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Journal Article 2014; 35(5): 367-372 PubMed PMID: 25275261 Citation  Keywords:  Adult, Apgar Score, Female, Humans, Infant, Newborn, Poland, Pregnancy, Pregnancy Outcome, Prenatal Exposure Delayed Effects:drug therapy, Vitamin D:administration & dosage, Vitamin D Deficiency:drug therapy, Vitamins:administration & dosage, Young Adult,.   

OBJECTIVE: Pregnancy increases the demand for vitamins, including vitamin D. Data on effects of vitamin D deficiency for pregnant woman and fetus available in Poland are scarce. The aim of this study was to evaluate vitamin D3 concentration in pregnant women and its influence on pregnancy course, health of pregnant women and their offspring.r />r /> PATIENTS AND METHODS: The study included 102 healthy pregnant women, aged 21 to 40 years, mean 30.5±4.9 years. Women were divided into three groups based on 25(OH)D serum concentration in the third trimester of pregnancy: Group I - with sufficient 25(OH)D serum concentration (>30 ng/ml), Group II - with vitamin D3 insufficiency (20-30 ng/ml), Group III - with serious vitamin D deficiency (<20 ng/ml).r />r /> RESULTS: Optimal vitamin D concentrations were found only in 31.2% of women, however in winter months only in 16%. Bacterial vaginosis was significantly more common in women with vitamin D deficiency and insufficiency (p<0.05). In contrast, there were no relations between vitamin D status and the incidence of gestational diabetes, preeclampsia, mode of delivery and size of newborns. A relationship between vitamin D deficiency and insufficiency during pregnancy and subsequent incidence of respiratory infections in children (p<0.05) was demonstrated.r />r /> CONCLUSIONS: 1. The current model of vitamin D supplementation in pregnant women in Poland is insufficient, particularly in winter. 2. Vitamin D deficiency in pregnant women fosters development of bacterial vaginosis during pregnancy and recurrent respiratory infections in children, suggestive of the role of vitamin D in prevention of infections....

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Journal Article 2014; 35(5): 385-392 PubMed PMID: 25275260 Citation  Keywords:  Animals, Basolateral Nuclear Complex:cytology, Dopamine:metabolism, Dopamine Agents:metabolism, Dopamine Antagonists:pharmacology, Dopaminergic Neurons:physiology, Excitatory Postsynaptic Potentials:drug effects, Male, Organ Culture Techniques, Presynapti.   

OBJECTIVES: Dopaminergic signaling in the basolateral amygdala (BLA) is important for emotion-related activity. However, little is known about the influence of dopamine (DA) on excitatory synaptic transmission of pyramidal neurons in BLA at early developmental stage. Here in this study, we observed the effect of DA on excitatory neurotransmission in the pyramidal cells of BLA in acute slices.r />r /> METHODS: Acute slices from amygdala of rats at the age of 14-16 days were prepared and maintained in vitro using standard method. Whole-cell patch clamp recordings were performed to examine the evoked excitatory postsynaptic current (eEPSC), spontaneous excitatory postsynaptic current (sEPSC) and miniature excitatory postsynaptic current (mEPSC). Drugs including DA and synaptic blockers were added in recording solution due to different experimental designs.r />r /> RESULTS: We found that bath application of DA at a concentration of 100 μM significantly inhibited the amplitude of evoked EPSC. However, the amplitude and frequency of mEPSC were not affected. We also found increased pair pulse facilitation after DA application, indicating DA inhibited excitatory neurotransmission through suppression of release probability at the pre-synaptic terminals. Importantly, DA was also effective in decreasing activity induced upregulation in sEPSCs. Moreover, the DA effects were not affected by either antagonist of dopamine 1 or dopamine 2-like receptors.r />r /> CONCLUSION: We studied the effects of DA on excitatory neurotransmission and found that DA inhibited glutamatergic synaptic transmission via modulation of pre-synaptic release probability....

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Case Reports 2014; 35(5): 411-416 PubMed PMID: 25275259 Citation  Keywords:  ATP-Binding Cassette Transporters:genetics, Adolescent, Adrenal Insufficiency:diagnosis, Adrenoleukodystrophy:diagnosis, Amino Acid Sequence, Base Sequence, Brain:pathology, Cognition Disorders:diagnosis, Humans, Magnetic Resonance Imaging, Male, Middle A.   

