bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pseudohypoparathyroidism: A Case Report of a Rare Disease with Uncommon Presentation Producing Diagnostic Dilemma
Authors: Uddin MZ , Howlader MAR , Amin MR , Morshed MG 
Published: July 2012

Pseudohypoparathyroidism (PHP) is a rare hereditary disorder having the prevalence of 3.4 per million. It is characterized by symptoms and signs of hypoparathyroidism, typically in association with distinctive skeletal and developmental defects. The features of hypoparathyroidism are due to tissue resistance to the effect of parathyroid hormone (PTH). We will describe a 32-yearold woman who had recurrent convulsion for 16 years, infertility, cataract, psychosis, candidiasis and typical features of Albrights hereditary osteodystrophy (AHO), which include a round face, short neck, short stature and brachydactyly. Laboratory investigations showed hypocalcemia, hyperphosphatemia with high PTH level. Computed tomography scan of head revealed wide spread calcification in basal ganglia and cerebral hemispheres. X ray of left foot showed short left 4th metatarsal bone. The patient was diagnosed as a case of PHP on the basis of somatic features of AHO with typical biochemical abnormalities and uncontrolled convulsion with combined antiepileptic drugs for 16 years. The unusual features in our case are long delay in clinical diagnosis and absence of family history. She was treated with calcium salt and vitamin D. With this treatment patients condition was improved and she experiences no attack of convulsion and carpal spasm. Anticonvulsants were withdrawn gradually. We recommend that hypocalcaemia should be excluded before commencing anticonvulsant therapy in all epileptic patients and those patients whose seizures are refractory to anticonvulsant drugs DOI: http://dx.doi.org/10.3329/jbcps.v29i4.11331 J Bangladesh Coll Phys Surg 2011; 29: 227-230
Chronic Disseminated Histoplasmosis in an Immunocompetent Man Presented as Bilateral Adrenal Masses with Partial Adrenocortical Insufficiency - A Rare Condition
Authors: Alam ABM Sarwar E , Hasan Z , Khan MAI , Zulkifl MA , Samdani ATM , Islam MT , Khan SH , Roy KB 
Published: July 2012

Bilateral adrenal masses caused by histoplasmosis is a rare condition. To our knowledge this is the first case report of bilateral adrenal enlargement by histoplasmosis in Bangladesh. We report a case of 75 years old man who presented with low grade fever, night sweating, anorexia and progressive weight loss for 9 months prior to admission in Square Hospital. Clinical profile was unremarkable apart from low grade fever (with maximum temperature recorded up to 101ºF) and low blood pressure with significant postural drop. Plasma cortisol (morning and evening) and glucose were normal but short ACTH stimulation test revealed low plasma cortisol response. Abdominal ultrasound gave a definite clue of left adrenal mass which was later found as bilateral adrenal masses of significant size by abdominal CT scan. Initially Gomoris Methenamine Silver (GMS) stain of CT guided FNAC of the left adrenal mass showed small budding yeast morphologically consistent with histoplasmosis. A second CT guided FNAC of both adrenal masses also showed similar findings which was finally confirmed by fungus culture as Histoplasma capsulatum. The patient was then treated with injection amphotericin-B followed by oral itraconazole and fludrocortisone and he responded well DOI: http://dx.doi.org/10.3329/jbcps.v29i4.11345 J Bangladesh Coll Phys Surg 2011; 29: 235-240
High Likelihood of Meningitis with Late Onset Septicemia in Newborn
Authors: Shahidullah M , Mannan MA , Alam MS , Uddin MZ , Dey AC , Dey SK 
Published: July 2012

