Search NEL Online

Case Reports 2015; 36(5): 417-420 PubMed PMID: 26707040 Citation  Keywords:  Abnormalities, Multiple, CREB-Binding Protein:genetics, Craniofacial Abnormalities, Foot Deformities, Hand Deformities, Humans, Male, Microcephaly, Rubinstein-Taybi Syndrome:diagnosis, Thyrotropin:metabolism, Thyroxine:metabolism, Triiodothyronine:metabol.   

INTRODUCTION: Rubinstein-Taybi syndrome is a rare genetic multisystem disorder comprising motor organ dysfunction, craniofacial dysmorphism and psychomotor retardation, frequently with the abnormalities of the thyroid gland.

OBJECTIVE: Presentation of a case of a 19-year-old patient with Rubinstein-Taybi syndrome in whom serum TSH, fT3 and fT4 levels were assessed.

CASE: Craniofacial abnormalities including: microcephaly, underdeveloped maxilla, micrognathia, high arched palate, malocclusion, down-slanting palpebral fissures, thick eyelashes and full eyebrows. Clinodactyly, broad thumbs and toes were observed in the musculoskeletal system. The patient presented with moderate mental retardation, short stature and obesity. Furthermore, I° thoracolumbar scoliosis, elbow joint deformation resulting from the radial head dislocation and limitation of the right hip motion as a consequence of Perthes disease were found. Genetic testing revealed a mutation affecting the CREBBP gene located on the short arm of chromosome 16. The measured serum TSH level was 1.510 μlU/ml (normal range 0.27-4.20), fT3 5.1 pmol/l (normal range 4.1-6.7), fT4 15.5 pmol/l (normal range 13.1-21.3). The patient is subjected to long-term rehabilitation.

CONCLUSIONS: The obtained results of laboratory tests of serum TSH, fT3 and fT4 levels point to a lack of thyroid gland dysfunction in the patient with Rubinstein-Taybi syndrome. Rehabilitation treatment of patients with RTS is necessary to improve the patient's mobility....

Read abstract  Full text PDF

Case Reports 2015; 36(5): 414-416 PubMed PMID: 26707039 Citation  Keywords:  Aged, Amyotrophic Lateral Sclerosis:genetics, Diabetes Mellitus:genetics, Female, Humans, Mutation, Superoxide Dismutase:genetics, Superoxide Dismutase-1,.   

: Familial amyotrophic lateral sclerosis (ALS) are caused by the mutations in the copper (Cu) / zinc (Zn) superoxide dismutase 1 (SOD1) gene. SOD1 has been reported to play a critical role in glucose metabolism in yeast and cell models, and mice. However, effects of SOD1 for glucose metabolism in humans remain unknown. A 72-year-old woman was admitted to our hospital due to hyperglycemia. She showed severe muscle atrophy and visceral fat accumulation due to ALS. Her serum free fatty acids levels elevated and serum Cu and Zn levels decreased. Her two younger brothers and aunt were also diagnosed as having ALS, and DNA sequence analysis revealed the presence of the I113T SOD1 mutation. She may have developed diabetes due to SOD1 dysfunction by the I113T SOD1 mutation, and severe insulin resistance induced by ALS. The I113T SOD1 mutation may be the causative factor for diabetes as well as familial ALS....

Read abstract  Full text PDF

Journal Article 2015; 36(4): 380-386 PubMed PMID: 26454495 Citation  Keywords:  Animals, Chick Embryo:growth & development, Chickens:growth & development, Embryonic Development:genetics, Gene Expression Regulation, Developmental:genetics, Hedgehog Proteins:metabolism, Neuroepithelial Cells:physiology, Spinal Cord:growth & development.   

OBJECTIVE: Sonic hedgehog(SHH) is early expressed in the floor plate and notochord during the development of chicken embryo, which is required for the establishment of dorsal axis and the formation of spinal cord, but the mechanism of SHH affecting the patterns of spinal development is still unclear.

METHODS: In this study using in vivo electroporation ectopic expression of SHH in spinal cord of dorsal regions during chicken embryo development. Besides, the expression of NF, TAG, Pax-7 and N-Cadherin was examined by the fluorescent immunohistochemistry.

RESULTS: The result showed that the pattern of spinal cord development changed such as the distortion was observed during the chicken embryo development, and the location of dorsal root transforms from the original site to the roof plate, and neuroepithelial cell layer at the roof plate creased. Furthermore, the expression of nuclear protein Pax-7 was inhibited at the site of SHH ectopic and the expression site of neurofilament(NF) and TAG-1 changed, while the expression of SC-1 was down-regulated.

