Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 43
Filter
1.
Zhonghua Er Ke Za Zhi ; 56(5): 373-376, 2018 May 02.
Article in Chinese | MEDLINE | ID: mdl-29783825

ABSTRACT

Objective: To expand the knowledge of the clinical and molecular characteristics of the children with Bloom syndrome. Methods: Clinical data of two siblings with classic Bloom syndrome of Shanghai Children's Medical Center from January 2009 to June 2017 were obtained and analyzed. The DNA of peripheral blood was collected from two Bloom syndrome siblings and their parents during 2015. The mutations were detected with high-throughput sequencing by Illumina sequencing platform. Results: The two siblings (probands) visited our department for short stature and growth retardation, they had full-term normal delivery after normal pregnancy of their mother. Both cases presented with feeding difficulties, malnutrition, microcephaly and mental retardation, repeated infection, symmetrical short stature and special faces. At first, the proband was an 8-year-3-month old girl, her height was 99.7 cm, body mass index (BMI) 12.07 kg/m(2), head circumference was 45.5 cm, and birth weight was 1.6 kg. Her younger brother was 3-year-11-month old, his height was 86.6 cm, BMI was 14 kg/m(2), birth weight was 1.95 kg, and the head circumference reached 36 cm at 16 months. No evidence of cancer and characteristic rash was detected at 8-year follow-up. Pathogenic complex heterozygous mutations c.772_773delCT, p.Leu258Glufs*7 and c.959+ 2T>A in BLM gene were detected in both siblings, which were separately inherited from their unaffected parents. Besides , c.959 + 2T>A has not been reported previously. Conclusions: Children with Bloom syndrome are characterized by short stature, microcephaly, special faces, feeding difficulties, and immunodeficiency. And butterfly erythematous rash may be absent. The c.959+2T>A mutation detected in our patients maybe a novel pathogenic mutation.


Subject(s)
Bloom Syndrome , Microcephaly , Bloom Syndrome/complications , Bloom Syndrome/genetics , Child , China , Female , Heterozygote , Humans , Immune System Diseases/etiology , Male , Malnutrition , Microcephaly/etiology , Pregnancy , Siblings
3.
Acta Neurochir (Wien) ; 150(4): 399-402; discussion 402, 2008 Apr.
Article in English | MEDLINE | ID: mdl-18297229

ABSTRACT

Klippel-Trenaunay syndrome (KTS) a rare mesodermal phakomatosis consisting of capillary malformations, varicose veins, and limb hypertrophy, often associated with vascular malformations and benign tumours. A 33-year-old male presented with headaches secondary to a previously diagnosed intracranial tumour. He had a large blanching port-wine stain and hypertrophy of the left side of his body and limbs partial syndactyly of the 2(nd) and 3(rd) digits in all four extremities. The lesion was surgically resected and histology showed a Haemangiopericytoma. Thus KTS may be associated with intracranial Haemangiopericytomas, a malignant vascular tumour.


Subject(s)
Dura Mater , Hemangiopericytoma/diagnosis , Klippel-Trenaunay-Weber Syndrome/diagnosis , Meningeal Neoplasms/diagnosis , Adult , Combined Modality Therapy , Dura Mater/pathology , Hemangiopericytoma/pathology , Hemangiopericytoma/therapy , Humans , Klippel-Trenaunay-Weber Syndrome/pathology , Klippel-Trenaunay-Weber Syndrome/therapy , Magnetic Resonance Imaging , Male , Meningeal Neoplasms/pathology , Meningeal Neoplasms/therapy , Nerve Compression Syndromes/diagnosis , Nerve Compression Syndromes/pathology , Nerve Compression Syndromes/therapy , Neurologic Examination , Optic Nerve Diseases/diagnosis , Optic Nerve Diseases/pathology , Optic Nerve Diseases/surgery , Tomography, X-Ray Computed
5.
Br J Dermatol ; 148(2): 236-45, 2003 Feb.
Article in English | MEDLINE | ID: mdl-12588374

