Vol. 37 (4) 2016 Neuro endocrinology letters

LGMD2D syndrome: the importance of clinical and molecular genetics in patient and family management. Case Report.

Al-Harbi K, Abdallah A.

Case Reports 2016; 37(4): 277-281 PubMed PMID: 27857043 Citation  Keywords:  Child, Computer Simulation, Consanguinity, DNA Mutational Analysis, Female, Genetic Testing, Heterozygote, Homozygote, Humans, Molecular Biology, Parents, Pedigree, Sarcoglycanopathies:genetics, Sarcoglycans:genetics, Saudi Arabia, Siblings,.

: We report the case of a seven-year-old female from a consanguineous Saudi family with autosomal recessive limb girdle muscular dystrophy type 2D (LGMD2D) most likely caused by a rare SGCA mutation. Histopathological and molecular investigations resulted in the discovery of a homozygous mutation (c.226 C>T (p.L76 F)) in exon 3 of SGCA .....

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Permanent atrial fibrillation in heart failure patients as another condition with increased reverse triiodothyronine concentration.

Jakowczuk M, Zalas D, Owecki M.
Journal Article 2016; 37(4): 337-342 PubMed PMID: 27857052 Citation  Keywords:  Aged, Aged, 80 and over, Atrial Fibrillation:blood, Case-Control Studies, Cohort Studies, Female, Heart Failure:blood, Humans, Hyperthyroidism:blood, Hypothyroidism:blood, Male, Middle Aged, ROC Curve, Thyroid Function Tests, Thyrotropin:blood, Thyroxine:.

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Elevation of the ACTH/cortisol ratio in female opioid dependent patients: A biomarker of aging and correlate of metabolic and immune activation.

Reece A, Hulse G.
Journal Article 2016; 37(4): 325-336 PubMed PMID: 27857051 Citation  Keywords:  Adrenocorticotropic Hormone:metabolism, Adult, Aging:metabolism, Alanine Transaminase:metabolism, Biomarkers:metabolism, C-Reactive Protein:metabolism, Case-Control Studies, Cross-Sectional Studies, Female, Hepatitis C, Chronic:immunology, Humans, Hydroco.

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Sleep-disordered breathing and excessive daytime sleepiness in patients with epilepsy - a polysomnographic study.

Klobucnikova K, Siarnik P, Sivakova M, Kollar B.
Journal Article 2016; 37(4): 313-317 PubMed PMID: 27857049 Citation  Keywords:  Adult, Aged, Disorders of Excessive Somnolence:complications, Epilepsy:complications, Female, Humans, Male, Middle Aged, Polysomnography, Sleep Apnea Syndromes:complications, Sleep Deprivation:complications, Sleep Stages, Sleep, REM,.

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Myocardial scarring after repair of anomalous origin of the left coronary artery from pulmonary artery.

Jurko A, Mistinova Polakova J, Jurko A, Jurko T, Minarik M, Tonhajzerova I.
Journal Article 2016; 37(4): 308-312 PubMed PMID: 27857048 Citation  Keywords:  Cardiac Surgical Procedures, Child, Child, Preschool, Cicatrix:diagnostic imaging, Coronary Vessel Anomalies:surgery, Echocardiography, Female, Fibrosis, Humans, Infant, Magnetic Resonance Imaging, Male, Myocardium:pathology, Postoperative Complications:d.

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Women's fertility after laparoscopic cystectomy of endometrioma and other benign ovarian tumors - a 24-month follow-up retrospective study.

Kostrzewa M, Stachowiak G, Zyła M, Kolasa-Zwierzchowska D, Szpakowski A, Nowak M, Wilczynski J.
Journal Article 2016; 37(4): 295-300 PubMed PMID: 27857046 Citation  Keywords:  Adolescent, Adult, Case-Control Studies, Endometriosis:surgery, Female, Fertility, Follow-Up Studies, Humans, Laparoscopy, Ovarian Cysts:surgery, Ovarian Diseases:complications, Ovarian Neoplasms:surgery, Peritoneal Diseases:complications, Pregnancy, Preg.

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Long term pharmacotherapy by methylfenidate or atomoxetine DAT 1 10/10 ADHD children in correlation with results of the imaging methods.

Pribilova N, Paclt I, Kollarova P, Kohoutova M, Dezortova M, Hajek M, Csemy L.
Journal Article 2016; 37(4): 289-294 PubMed PMID: 27857045 Citation  Keywords:  Adolescent, Adrenergic Uptake Inhibitors:therapeutic use, Atomoxetine Hydrochloride:therapeutic use, Attention Deficit Disorder with Hyperactivity:diagnostic imaging, Brain:diagnostic imaging, Central Nervous System Stimulants:therapeutic use, Dopamine Pl.

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The impact of the d3-growth hormone receptor (d3-GHR) polymorphism on the therapeutic effect of growth hormone replacement in children with idiopathic growth hormone deficiency in Poland.

Szmit-Domagalska J, Petriczko E, Drozdzynska M, Adler G, Horodnicka-Jozwa A, Ciechanowicz A, Walczak M.
Journal Article 2016; 37(4): 282-288 PubMed PMID: 27857044 Citation  Keywords:  Case-Control Studies, Child, Exons, Female, Genotype, Growth Disorders:drug therapy, Growth Hormone:therapeutic use, Hormone Replacement Therapy:methods, Human Growth Hormone:deficiency, Humans, Infant, Newborn, Male, Poland, Polymorphism, Genetic, Recept.

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Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: Case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis.

Hubacek M, Kripnerova T, Nemcikova M, Krepelová A, Puchmajerova A, Malikova M, Havlovicová M, Cadova J, Kodet R, Macek M, Dostalova T.
Case Reports 2016; 37(4): 269-276 PubMed PMID: 27857042 Citation  Keywords:  Adolescent, Anodontia:diagnostic imaging, Basal Cell Nevus Syndrome:complications, Child, Child, Preschool, Cohort Studies, Czech Republic, Early Diagnosis, Female, Gene Duplication, Humans, Imaging, Three-Dimensional, Infant, Jaw:diagnostic imaging, Male.

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