Neonatal meningitis must be recognized and treated quickly to prevent death or disability. Incidence of neonatal meningitis with late onset sepsis is higher in developing countries than those of resource-rich countries. In neonates signs and symptoms of serious infections are often obscured and clinical examination cannot distinguish among septic babies with or without meningitis. Clinicians often differ whether neonates undergo lumber puncture or not to distinguish septic babies with or without meningitis. Abnormal CSF findings are often used to detect neonatal meningitis and determine the type and length of antibiotic therapy with proven sepsis and meningitis cases. This study was conducted to evaluate the bacterial meningitis among the late onset sepsis in newborns and to identify the clinical manifestations that can distinguish septicemia from meningitis in neonates. Total 1706 admitted patient in NICU of Bangabandhu Sheikh Mujib Medical University from January 2007 to December 2009 were evaluated retrospectively. Among the 133 (27.94%) cases of suspected late onset sepsis 47(35.33%) were proven sepsis, 63(47.37%) were probable sepsis and 23(17.29%) cases were clinical sepsis based on clinical features laboratory reports and blood cultures. Among the proven sepsis 12(42.85%) cases were found to have definitive bacterial meningitis and 16(57.15%) were probable bacterial meningitis. Among the provable sepsis only 1(12.50%) cases were found to have definite bacterial meningitis and 7 (87.50%) cases were probable bacterial meningitis. There were no meningitis have found among the clinical sepsis. Neonatal meningitis frequently occurred in late onset sepsis. The most frequent presenting clinical features for meningitis cases are more or less similar to those of septicemic cases. The data of the study suggest that newborns with a positive blood culture are significantly more likely to have meningitis than those with a negative blood culture. DOI: http://dx.doi.org/10.3329/jbcps.v30i1.11362 J Bangladesh Coll Phys Surg 2012; 30: 17-23
Moyamoya Disease: A Rare Entity Report of One Case
Authors: Rahman A , Haque M , Hossain MA 
Published: July 2012

Moyamoya disease is a disease of the cerebral vessels at the base of the cranium and is most prevalent in Japan. It is relatively rare in other parts of the world. Though few cases have been reported from different Asian and some European countries, to the best of our knowledge, no case of Moyamoya disease has been reported in our country so far. Here we report a case of Moyamoya disease in a 9 years old girl diagnosed in the department of neurosurgery of Bangabandhu Sheikh Mujib Medical University. We believe this is the first detected case in our country DOI: http://dx.doi.org/10.3329/jbcps.v30i1.11365 J Bangladesh Coll Phys Surg 2012; 30: 41-43
Addisons Disease, Idiopathic Intracranial Hypertension and Empty Sella - In a 40-Year-Old Woman
Authors: Chowdhury MAJ , Salma U , Ahmed QMU , Fariduddin M , Alam A , Khan SIMKN 
Published: July 2012

A 40-year-old woman having normal menstrual history got admitted into Bangabandhu Sheikh Mujib Medical University (BSMMU) because of vomiting for previous two months, with a background history of irregular steroid intake for her bodyache for about six years. She was gaining weight and gradually losing vision in her right eye and noticed increased body pigmentation. Physical examination revealed BMI 29 kg/m2, generalized pigmentation more marked in palmar crease and oral mucosa, secondary optic atrophy in right eye and papilloedema in left eye. After biochemical and radiological investigation she was diagnosed as a case of Addisons disease with idiopathic intracranial hypertension (IIH) with empty sella DOI: http://dx.doi.org/10.3329/jbcps.v30i1.11368 J Bangladesh Coll Phys Surg 2012; 30: 53-55
Biomarkers in sepsis at time zero: intensive care unit scores, plasma measurements and polymorphisms in Argentina
Authors: Perés Wingeyer Silvia Daniela Amanda , Cunto Eleonora Roxana , Nogueras Cristina Mabel , San Juan Jorge Alejandro , Gomez Norberto , De Larrañaga Gabriela Fernanda 
Published: July 2012