ABSTRACT

BACKGROUND: Placental extracts have been used as Chinese folk medicines to accelerate wound healing. However, the molecular mechanism of placental extracts on wound healing has not been identified. It is known that fibroblast growth factors (FGF) and transforming growth factors (TGF) are two key factors involved in wound healing. OBJECTIVES: To determine the molecular mechanism of placental extracts on wound healing. METHODS: The protein levels of both growth factors in rat skins with thermal injury were therefore studied to explore the molecular mechanism of placental extracts on wound healing. As cell proliferation is essential for wound healing, effects of placental extracts on fibroblast proliferation were also determined. RESULTS: As compared with the controls, the S phase of fibroblasts was significantly increased by 1.5-, 1.7- and 4.7-fold for 1, 10 and 30 mg mL(-1) of placental extracts, respectively. The increase of the S phase was not due to the minute amount of sex hormones in the placental extracts as the addition of equivalent amounts of hormones showed no increase of the S phase. In addition, a 2.5-fold increase of TGF-beta1 in wound skin biopsy was noticed with 30 mg mL(-1) of porcine placental extracts. The FGF levels in the wound skin receiving 30 mg mL(-1) of porcine placental extracts were also significantly increased compared with the controls. CONCLUSIONS: These ex vivo data support the observation that the application of 30 mg mL(-1) of placental extracts reduced the wound healing time by about 50%. To the best of our knowledge, this is the first report to explore the molecular mechanisms of porcine placental extracts on wound healing. These results may provide the insight into the potential use of porcine placental extracts as an alternative medicine for accelerating wound healing.


Subject(s)
Placental Extracts/pharmacology , Wound Healing/drug effects , 3T3 Cells , Animals , Burns/metabolism , Cell Division/drug effects , Enzyme-Linked Immunosorbent Assay , Estradiol/pharmacology , Fibroblast Growth Factors/analysis , Fibroblasts/drug effects , Male , Mice , Progesterone/pharmacology , Rats , Rats, Sprague-Dawley , Swine , Transforming Growth Factor beta/analysis
6.
Neurology ; 57(3): 545-8, 2001 Aug 14.
Article in English | MEDLINE | ID: mdl-11502934

ABSTRACT

Of 23 cases with cysticercal visual loss, 13 had optic neuropathy (due largely to papilledema), 4 sustained chiasmal damage, and 6 had retrochiasmal lesions. Papilledema usually was associated with hydrocephalus, chiasmal involvement was caused by inflammation and compression from adjacent cysts, and retrochiasmal damage was produced by large parenchymal cysts or vasculitic cerebral infarction.


Subject(s)
Neurocysticercosis/physiopathology , Vision Disorders/physiopathology , Adult , Humans , Magnetic Resonance Imaging , Neurocysticercosis/complications , Neurocysticercosis/pathology , Optic Chiasm/pathology , Optic Chiasm/physiopathology , Optic Nerve/pathology , Optic Nerve/physiopathology , Vision Disorders/etiology , Vision Disorders/pathology
7.
Eur J Neurol ; 8(3): 267-8, 2001 May.
Article in English | MEDLINE | ID: mdl-11328336

ABSTRACT

A 56-year-old man without a previous history of stroke received intravenous recombinant tissue plasminogen activator (tPA) for an evolving myocardial infarction. During the infusion, the patient developed aphasia and right hemiparesis. The CT and MRI confirmed an ischemic stroke without evidence of hemorrhage. Although the cerebral hemorrhage after tPA infusion is relatively more common, in rare cases, tPA infusion may result in fragmentation of a cardiac thrombus resulting in an ischemic cerebral stroke.