CONCLUSIONS: This study demonstrated that SHH may be directly required for the formation of spinal patterns or affect the formation of spinal cord through regulating the associated proteins and more important is SHH promote the neuroepithelial cells proliferation and then lead to neural plate to form the neural tube. This study could provide reliable references for the research on SHH determining the formation of spinal cord during the development of chicken embryo....

Read abstract  Full text PDF

Journal Article 2015; 36(4): 354-362 PubMed PMID: 26454491 Citation  Keywords:  Adult, Age Factors, Age of Onset, Antidepressive Agents:therapeutic use, Anxiety:psychology, Cognitive Therapy, Combined Modality Therapy, Depressive Disorder, Major:psychology, Depressive Disorder, Treatment-Resistant:psychology, Female, Humans, Male, Mi.   

OBJECTIVE: Treatment of major depressive disorder can be affected by a broad range of factors. In our study, we focused on the relationships of demographic, psychological, clinical and social factors to the course of treatment of depression.

METHOD: The study included 151 patients (finally 140 patients were evaluated) hospitalized for major depressive disorder. They were assessed for demographic characteristics, the rates of depression and anxiety, quality of life, the rates of dissociation and insomnia, and subjective and objective disease severity at different times during treatment. Patients were treated with standard doses of antidepressants or other psychiatric medication. They also completed a 6-week long daily cognitive-behavioural therapy. Data were statistically analyzed.

RESULTS: There were significant decreases in the overall severity of the disorder, anxiety level and depression rate during treatment. Improvement measured by objective Clinical Global Impression (oCGI-I) at the end of treatment was not significantly correlated with any of the measured parameters (age of patient, onset of illness, duration of disease, doses of medication etc.). It only significantly positively correlated with the initial evaluation of the patient by oCGI. However, the improvement in subjective assessment (using sCGI-I) correlated with many parameters (increased age, later onset of the disease, greater disease severity at baseline in both overall and subjective evaluation of the severity, anxiety and depressive symptomatology). Furthermore, it was negatively correlated with most quality of life parameters, such as H (Home), F (Feelings), L (Leisure), Sr (Social relations) and G (General).

CONCLUSIONS: The results suggest that individual variables, such as the degree of psychopathology, particularly depression and anxiety, most quality of life parameters, higher patient age and age of disorder onset may be associated with poorer subjective response to complex treatment of patients with major depressive disorder....

Read abstract  Full text PDF

Journal Article 2015; 36(3): 262-268 PubMed PMID: 26313394 Citation  Keywords:  China:epidemiology, Humans, Ischemic Attack, Transient:epidemiology, Severity of Illness Index, Stroke:diagnosis,.   

OBJECTIVES: The ABCD2 score has been commonly used to triage patients with transient ischemic attack (TIA) who are at high risk for imminent stroke. However, its accuracy in predicting short-term stroke risk among TIA patients in China remains unclear.

METHODS: All eligible studies published up to May 2014 were identified by searching Medline, PubMed, Embase, the China Knowledge Resource Integrated Database (CNKI) and the China Biological Medicine Database (CBM-disc), as well as unpublished articles manually scanned. The strength of the associations between treatments and outcomes was estimated by incorporated risk ratios (RRs) and 95% confidence intervals (CIs) using the Mantel-Haenszel statistical method.

RESULTS: Eight and 32 studies, which validated the value for predicting the risk of stroke 2 and 7 days after TIA respectively, were included. We calculated the RRs and CIs for 2- and 7-day prediction for stroke (low: RR=0.43, 95% CI=0.17-1.10, I2=0%; moderate: RR=0.42, 95% CI=0.26-0.67, I2=0%; high: RR=0.32, 95% CI=0.21-0.48, I2=0%; and low: RR=0.29, 95% CI=0.20-0.44, I2=0%; moderate: RR=0.27, 95% CI=0.23-0.33, I2=0%; high: RR=0.22, 95% CI=0.18-0.27, I2=1%).

CONCLUSIONS: This meta-analysis indicated that the ABCD2 score may highly under-predict the short-term occurrence of stroke after TIA for the Chinese population compared with the original model derived from Caucasian populations, which may lead to neglect of the short-term risk for stroke in the clinical practice....

Read abstract  Full text PDF

Journal Article 2015; 36(3): 257-261 PubMed PMID: 26313393 Citation  Keywords:  Adult, Cervical Ripening:drug effects, Delivery, Obstetric:methods, Dinoprostone:administration & dosage, Female, Humans, Outcome Assessment (Health Care), Oxytocics:administration & dosage, Pregnancy, Urinary Catheterization:instrumentation,.   

OBJECTIVE: The aim was to evaluate which of the two analyzed methods of preinduction: intracervical Foley catether and intracervical dinoprostone is related to higher rate of successful vaginal delivery in shorter time and to shorter hospitalization after the delivery.