Introduction: A patient's response to sepsis is influenced by their genetic background. Our objective was to use plasma markers, such as protein C (PC), D-dimer, Plasminogen Activator Inhibitor-1 (PAI-1) levels, and the PAI-1 rs1799889 4G/5G and Tumor Necrosis Factor-α rs1800629 G/A polymorphisms to improve classical intensive care unit (ICU) scores. Methodology: We studied 380 subjects, 166 with sepsis. We performed coagulation tests: plasma PAI-1 and PC levels were evaluated by chromogenic methods; and D-dimer was evaluated by immunoturbidimetric assay. Polymorphisms were performed using for polymerase chain reactions followed by digest with specific restriction enzyme. We acquired the APACHE and SOFA scores (time zero), sex, age, body mass index, associated co-morbidities, length of ICU stay (days), the severity of sepsis (sepsis, severe sepsis or septic shock), the HIV status and the ICU outcome (survival or death). Results: We found significant differences between patients who died (n=80) and those who survived (n=86) in terms of the ICU length of stay (6 vs. 10 days), septic shock (64 versus 24%), age (51 versus 38 years old), HIV+ condition (34 versus 16%), SOFA (7 versus 4), APACHE (19 versus 13), D-dimer (4.32 versus 2.88 mg/ml), PC (46.0 versus 63.5 %) and PAI-1 (33.0 versus 16.5 UA/l). When we used a regression analysis with dichotomized variables, only the SOFA4, PAI-116, HIV status and the PAI-1 4G allele proved to be predictors of death at time zero. Conclusions: In the future, ICU scores may be further improved by adding certain genomic or plasma data.
Key Properties of NiMnGa Based Single Crystals Grown with the SLARE Technique
Authors: Rolfs Katharina , Chmielus Markus , Guldbakke Jan M. , Wimpory Robert C. , Raatz Annika , Petry Winfried , Müllner Peter , Schneider Rainer 
Published: July 2012

AbstractMagnetic shape memory alloys (MSMAs), exhibit large strains and hence are materials, which could substitute giant magnetostrictive and piezoelectrical materials in actuating devices. The actuation stress needed to induce the strain is much lower than in other actuator materials. Since the strain can be induced without phase transformation by a magnetic field, the development of actuators with high working frequencies is possible. However, for reasonable applications, large strains have to be induced with small magnetic fields. Up to now repeatable magnetically induced strains of 5–10% in magnetic fields of less than 500 mT have been achieved only in single crystals. The production of NiMnGa based single crystals is difficult and time consuming. The crystal quality is affected by porosity and impurities. With the Bridgeman based method called Slag Remelting and Encapsulation (SLARE) single crystalline ingots of NiMnGa, NiMnGaFe, and NiMnGaCo of high quality were grown and characterized. The results show that MSMA properties depend on the position within the single crystalline rods due to a composition gradient. The influence of surface treatment demonstrates that the decrease of surface roughness leads to a decrease of twinning stress. MSMAs with twinning stresses above 1 MPa show a magnetic field induced strain (MFIS) when tilting is not restricted by constraints. Softer samples can adapt to constraints much better and show large MFIS. Substituting Ni by Fe and Co, shifted the phase transitions successfully to higher temperatures. NiMnGa alloyed with up to 6 at.% Co showed three different martensite structures: a non‐modulated tetragonal structure, a modulated tetragonal structure, showing the same behavior as NiMnGa with identical structures and a non‐modulated orthorhombic structure with a stress–strain‐behavior explainable by the double twinning mechanism.
Photoelectric Effects in Single Domain BiFeO3 Crystals
Authors: Moubah Reda , Rousseau Olivier , Colson Dorothée , Artemenko Alla , Maglione Mario , Viret Michel 
Published: July 2012

AbstractEnergy harvesting from sunlight is essential in order to save fossil fuels, which are found in limited amount in the earth's crust. Photovoltaic devices converting light into electrical energy are presently made of semiconducting materials, but ferroelectrics are also natural candidates because of their internal built‐in electric field. Although they are clearly uncompetitive for mainstream applications, the possibility to output high photovoltages is making these materials reconsidered for targeted applications. However, their intrinsic properties regarding electronic transport and the origin of their internal field are poorly known. Here, it is demonstrated that under intense illumination and electric field, oxygen vacancies can be controllably generated in BiFeO3 to dramatically increase the conductance of BiFeO3 single crystals to a controllable value spanning 6 orders of magnitude while at the same time triggering light sensitivity in the form of photoconductivity, diode, and photovoltaic effects. Properties of the bulk and the Schottky interfaces with gold contacts are disentangled and it is shown that bulk effects are time dependent. The photocurrent has a direction that can be set by an applied field without changing the ferroelectric polarization direction. The self‐doping procedure is found to be essential in both the generation of electron hole pairs and the establishment of the internal field that separates them.
Building Bridges: Leveraging Interdisciplinary Collaborations in the Development of Biomaterials to Meet Clinical Needs
Authors: Fong Eliza L. S. , Watson Brendan M. , Kasper F. Kurtis , Mikos Antonios G. 
Published: July 2012

