the beginning and at the end of the treadmill walking exercise. The parameters were measured by KB1-C oximeter. RESULTS: After the treadmill walking exercise, gait distance during overground walking up to 6 minutes significantly increased from 151.29+/-91.79 to 193.93+/-79.01 m, and gait velocity increased from 28.09+/-14.29 to 33.49+/-12.69 m/min (p<0.05). Energy efficiency evaluated by O2 cost during overground walking significantly improved from 0.56+/-0.36 to 0.41+/-0.18 mL/kg.m (p<0.05), whereas O2 rate did not improve significantly after the treadmill walking exercise. On the other hand, gait velocity and O2 cost during overground walking were not significantly changed in the control group. CONCLUSION: Treadmill walking exercise improved the gait efficiency by decreased energy expenditure during overground walking in adults with CP. Therefore, treadmill walking exercise can be an important method for gait training in adults with CP who have higher energy expenditure.
Adult* ; Cerebral Palsy* ; Energy Metabolism ; Gait* ; Hand ; Humans ; Walking*

Macrophage activation syndrome (MAS) is a secondary hemophagocytic lymphohistiocytosis caused by autoimmune diseases, such as systemic lupus erythematosus (SLE). It is characterized by fever, cytopenia, coagulopathy, hepatosplenomegaly, elevated liver enzyme, and high ferritin, typically combined with hemophagocytic histiocyte proliferation in the bone marrow. Here, we report a case of MAS in a patient with SLE treated successfully by tocilizumab. She was transferred to our hospital due to persistent fever of unknown origin. Initial blood tests revealed cytopenia, elevated liver enzyme, and high ferritin. Bone marrow histology revealed the presence of hemophagocytic histiocytes. The patient was initially treated with high dose corticosteroids; however, fever and cytopenia were not controlled. Additional treatments with cyclosporine, intravenous immunoglobulin, and rituximab were applied consecutively, but the fever and cytopenia persisted. Symptom resolution was finally achieved following treatment with tocilizumab, resulting in rapid improved of fever, and resolution of pancytopenia within 2 months.
Adrenal Cortex Hormones ; Autoimmune Diseases ; Bone Marrow ; Cyclosporine ; Ferritins ; Fever ; Fever of Unknown Origin ; Hematologic Tests ; Histiocytes ; Humans ; Immunoglobulins ; Liver ; Lupus Erythematosus, Systemic* ; Lymphohistiocytosis, Hemophagocytic ; Macrophage Activation Syndrome* ; Macrophage Activation* ; Macrophages* ; Pancytopenia ; Rituximab

Innate immunity and adaptive immunity are two major immune responses against pathogens. Innate immunity is responsible for the immediate immune response to pathogens. Pattern-recognition receptors (PRRs) play an important role in innate immune response. PRRs recognize regular patterns of molecule structure known as pathogen-associated molecular patterns (PAMPs). Among the PRRs, Toll-like receptors (TLRs), RIG-I-like receptors (RLRs), and DNA-dependent activator of interferon regulatory factors (DAI) display key roles in response to viral infections. This article reviews how viral infections activate PRR-PAMP signal pathways and how viruses evade immune responses elicited by PRR signal pathways.
Adaptive Immunity ; Immune System ; Immunity, Innate ; Interferon Regulatory Factors ; Porcine Reproductive and Respiratory Syndrome ; Signal Transduction ; Toll-Like Receptors