DESIGN: A retrospective analysis of 198 patients with unfavorable cervix for labor induction (Bishop score ≤ 6), hospitalized at 1st Department of Obstetrics and Gynecology, Medical University of Warsaw, was carried out. In 105 patients labor preinduction was conducted with Foley catheter (study group) and in 93 with intracervical dinoprostone (control group).

RESULTS: There were no significant differences regarding patients' age, body mass index (BMI), weight gain during the pregnancy, duration of pregnancy and parity between the groups. 68.6% of patients in the study group and 65.6% in the control group delivered vaginally (p=0.65). In the study group significantly less women developed spontaneous onset of labor (36.2% vs 66.7%; p<0.001). The time from preinduction to delivery onset and from preinduction to vaginal delivery were longer in the study group (780 min vs 489 min; 1682 min vs 920 min; p<0.001). The time of hospitalization after the delivery was significantly shorter in the study group (4.1 days vs 6.8; (p<0.001).

CONCLUSION: Both Foley catheter and dinoprostone seem to be equally effective in achieving vaginal delivery. In terms of time effectiveness Foley catheter preinduction is related to longer time from preinduction to delivery, nevertheless shorter time of hospitalization....

Read abstract  Full text PDF

Journal Article 2015; 36(3): 246-256 PubMed PMID: 26313392 Citation  Keywords:  Animals, Cerebellar Ataxia:chemically induced, Disease Models, Animal, Immunity, Cellular:immunology, Immunity, Humoral:immunology, Male, Rats, Rats, Sprague-Dawley,.   

OBJECTIVE: We previously showed that the cerebellum modulates the immune system. Here we determined whether cerebellar ataxia alters immunological function to further demonstrate an involvement of the cerebellum in immune modulation.

METHODS: Neurotoxin 3-acetylpyridine (3-AP) was intraperitoneally injected in rats to induce cerebellar ataxia. Behavior and motor coordination were tested on day 7 following 3-AP injection. Nissl staining and high-performance liquid chromatography (HPLC) were used to determine neuronal loss and neurotransmitter contents, respectively, in all the three cerebellar nuclei, fastigial nucleus (FN), interposed nucleus (IN) and dentate nucleus (DN). T and B lymphocyte differentiation and function were measured by flow cytometry, Western blot and ELISA.

RESULTS: 3-AP induced motor discoordination and locomotor reduction. In all the three cerebellar nuclei, FN, IN and DN, there was a neuronal loss and a decrease in contents of glutamate and GABA (but not glycine) after 3-AP injection. Importantly, CD4+ T cells, but not CD8+ T cells, were increased by the 3-AP treatment. Moreover, interferon (IFN)-γ-producing cells and interleukin (IL)-17-producing cells were decreased in cerebellar ataxia rats, but IL-4-producing cells and CD25-expressing cells were increased. Expression of the T helper (Th)1- and Th17-related cytokines, IFN-γ, IL-2, IL-17 and IL-22, was downregulated in CD4+ cells in cerebellar ataxia rats, while expression of the Th2 and regulatory T (Treg)-related cytokines, IL-4, IL-5, IL-10 and transforming growth factor (TGF)-β, was upregulated. Furthermore, B lymphocyte number and anti-bovine serum albumin (BSA) IgM and IgG antibody levels were elevated in cerebellar ataxia.

CONCLUSION: Cerebellar ataxia alters cellular and humoral immunity....

Read abstract  Full text PDF

Case Reports 2015; 36(3): 236-240 PubMed PMID: 26313389 Citation  Keywords:  Adolescent, Carney Complex:diagnosis, Cushing Syndrome:diagnosis, Humans, Male,.   

: Cardiac tumors in infants and children are rare. Myxomas are the second (after rhabdomyomas) most common primary cardiac tumors in pediatric patients. Cardiac, cutaneous and mucous myxomas are likewise the second most frequent manifestation of the Carney complex, an autosomal dominant multi neoplasia syndrome, which consists of myxomas in different locations, spotty skin pigmentation and endocrine overactivity. We present a case of 13-years-old boy send to our department from a district hospital because of the large tumor in the right atrium discovered in the echo study. On admission he presented discrete signs of Cushing's syndrome and scarse pigmented nevi on the face and trunc. The detailed echo examination showed the large right atrial tumor with features of myxoma, protruding across the tricuspid valve into the right ventricle during diastolic period. Atypical location of cardiac myxoma as well as the signs of Cushing's syndrome suggested Carney's complex. Detailed endocrine studies confirmed the hypothesis. Thus two-step bilateral adrenalectomy was planned. The histopathologic study confirmed primary pigmented nodular adrenocortical disease....

Read abstract  Full text PDF