OBJECTIVES: X-linked adrenoleukodystrophy is a genetically determined disorder that causes varying degrees of malfunction of the adrenal cortex and central nervous system. Our aim was to investigate the occurrence of known, or new, mutations in the ABCD1 gene in two unrelated patients with clinical suspicion of the adrenoleukodystrophy.r />r /> METHODS: Two unrelated patients - the first with behavioral changes, the second with progressive cognitive deficit - underwent a clinical and genetic examination in order to establish a diagnosis and discover a possible mutation.r />r /> RESULTS: In the first patient, a 47 year old man, the clinical examination showed dementia of the frontal type and spastic quadriparesis. The patient also suffered from adrenal insufficiency for 6 years. An MRI showed confluent hyperintensive lesions in FLAIR images in the frontal lobe of both hemispheres. The second patient, a 16 year old boy, suffered also from Addison's disease since the age of 9, and developed cognitive deficit in the course of one year. The MRI showed posterior atrophy and hyperintensive lesions in parietal and occipital lobes in T2WI. In both cases, genetic analyses showed a missense mutation at the codon 887 (A>G) in exon 1 of the ABCD1 gene, predicting the substitution Y296C in the ALD protein.r />r /> CONCLUSION: We detected the same mutation of the ABCD1 gene in two unrelated patients with ALD. In the first case there was frontal lobe involvement, in the second case parieto-occipital involvement. Both pathologic involvement and clinical presentation differed in two cases of the same mutation....

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Journal Article 2014; 35(5): 417-426 PubMed PMID: 25275258 Citation  Keywords:  Amygdala:metabolism, Animals, Brain:metabolism, Corticotropin-Releasing Hormone:metabolism, Dorsal Raphe Nucleus:metabolism, Fluorescent Antibody Technique, Hippocampus:metabolism, In Situ Hybridization, Locus Coeruleus:metabolism, Male, Median Eminence:m.   

OBJECTIVES: To investigate whether CRHR1 and CRHR2 are colocalized in CRH-specific neurons in rat brain.r />r /> METHODS: Double/triple immunofluorescence, and combined in situ hybridization were performed in the PVN, amygdala and hippocampus, and triple immunofluorescence was applied to the median eminence (ME), dorsal raphe (DR) and locus coeruleus (LC).r />r /> RESULTS: Both CRHR1 and CRHR2 immunoreactivity were highly coexpressed in the PVN, central nucleus of the amygdala (CeA) and hippocampus. Triple immunofluorescence under confocal microscopy confirmed that CRHR1 and CRHR2 are coexpressed in CRH-producing neurons in these regions. The results of in situ hybridization combined with double immunofluorescence further strengthened the finding that CRHR1 and CRHR2 were coexpressed in CRH-specific neurons in the PVN, CeA and hippocampus. In addition, CRH immunoreactivity signals were evidently distributed in the ME, DR and LC, and were coexpressed with both receptors.r />r /> CONCLUSION: CRH receptors colocalize in CRH-containing neurons in the PVN, CeA and hippocampus, and CRH, CRHR1, and CRHR2 coexist in the DR and LC. Our results implicate CRHR1 and CRHR2 in coordinating the regulation of CRH neuronal activity in stress and behavioral responses....

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Case Reports 2014; 35(5): 347-351 PubMed PMID: 25275257 Citation  Keywords:  Amelogenesis Imperfecta:diagnostic imaging, Child, Czech Republic, Dental Enamel:abnormalities, Family Health, Female, Humans, Male, Microscopy, Electron, Scanning, Pedigree, Radiography, Siblings,.   

: Amelogenesis imperfecta (AI) is an overarching term for a group of rare inherited disorders of hard tooth tissues. It is characterized by various defects in proper enamel formation. AI is a severe disorder that affects both the aesthetics and function of the dentition, with affected teeth increasingly suffering from dental caries. Therefore, early diagnosis and lifelong stomatological interventions are important. Due to the complex nature of AI family history, stomatological, radiographic, and molecular genetic examinations should be part of the diagnostic portfolio. Additionally, we utilized new visualization methods for the assessment of teeth demineralization. We present a case report of two affected Czech sisters (6 and 8 years old) with clinically defined AI. These are the first Czech cases in which comprehensive clinical and genetic analysis had been carried out and reflect the complex clinical nature, positive treatment options, and limitations of candidate-gene molecular genetic testing....

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Journal Article 2014; 35(5): 380-384 PubMed PMID: 25275256 Citation  Keywords:  Adolescent, Adult, Brain-Derived Neurotrophic Factor:blood, Child, Child Development Disorders, Pervasive:blood, Child, Preschool, Female, Glial Cell Line-Derived Neurotrophic Factor:blood, Humans, Male, Maternal Age, Middle Aged, Nerve Growth Factor:bloo.   