AbstractOur laboratory at Rice University has forged numerous collaborations with clinicians and basic scientists over the years to advance the development of novel biomaterials and the modification of existing materials to meet clinical needs. This review highlights collaborative advances in biomaterials research from our laboratory in the areas of scaffold development, drug delivery, and gene therapy, especially as related to applications in bone and cartilage tissue engineering.
The worker's ear: A history of noise‐induced hearing loss
Authors: Thurston Floyd E. 
Published: July 2012

AbstractHearing loss afflicts millions of people throughout the world, and many of those millions are workers who have been exposed to excessive noise. People have always been surrounded by a variety of sounds in their environments, but the invention of gunpowder and the Industrial Revolution introduced new sounds of greater intensity than ever before. It is only within the past 40 years that serious efforts to reduce excessive noise at work sites have been initiated. In the latter half of the 20th century, many governments imposed regulations to limit workers' exposure to loud sounds. Because of this recent action, some people may believe that the recognition of occupational noise‐induced hearing loss (NIHL) is relatively new. However, a review of selected historical and medical manuscripts, books, and articles show that the association of hearing changes with loud noise exposure was recognized for centuries before systematic attempts were made to limit the exposure. Delays in implementing controls to limit noise exposure were due to cultural reasons, technical problems in controlling noise generation, and a lack of understanding of the mechanics of hearing loss. A historical perspective on this issue may remind health care providers that they need to continue to emphasize hearing conservation measures as occupational noise exposures change with the shift of industrial activities between countries. Am. J. Ind. Med. 56:367–377, 2013. © 2012 Wiley Periodicals, Inc.
Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population
Authors: Fattahi Zohreh , Shearer A. Eliot , Babanejad Mojgan , Bazazzadegan Niloofar , Almadani Seyed Navid , Nikzat Nooshin , Jalalvand Khadijeh , Arzhangi Sanaz , Esteghamat Fatemehsadat , Abtahi Rezvan , Azadeh Batool , Smith Richard J.H. , Kahrizi Kimia , Najmabadi Hossein 
Published: July 2012

AbstractMYO15A is located at the DFNB3 locus on chromosome 17p11.2, and encodes myosin‐XV, an unconventional myosin critical for the formation of stereocilia in hair cells of cochlea. Recessive mutations in this gene lead to profound autosomal recessive nonsyndromic hearing loss (ARNSHL) in humans and the shaker2 (sh2) phenotype in mice. Here, we performed a study on 140 Iranian families in order to determine mutations causing ARNSHL. The families, who were negative for mutations in GJB2, were subjected to linkage analysis. Eight of these families showed linkage to the DFNB3 locus, suggesting a MYO15A mutation frequency of 5.71% in our cohort of Iranian population. Subsequent sequencing of the MYO15A gene led to identification of 7 previously unreported mutations, including 4 missense mutations, 1 nonsense mutation, and 2 deletions in different regions of the myosin‐XV protein. © 2012 Wiley Periodicals, Inc.
Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype
Authors: Frühmesser Anne , Haberlandt Edda , Judmaier Werner , Schinzel Albert , Utermann Barbara , Erdel Martin , Fauth Christine , Utermann Gerd , Zschocke Johannes , Kotzot Dieter 
Published: July 2012

