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Matteo Garibaldi, Johann Böhm, Fabiana Fattori, Catherine Koch, Cecilia Surace, Pierfrancesco Ottaviani, Francesco Laschena, Jocelyn Laporte, Enrico Bertini, Giovanni Antonini, Norma B Romero
We present the clinical, morphological and molecular data of an Italian family with centronuclear myopathy, carrying a novel pathogenic mutation of BIN1 gene in heterozygous state, consistent with autosomal dominant inheritance. The proband, a 56-years-old man suffered of lower limbs myalgia and slight CK elevation. Clinical examination revealed no muscle weakness, short stature, mild symmetric eyelid ptosis, scapular winging, ankle retraction and well-developed muscles. Muscle biopsy showed nuclear centralization and clustering, deep sarcolemmal invaginations and type 1 fibers hypotrophy...
March 3, 2016: Journal of Neuromuscular Diseases
Mario Josipovic, Dorotea Bozic, Ivan Bohacek, Tomislav Smoljanovic, Ivan Bojanic
BACKGROUND: Hamate hook (HH) stress fractures are rare, often presenting with misleading symptoms and easily overlooked/misdiagnosed. These fractures occur frequently in individuals participating in sports activities involving racquets, bats, or clubs. Symptoms are non-specific and often mimic other clinical conditions, such as ulnar nerve entrapment or ulnar vessel thrombosis. CASE REPORT: A 17-year-old tennis player with no history of trauma presented with dominant hand weakness together with pain and paresthesia on the ulnar side, which exacerbated with tennis play...
November 15, 2016: Wiener Klinische Wochenschrift
David I Chu, Stephen A Zderic, Aseem R Shukla, Arun K Srinivasan, Gregory E Tasian, Dana A Weiss, Christopher J Long, Douglas A Canning, Thomas F Kolon
PURPOSE: The main indications for adolescent varicocelectomy are testicular hypotrophy or pain. However, we have previously shown that both serial total testicular volume and volume differential are weakly associated with semen quality. The ultimate patient goal is paternity, but semen analysis is critical to appropriate management of varicocele. We hypothesize that varicocelectomy improves total motile count (TMC) among patients who only have abnormal semen analysis (SA) parameters, but not among those with potential hormonal dysfunction such as Klinefelter syndrome or cryptorchidism...
October 26, 2016: Journal of Pediatric Urology
S Cacanyiova, A Berenyiova, F Kristek, M Drobna, K Ondrias, M Grman
The aorta plays an important role in blood pressure control so the early determination of its vasoactive properties could predict pathological changes in hypertension. The aim of study was to compare vasoactive properties and geometry of thoracic aorta (TA) and the participation of two vasoactive transmitters, nitric oxide (NO) and hydrogen sulphide (H2S), in TA tone regulation in young Wistar rats (WR) and spontaneously hypertensive rats (SHR). Four-weeks-old WR and SHR were used. Systolic blood pressure (sBP) was measured by plethysmography...
August 2016: Journal of Physiology and Pharmacology: An Official Journal of the Polish Physiological Society
Dorota Gliwicz, Irena Jankowska, Aldona Wierzbicka, Anna Miśkiewicz-Chotnicka, Aleksandra Lisowska, Jarosław Walkowiak
Alagille syndrome (AGS) is often associated with symptoms of maldigestion, such as steatorrhea, hypotrophy and growth retardation. Exocrine pancreatic insufficiency was proposed as the underlying cause. We aimed to assess the exocrine pancreatic function with the use of different methods in AGS patients. Concentrations of fecal elastase-1 (FE1) and fecal lipase (FL) activities were measured in 33 children with AGS. The C-mixed triglyceride breath test (MTBT) in a subgroup comprising 15 patients. In all patients studied, FE1 concentrations and FL activities were normal...
October 17, 2016: Scientific Reports
Filip A Dąbrowski, Patrycja Jarmużek, Agata Gondek, Agnieszka Cudnoch-Jędrzejewska, Dorota Bomba-Opoń, Mirosław Wielgoś
OBJECTIVES: Gestational diabetes mellitus (GDM) is a metabolic disease diagnosed in 1.7% up to 11.6% pregnancies. The prevalence of adverse pregnancy outcome is significantly higher in the case of early onset of diabetes mellitus. Adropin is a hormone promoting carbohydrate oxidation over fat oxidation, and influence nitric oxide synthase. Copeptin is a cleavage product of the vasopressin precursor recently correlated with diabetes mellitus. The aim of the study was to determine maternal serum adropin and copeptin concentrations in women with early and late manifestation of GDM and to discuss their potential role as biochemical markers of insulin resistance...