OBJECTIVES: Evaluate the levels of a neurotrophic factor and some neurotrophins in the plasma of patients with Autism Spectrum Disorders (ASD).r />r /> DESIGN: This study enrolled 30 children with ASD and 19 healthy children. Plasma levels of the neurotrophins BDNF, NGF, NT3, NT4 and of the neurotrophic factor GDNF were measured by Enzyme-Linked Immunosorbent Assay.r />r /> SETTING: The etiopathogenesis of ASD is largely unknown, but it seems to involve dysfunction in several biological systems. One of these systems comprises the neurotrophic factors, which are molecules involved in many processes in the central nervous system, including neuronal survival, synaptogenesis and synaptic plasticity. Recent studies have shown association between neurotrophic factors and ASD.r />r /> RESULTS: No differences in plasma BDNF, NGF, NT3, NT4 and GDNF were found between ASD and control. Neurotrophic factors are not altered in ASD.r />r /> CONCLUSIONS: These molecules may play a minor role in ASD....

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Case Reports 2014; 35(5): 355-358 PubMed PMID: 25275255 Citation  Keywords:  Adrenal Gland Neoplasms:complications, Female, Humans, Hypertension:diagnosis, Middle Aged, Neoplasms, Multiple Primary:complications, Paraganglioma:complications, Pheochromocytoma:complications, Stroke:diagnosis, Syndrome, Teratoma:complications,.   

OBJECTIVES: Adrenal pheochromocytomas are rare neuroendocrine tumours, however their prevalence is probably underestimated - in some series 50% were diagnosed at autopsy. The clinical presentation varies among patients, that is why diagnosis might be difficult to establish. Pheochromocytoma may coexist with paraganglioma and when paraganglioma is diagnosed, the patient should be screened for pheochromocytoma too, especially in people with hypertension. We present a case of woman with pheochromocytoma, but diagnosed after incidence of stroke, who had also paraganglioma in the past. Additionally, a teratoma was diagnosed simultaneously.r />r /> CASE REPORT: 49-year old woman with hypertension was referred to the Department of Endocrinology, Diabetology and Isotope Therapy in Wrocław with suspected pheochromocytoma. She was operated twice because of paraganglioma of the right and left carotid artery, second operation was complicated with stroke. After administration of anticoagulants a bleeding from gastrointestinal tract occurred. During diagnostic process CT of the abdomen showed tumour in the right adrenal gland and a tumour in pelvis. Significantly elevated catecholamines and their metabolites in blood and urine confirmed the diagnosis of pheochromocytoma. Both tumours were removed surgically, the second was teratoma maturum. Genetic screening for hereditary pheochromocytoma was proceeded. A mutation in SDHD gene was revealed in patient's DNA and subsequently in blood samples of her sister and daughter.r />r /> CONCLUSIONS: Occurrence of paraganglioma with hypertension suggest need of screening for pheochromocytoma-paraganglioma syndrome, especially in case of paragangliomas in family history. Early treatment is crucial to avoid life-threatening cardiovascular complications. The association between pheochromocytoma and teratoma is unclear....

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Case Reports 2014; 35(5): 342-346 PubMed PMID: 25275254 Citation  Keywords:  Adrenal Insufficiency:blood, Aged, Asymptomatic Diseases, Female, Humans, Hypopituitarism:blood, Magnetic Resonance Imaging, Pituitary Apoplexy:blood, Pituitary Gland:pathology, Thyroid Hormones:blood, Thyrotoxicosis:blood,.   

: Although pituitary function is often impaired in pituitary apoplexy, the development of thyrotoxicosis is rare. We describe an unusual case of hypopituitarism due to pituitary apoplexy coexisting with transient hyperthyroidism. A 74-year-old woman presented with severe fatigue, palpitation, appetite loss, hypotension, and hyponatremia. Endocrine studies showed hyperthyroidism and anterior pituitary hormone deficiencies. A magnetic resonance imaging suggested recent-onset pituitary apoplexy in a pituitary tumor, although the patient had no apoplectic symptoms such as headache and visual disturbance. Thyrotoxicosis and adrenal insufficiency worsened her general condition. Glucocorticoid supplementation improved her clinical symptoms and hyponatremia. Serum anti-thyrotropin receptor and thyroid-stimulating antibody titers were negative, and her thyroid function was spontaneously normalized without antithyroid medication, suggesting painless thyroiditis. Thereafter, her thyroid function decreased because of central hypothyroidism and 75 µg of levothyroxine was needed to maintain thyroid function at the euthyroid stage. The pituitary mass was surgically removed and an old hematoma was detected in the specimen. Considering that painless thyroiditis develops as a result of an autoimmune process, an immune rebound mechanism due to adrenal insufficiency probably caused painless thyroiditis. Although the most common type of thyroid disorder in pituitary apoplexy is central hypothyroidism, thyrotoxicosis caused by painless thyroiditis should be considered even if the patient has pituitary deficiencies. Because thyrotoxicosis with adrenal insufficiency poses a high risk for a life-threatening adrenal crisis, prompt diagnosis and treatment are critical....

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