Subject(s)
Brain Ischemia/chemically induced , Fibrinolytic Agents/adverse effects , Myocardial Infarction/drug therapy , Stroke/chemically induced , Tissue Plasminogen Activator/adverse effects , Fibrinolytic Agents/therapeutic use , Humans , Injections, Intravenous , Magnetic Resonance Imaging , Male , Middle Aged , Stroke/diagnosis , Tissue Plasminogen Activator/therapeutic use , Tomography, X-Ray Computed
8.
Life Sci ; 70(6): 669-79, 2001 Dec 28.
Article in English | MEDLINE | ID: mdl-11833717

ABSTRACT

After percutaneous transluminal coronary angioplasty (PTCA), 30-50% of the patients may present with restenosis within 6 months. The aim of this study was to search for a preventive remedy against the balloon injury-induced neointima formation. Ginseng, with its wide indications on immune and cardiovascular functions, has prompted us to explore its role in neointima formation. In the present study, we aimed to explore if a standardized Panax Ginseng extract G115 was able to inhibit neointimal formation. With BrdU luminencence assay, maximal proliferation of rat smooth muscle cells was reduced to 24% of control values by G115. Norepinephrine-induced vasocontraction was antagonized in 21% and 44% by 1.44mg/ml and 2.88mg/ml of G115, respectively. Neointima-to-lumen area ratio of balloon-injured rat carotid arteries was reduced 77.3% by G115 as compared to the sham control. These results demonstrate the preventive effects of ginsenosides on angioplasty-mediated neointima formation.


Subject(s)
Coronary Restenosis/prevention & control , Hypolipidemic Agents/therapeutic use , Saponins/therapeutic use , Tunica Intima/drug effects , Angioplasty, Balloon, Coronary , Animals , Aorta, Thoracic/drug effects , Aorta, Thoracic/pathology , Cell Division/drug effects , Cells, Cultured , Chromatography, High Pressure Liquid , Disease Models, Animal , Dose-Response Relationship, Drug , Ginsenosides , Immunoassay , In Vitro Techniques , Muscle Contraction/drug effects , Muscle, Smooth, Vascular/cytology , Muscle, Smooth, Vascular/drug effects , Muscle, Smooth, Vascular/physiology , Norepinephrine/pharmacology , Panax , Rats , Rats, Sprague-Dawley , Tunica Intima/pathology
11.
J Appl Physiol (1985) ; 89(1): 364-72, 2000 Jul.
Article in English | MEDLINE | ID: mdl-10904073

ABSTRACT

Positive airway pressure (Paw) during high-frequency oscillatory ventilation (HFOV) increases lung volume and can lead to lung overdistention with potentially serious adverse effects. To date, no method is available to monitor changes in lung volume (DeltaVL) in HFOV-treated infants to avoid overdistention. In five newborn piglets (6-15 days old, 2.2-4.2 kg), we investigated the use of direct current-coupled respiratory inductive plethysmography (RIP) for this purpose by evaluating it against whole body plethysmography. Animals were instrumented, fitted with RIP bands, paralyzed, sedated, and placed in the plethysmograph. RIP and plethysmography were simultaneously calibrated, and HFOV was instituted at varying Paw settings before (6-14 cmH(2)O) and after (10-24 cmH(2)O) repeated warm saline lung lavage to induce experimental surfactant deficiency. Estimates of Delta VL from both methods were in good agreement, both transiently and in the steady state. Maximal changes in lung volume (Delta VL(max)) from all piglets were highly correlated with Delta VL measured by RIP (in ml) = 1.01 x changes measured by whole body plethysmography - 0.35; r(2) = 0.95. Accuracy of RIP was unchanged after lavage. Effective respiratory system compliance (Ceff) decreased after lavage, yet it exhibited similar sigmoidal dependence on Delta VL(max) pre- and postlavage. A decrease in Ceff (relative to the previous Paw setting) as Delta VL(max) was methodically increased from low to high Paw provided a quantitative method for detecting lung overdistention. We conclude that RIP offers a noninvasive and clinically applicable method for accurately estimating lung recruitment during HFOV. Consequently, RIP allows the detection of lung overdistention and selection of optimal HFOV from derived Ceff data.