Gastrointestinal mucormycosis is an uncommon opportunistic fungal infection often presents in immunocompromised patients. Direct invasion of the intestinal walls by spores from ingested food is the main pathogenetic mechanism of this disease, which usually takes place in stomach and colon. Early diagnosis is critical, especially in vascular invasive types, due to its high mortality rate close to 100%. In the past when appropriate diagnostic tools were not available, mucormycosis were frequently found with autopsy. The advance in current endoscopic technology has increased diagnostic rate and made successful management available with appropriate treatments such as debridement of contaminated tissues. In this case report, we discussed a case of ileal mucormycosis diagnosed by colonoscopy and treated with anti-fungal agent successfully.
Amphotericin B/therapeutic use ; Antifungal Agents/therapeutic use ; Colonoscopy ; Humans ; Ileal Diseases/*diagnosis/microbiology/therapy ; Ileum/pathology ; Immunocompromised Host ; Leukemia, Myeloid, Acute/*complications/drug therapy ; Male ; Mucormycosis/*diagnosis/etiology/therapy ; Tomography, X-Ray Computed ; Young Adult

In order to investigate the implication of viral replication in acute, subacute, and chronic infections of coxsackievirus B3 (CVB3), we examined the histopathological changes and plus- and minus-strand viral RNA dynamics in heart, pancreas, brain, and liver of CVB3-infected A/J mice. Mice were inoculated intraperitoneally with CVB3 and sacrificed on 1, 2, 3, 4, 7, 10, 14, 21, 30, 60, and 90 days post infection (p.i.). Plus- and minus-strand viral RNAs in the organs were quantitated and the organs were additionally evaluated histopathologically for inflammation. No inflammatory infiltrates were observed in the liver, brain, and heart. In contrast, massive lymphocyte infiltration and fat replacement were shown in the pancreas with loss of acinar cells. Both plus- and minus-strand viral RNA levels were detected by 21 days p.i. in heart, 90 days p.i. in pancreas, 4 days p.i. in liver, and 10 days p.i. in brain. The plus-strand RNA was found at least fifty fold higher than the minus-strand RNA by 4 days p.i. in heart and pancreas and by 3 days p.i. in liver. The plus- to minus-strand RNA ratio in brain was found less than 1:20. Our data indicate that viral replication was actively occurred in heart, pancreas, and liver during acute CVB3 infection, whereas viral replication was limited in brain. Furthermore, chronic persistent viral RNA was observed in pancreas. In conclusion, CVB3 at low dose of virus induces severe pancreatitis but marginal or no inflammatory changes in the heart, liver, and brain.
Acinar Cells ; Animals ; Brain ; Heart ; Inflammation ; Liver ; Lymphocytes ; Mice ; Pancreas ; Pancreatitis ; RNA ; RNA, Viral ; Viruses

PURPOSE: To evaluate the sensitivity and specificity of the DNA chip method in diagnosing patients with granular corneal dystrophy type II (GCD II) induced by mutation of the betaigh3 gene. METHODS: Two hundred twenty-seven patients who visited Severance Eye hospital, corneal dystrophy clinic, from 1 July 2006 to 30 September 2007 were included in this study after history taking and review of their medical records. All subjects were examined by slit lamp microscopy, and blood sampling was done. The sampled blood was used in DNA sequencing and the DNA chip method. RESULTS: Among 227 subjects, 125 (54.6%) patients had GCD II and 103 (45.4%) patients showed normal results according to the DNA sequencing method. The sensitivity and specificity of the DNA chip method were both 100%, while the sensitivity of the slit lamp method was 99.19% and the specificity was 100%. CONCLUSIONS: The DNA chip method for diagnosing GCD II is a more simple, time-saving, and accurate method than DNA sequencing method, and the sensitivity and specificity were both 100%.
DNA ; Eye ; Humans ; Medical Records ; Microscopy ; Oligonucleotide Array Sequence Analysis ; Sensitivity and Specificity ; Sequence Analysis, DNA

The deficiency of enzyme hypoxanthine-guanine phosphoribosyltransferase(HPRT) results in hyperuricemia and subsequently manifests in diverse symptoms. Lesch-Nyhan syndrome is a disorder characterized by hyperuricemia, mental retardation, choreoathetosis, spasticity and self-mutilation, resulting from complete deficiency of the enzyme, whereas partial deficiency of the enzyme shows symptoms of milder forms more often without abnormal neurologic signs. A 7-year-old boy with normal growth and psychomotor development presented with a uric acid stone accompanied by a disproportionate increase of serum/urine uric acid level. The stone was removed by nephrolithotomy and further enzymatic study on lysed erythrocytes showed less than 1% of the normal HPRT activity. After initiation of treatment with allopurinol, the uric acid level was rapidly decreased to a normal range and the patient has not shown hyperuricemia or nephropathy since. Although partial HPRT deficiency is not commonly seen, this possibility should be considered whenever urolithiasis is accompanied by disproportionately high levels of serum uric acid.