2016: Ginekologia Polska
Anabel Martinez Lyons, Anna Ardissone, Aurelio Reyes, Alan J Robinson, Isabella Moroni, Daniele Ghezzi, Erika Fernandez-Vizarra, Massimo Zeviani
BACKGROUND: Assembly of cytochrome c oxidase (COX, complex IV, cIV), the terminal component of the mitochondrial respiratory chain, is assisted by several factors, most of which are conserved from yeast to humans. However, some of them, including COA7, are found in humans but not in yeast. COA7 is a 231aa-long mitochondrial protein present in animals, containing five Sel1-like tetratricopeptide repeat sequences, which are likely to interact with partner proteins. METHODS: Whole exome sequencing was carried out on a 19 year old woman, affected by early onset, progressive severe ataxia and peripheral neuropathy, mild cognitive impairment and a cavitating leukodystrophy of the brain with spinal cord hypotrophy...
September 28, 2016: Journal of Medical Genetics
Airi Tiirats, Triin Viltrop, Margit Nõukas, Ene Reimann, Andres Salumets, Sulev Kõks
BACKGROUND: Despite extensive research the genetic component of extremely low birth weight (ELBW) in newborns has remained obscure. RESULTS: The aim of the case study was to identify candidate gene(s) causing ELBW in newborns and hypotrophy in infants. A family of four was studied: mother, father and two ELBW-phenotype children. Studies were made of the medical conditions of the second child at birth and post-partum - peculiar phenotype, micro-anomalies, recurrent infections, suspicion of autoimmune hepatitis, multifactorial encephalopathy and suspected metabolic and chromosomal abnormalities...
2016: BMC Genetics
Kim M J Verdurmen, Noortje B Eijsvoogel, Carlijn Lempersz, Rik Vullings, Christian Schroer, Judith O E H van Laar, S Guid Oei
BACKGROUND: Congenital heart disease (CHD) is the most common severe congenital anomaly worldwide. Diagnosis early in pregnancy is important, but the detection rate by two-dimensional ultrasonography is only 65%-81%. OBJECTIVES: To evaluate existing data on CHD and noninvasive abdominal fetal electrocardiography (ECG). SEARCH STRATEGY: A systematic review was performed through a search of the Cochrane Library, PubMed, and Embase for studies published up to April 2016 using the terms "congenital heart disease," "fetal electrocardiogram," and other similar keywords...
November 2016: International Journal of Gynaecology and Obstetrics
K Mahati, V Bhagya, T Christofer, A Sneha, B S Shankaranarayana Rao
Severe depression compromises structural and functional integrity of the brain and results in impaired learning and memory, maladaptive synaptic plasticity as well as degenerative changes in the hippocampus and amygdala. The precise mechanisms underlying cognitive dysfunctions in depression remain largely unknown. On the other hand, enriched environment (EE) offers beneficial effects on cognitive functions, synaptic plasticity in the hippocampus. However, the effect of EE on endogenous depression associated cognitive dysfunction has not been explored...
October 2016: Neurobiology of Learning and Memory
Kim M J Verdurmen, Carlijn Lempersz, Rik Vullings, Christian Schroer, Tammo Delhaas, Judith O E H van Laar, S Guid Oei
BACKGROUND: The fetal anomaly ultrasound only detects 65 to 81 % of the patients with congenital heart disease, making it the most common structural fetal anomaly of which a significant part is missed during prenatal life. Therefore, we need a reliable non-invasive diagnostic method which improves the predictive value for congenital heart diseases early in pregnancy. Fetal electrocardiography could be this desired diagnostic method. There are multiple technical challenges to overcome in the conduction of the fetal electrocardiogram...
2016: BMC Pregnancy and Childbirth
Francesco Saverio Camoglio, Costanza Bruno, Marta Peretti, Federica Bianchi, Alessandra Bucci, Gabriella Scirè, Simone Patanè, Nicola Zampieri
OBJECTIVE: To evaluate the role of elastosonography in the evaluation of testicular elasticity as predictive sign of testicular damage in patients with varicocele. MATERIALS AND METHODS: Between December 2010 and December 2014 we evaluated patients with varicocele also by sonoelastography of the testes. We created three groups: Group A patients with untreated varicocele, group B patients treated with the same technique and group C healthy age machted patients without varicocele...
August 9, 2016: Urology
Ana Claudia Petrini, Douglas Massoni Ramos, Luana Gomes de Oliveira, Carlos Alberto da Silva, Adriana Pertille
[Purpose] To evaluate the efficacy of pre-exercise on immobilization and subsequent recovery of white gastrocnemius (WG) and soleus (SOL) muscles of female rats. [Subjects and Methods] Thirty, 8-month-old, female Wistar rats were randomly and evenly allocated to six groups: sedentary (S); immobilized sedentary (IS); immobilized/rehabilitated sedentary (IRS); trained (T); immobilized trained (IT); and immobilized/rehabilitated trained (IRT). For four months, T, IT and IRT group animals performed swimming exercise (three sessions per week, 60 minutes per session), while S, IS and IRS groups animals remained housed in cages...