Subject(s)
High-Frequency Ventilation/adverse effects , Lung/physiopathology , Respiratory Distress Syndrome, Newborn/therapy , Animals , Animals, Newborn , Humans , Infant, Newborn , Lung/blood supply , Lung Volume Measurements , Plethysmography , Pulmonary Surfactants/physiology , Respiratory Mechanics/physiology , Swine
14.
Neurology ; 54(3): 774; author reply 774-5, 2000 Feb 08.
Article in English | MEDLINE | ID: mdl-10680830
17.
Neurology ; 52(3): 646-8, 1999 Feb.
Article in English | MEDLINE | ID: mdl-10025807

ABSTRACT

Eight older women from two different continents, all with nonketotic hyperglycemia, presented with hemiballismus-hemichorea (HB-HC) and high signal intensity in the contralateral striatum on T1-weighted MRI scans. Correction of underlying hyperglycemia and supportive care resulted in resolution within days to weeks. This characteristic clinicoradiologic picture suggests a clinical syndrome with benign outcome.


Subject(s)
Brain/pathology , Chorea/pathology , Diabetes Complications , Movement Disorders/pathology , Aged , Aged, 80 and over , Chorea/complications , Female , Humans , Korea , Magnetic Resonance Imaging , Middle Aged , Movement Disorders/complications , United States
19.
Neurology ; 51(4): 1018-25, 1998 Oct.
Article in English | MEDLINE | ID: mdl-9781523

ABSTRACT

OBJECTIVE: We report the results of a double-blind, double-dummy, active-control study designed to evaluate the efficacy and safety of lamotrigine (LTG) administered as monotherapy to adult outpatients with partial seizures. BACKGROUND: The effectiveness of LTG as add-on therapy for partial seizures in adults has previously been established. METHODS: After an 8-week baseline during which patients continued their baseline antiepileptic drug (carbamazepine or phenytoin monotherapy), 156 patients were randomly assigned to receive increasing doses of LTG (target 250 mg b.i.d.) or valproic acid (VPA; target low dose of 500 mg b.i.d.) during the first 4 weeks of an 8-week transition period. Carbamazepine or phenytoin was withdrawn over the next 4 weeks; then patients entered a 12-week monotherapy period. Study drug treatment was discontinued in patients who met predetermined escape criteria for seizure worsening. RESULTS: More patients receiving LTG were successfully maintained on monotherapy compared with patients receiving VPA (56% versus 20%; p < 0.001). The time to meet the escape criteria was also significantly longer in LTG-treated patients (median = 168 days) than in VPA-treated patients (median = 57 days; p = 0.001). The incidence of adverse events during the monotherapy period was lower than during the transition period. Four LTG patients and five VPA patients reported serious adverse events. Two of those patients experienced a rash that led to withdrawal soon after adding LTG to carbamazepine. CONCLUSIONS: We conclude that LTG is effective and well tolerated when administered as monotherapy in adult patients with partial seizures.


Subject(s)
Anticonvulsants/administration & dosage , Epilepsies, Partial/drug therapy , Triazines/administration & dosage , Adolescent , Adult , Aged , Anticonvulsants/adverse effects , Anticonvulsants/blood , Carbamazepine/administration & dosage , Double-Blind Method , Exanthema/chemically induced , Female , Humans , Hydrogen Peroxide , Lamotrigine , Male , Middle Aged , Phenytoin/administration & dosage , Triazines/adverse effects , Triazines/blood , Valproic Acid/administration & dosage
20.
Eur Neurol ; 39(4): 200-3, 1998.
Article in English | MEDLINE | ID: mdl-9635469

ABSTRACT

We present 3 cases of hemiageusia due to focal ischemic lesions in the brainstem. Clinical presentation with discrete localization of these lesions suggests that the central taste pathway in humans projects ipsilaterally from the solitary nucleus up to the level of the upper pontine or lower midbrain before decussation. Associated partial sensory disturbance of the face or limb with lack of evidence of medial lemniscus decussation at the upper brainstem suggests that the medial lemniscus may not directly convey taste sensation.


Subject(s)
Ageusia/diagnosis , Brain Stem/blood supply , Ischemic Attack, Transient/pathology , Magnetic Resonance Imaging , Ageusia/etiology , Female , Humans , Ischemic Attack, Transient/complications , Male , Mesencephalon/pathology , Middle Aged
SELECTION OF CITATIONS
SEARCH DETAIL
...