Schinzel-Giedion syndrome is a rare, distinct dysmorphic syndrome characterized by congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation, likely to be inherited as an autosomal recessive trait, but not yet confirmed. This syndrome is characterized by coarse facial features such as midfacial retraction, bulging forehead, short nose with anteverted nostrils, low-set malformed ears, protruding large tongue, and hypertelorism. Skeletal and limb defects, choanal stenosis, simian creases, hypospadias, microphallus, hypertrichosis, and intractable seizures are the frequently associated clinical findings. Urogenital involvement is a major component of the syndrome, and this problem sometimes is associated with nephrocalcinosis and urinary tract infection in the clinical course of the disease. We report a 22 month-old girl with Schinzel-Giedion syndrome complicated by medullary nephrocalcinosis and urinary tract infection due to Klebsiella pneumoniae. This patient had also been suffering from postnatal growth deficiency, intractable seizure, spastic tetraplegia, delayed development and severe mental retardation.
Constriction, Pathologic ; Ear ; Extremities ; Female ; Forehead ; Humans ; Hydronephrosis ; Hypertelorism ; Hypertrichosis ; Hypospadias ; Infant ; Intellectual Disability ; Klebsiella pneumoniae ; Male ; Nephrocalcinosis ; Nose ; Quadriplegia ; Seizures ; Tongue ; Urinary Tract Infections

PURPOSE: Unilateral ureteral obstruction(UUO), a well established experimental model of renal injury, gives rise to tubulointerstitial fibrosis, tubular dilatation and cellular atrophy. Angiotensin(ANG) II may take the prime role in the regulation of this response. The objectives in the current investigation were to determine whether the renal response to UUO involves the dedifferentiation of tubular epithelial cells to mesenchymal cells(expressing vimentin, V) whether the response implicates the transformation of fibroblasts to myofibroblasts(expressing alpha-smooth muscle actin, SMA), and whether these responses depend on the action of ANG II or not. METHODS: Unilateral ureteral ligation and sham operations were performed in 12 adult male Sprague-Dawley rats. An additional 18 rats received exogenous ANG II at 50 ng/min or vehicle for one week using an osmotic minipump inserted into the interscapular area. Rats were sacrificed on postoperative day seven or day 14. To know the expression of vimentin(V) and alpha-smooth muscle actin (SMA) proteins, immunohistochemical staining and Western blot assay were done. RESULTS: In immunohistochemical staining, following UUO, V-positive cells appeared markedly in the interstitium and tubular cells within dilated tubules. UUO also markedly increased alpha-SMA expression in the interstitium surrounding dilated tubules. In Western blotting, UUO increased V(five times of Sham) and alpha-SMA(2.5 times of Sham) expression. ANG II infusion increased alpha-SMA significantly(two times of control), but not V expression in Western blotting. CONCLUSION: Phenotypic transformation of fibroblasts to myofibroblasts following UUO may depend on ANG II, but dedifferentiation of tubular epithelial cells may depend on other mechanisms rather than ANG II.
Actins ; Adult ; Angiotensin II* ; Angiotensins* ; Animals ; Atrophy ; Blotting, Western ; Dilatation ; Epithelial Cells* ; Fibroblasts* ; Fibrosis ; Humans ; Ligation ; Male ; Models, Theoretical ; Myofibroblasts ; Rats* ; Rats, Sprague-Dawley ; Ureter* ; Ureteral Obstruction* ; Vimentin