July 2016: Journal of Physical Therapy Science
Moji Aghajani, Eduard T Klapwijk, Nic J van der Wee, Ilya M Veer, Serge A R B Rombouts, Albert E Boon, Peter van Beelen, Arne Popma, Robert R J M Vermeiren, Olivier F Colins
BACKGROUND: The developmental trajectory of psychopathy seemingly begins early in life and includes the presence of callous-unemotional (CU) traits (e.g., deficient emotional reactivity, callousness) in conduct-disordered (CD) youth. Though subregion-specific anomalies in amygdala function have been suggested in CU pathophysiology among antisocial populations, system-level studies of CU traits have typically examined the amygdala as a unitary structure. Hence, nothing is yet known of how amygdala subregional network function may contribute to callous-unemotionality in severely antisocial people...
May 27, 2016: Biological Psychiatry
Lisa Strobel, Frank Hölzle, Dieter Riediger, Ralf-Dieter Hilgers, Ali Modabber, Marcus Gerressen
PURPOSE: In addition to the transconjunctival approach, the subtarsal incision is one of the most commonly used procedures for surgical exploration of the orbital floor and infraorbital rim. However, available data are limited regarding validity and long-term esthetic and functional outcomes. The aim of this study was to verify the favorable clinical results of the subtarsal approach and compare these results with the transconjunctival procedure. MATERIALS AND METHODS: Forty-five patients (subtarsal group, n = 30; transconjunctival group, n = 15) were examined 6 to 30 months after surgical intervention using a standardized follow-up...
July 1, 2016: Journal of Oral and Maxillofacial Surgery
Ahmad Salameh, Alexes C Daquinag, Daniela I Staquicini, Zhiqiang An, Katherine A Hajjar, Renata Pasqualini, Wadih Arap, Mikhail G Kolonin
We have previously identified prohibitin (PHB) and annexin A2 (ANX2) as proteins interacting on the surface of vascular endothelial cells in white adipose tissue (WAT) of humans and mice. Here, we demonstrate that ANX2 and PHB also interact in adipocytes. Mice lacking ANX2 have normal WAT vascularization, adipogenesis, and glucose metabolism but display WAT hypotrophy due to reduced fatty acid uptake by WAT endothelium and adipocytes. By using cell culture systems in which ANX2/PHB binding is disrupted either genetically or through treatment with a blocking peptide, we show that fatty acid transport efficiency relies on this protein complex...
July 7, 2016: JCI Insight
Fumihiro Higuchi, Shusaku Uchida, Hirotaka Yamagata, Naoko Abe-Higuchi, Teruyuki Hobara, Kumiko Hara, Ayumi Kobayashi, Tatsushi Shintaku, Yukihiro Itoh, Takayoshi Suzuki, Yoshifumi Watanabe
: Chronic stress-induced aberrant gene expression in the brain and subsequent dysfunctional neuronal plasticity have been implicated in the etiology and pathophysiology of mood disorders. In this study, we examined whether altered expression of small, regulatory, noncoding microRNAs (miRNAs) contributes to the depression-like behaviors and aberrant neuronal plasticity associated with chronic stress. Mice exposed to chronic ultra-mild stress (CUMS) exhibited increased depression-like behaviors and reduced hippocampal expression of the brain-enriched miRNA-124 (miR-124)...
July 6, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Zhiqun Zhou, Wenrui Huang, Jingsheng Liang, Danuta Szczesna-Cordary
The homozygous appearance of the intronic mutation (IVS6-1) in the MYL2 gene encoding for myosin ventricular/slow-twitch skeletal regulatory light chain (RLC) was recently linked to the development of slow skeletal muscle fiber type I hypotrophy and early cardiac death. The IVS6-1 (c403-1G>C) mutation resulted from a cryptic splice site in MYL2 causing a frameshift and replacement of the last 32 codons by 19 different amino acids in the RLC mutant protein. Infants who were IVS6-1(+∕+)-positive died between 4 and 6 months of age due to cardiomyopathy and heart failure...
2016: Frontiers in Physiology
Giovanni Murialdo, Attilia Piazzi, Giuseppe Badolati, Enrico Calcagno, Agostino Berio
In the present paper we report on a case of oculo-auriculo-vertebral spectrum presenting fluorescence in situ hybridization and comparative genomic hybridization tests negative, hypotonia of some branchiomeric muscles (with velo-pharyngeal insufficiency, dysphagia and nasal voice) and non-branchiomeric muscles (with strabismus and limb hypotrophy). On the basis of the left quadriceps muscle biopsy, showing anisometry and prevalence of type 1 fibers, and on literature data, we underline the relevance of TBX1 gene (regulator of neural crest cells and activator of myogenic factors in branchiomeric muscles development) and of PAX3 gene (present in neural crest, inducing migration of these cells and reported in non-branchiomeric muscles)...
2016: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
Liv Sandlund, Frank Nilsen, Rune Male, Sussie Dalvin
The function of the ecdysone receptor (EcR) during development and molting has been thoroughly investigated in some arthropods such as insects but rarely in crustacean copepods such as the salmon louse Lepeophtheirus salmonis (L. salmonis) (Copepoda, Caligidae). The salmon louse is an ectoparasite on Atlantic salmon that has major economical impact in aquaculture due to the cost of medical treatment methods to remove lice from the fish. Handling of salmon louse infestations is further complicated by development of resistance towards available medicines...
August 2016: Molecular and Biochemical Parasitology
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