AbstractExact breakpoint determination by DNA‐array has dramatically improved the analysis of genotype–phenotype correlations in chromosome aberrations. It allows a more exact definition of the most relevant genes and particularly their isolated or combined impact on the phenotype in an unbalanced state. Here, we report on a 21‐year‐old female with severe growth retardation, severe intellectual disability, hypoplasia of the corpus callosum, unilateral sacral hypoplasia, tethered cord, various minor facial dysmorphisms, and a telomeric deletion of about 4.4 Mb in 7q36.2‐>qter combined with a telomeric duplication of about 8 Mb in 17pter‐>p13.1. Fine mapping was achieved with the Illumina® Infinium HumanOmni1‐Quad v1.0 BeadChip. Most of the major clinical features correspond to the well‐known effects of haploinsufficiency of the MNX1 and SHH genes. In addition, review of the literature suggests an association of the 17p duplication with specific facial dysmorphic features and skeletal anomalies, but also an aggravating effect of the duplication‐deletion for severe growth retardation as well as sacral and corpus callosum hypoplasia by one or more genes located on the proximal half of the segmental 17p duplication could be elaborated by comparison with other patients from the literature carrying either the deletion or the duplication found in our patient. © 2012 Wiley Periodicals, Inc.
Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome
Authors: Di Donato N. , Riess A. , Hackmann K. , Rump A. , Huebner A. , von der Hagen M. , Hahn G. , Schrock E. , Tinschert S. 
Published: July 2012

AbstractMOMO syndrome, previously defined as Macrosomia, Obesity, Macrocephaly, and Ocular abnormalities (OMIM 157980) is a rare intellectual disability syndrome of unknown cause. We describe two further patients with MOMO syndrome. Reported data of patients with MOMO syndrome and our own findings indicate that overgrowth does not appear to be a specific feature. We propose to form the acronym “MOMO” from Macrocephaly, Obesity, Mental (intellectual) disability, and Ocular abnormalities, excluding macrosomia from the syndrome name. The combination of obesity, macrocephaly, and colobomas is unique, therefore these features can be used as major diagnostic criteria of MOMO syndrome. © 2012 Wiley Periodicals, Inc.
Investigation of allelic heterogeneity of the CCK‐A receptor gene in paranoid schizophrenia
Authors: Zheng Chunming , Fu Qiang , Shen Yan , Xu Qi 
Published: July 2012

AbstractThe cholecystokinin type A receptor (CCKAR) gene has been found to be associated with positive symptoms in patients with schizophrenia but the results reported to date are inconsistent. Considering the involvement of allelic heterogeneity in poor replication of the CCKAR finding, we genotyped five single nucleotide polymorphisms (SNPs) located in the 5′ putative regulatory region of the CCKAR gene in a Chinese case–control sample and then applied the 5‐SNP haplotype analysis to extract allelic heterogeneity information. The results showed that three individual haplotypes were strongly associated with increased risk of schizophrenia (corrected P = 2.9 × 10−4, P = 2.5 × 10−5, and P = 1.4 × 10−5, respectively) and their combination gave an odds ratio (OR) of 6.12 with 95% CI 3.67–10.21 (P = 6.7 × 10−15). The haplotypes were also associated with some clinical symptoms including hallucination, suspiciousness, and hostility. Our work provided further evidence in support of the CCKAR hypothesis of schizophrenia and also suggested that haplotype‐based association analysis may be a powerful approach for identification of allelic heterogeneity of a disease‐underlying gene, which is very likely to be attributable to poor replication of an initial finding due to the reduction of sample power and the complexity of genetic architectures. © 2012 Wiley Periodicals, Inc.
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders
Authors: Bartnik Magdalena , Szczepanik Elżbieta , Derwińska Katarzyna , Wiśniowiecka‐Kowalnik Barbara , Gambin Tomasz , Sykulski Maciej , Ziemkiewicz Kamila , Kędzior Marta , Gos Monika , Hoffman‐Zacharska Dorota , Mazurczak Tomasz , Jeziorek Anetta , Antczak‐Marach Dorota , Rudzka‐Dybała Mariola , Mazurkiewicz Hanna , Goszczańska‐Ciuchta Alicja , Zalewska‐Miszkurka Zofia , Terczyńska Iwona , Sobierajewicz Małgorzata , Shaw Chad A. , Gambin Anna , Mierzewska Hanna , Mazurczak Tadeusz , Obersztyn Ewa , Bocian Ewa , Stankiewicz Paweł 
Published: July 2012

AbstractCopy‐number variants (CNVs) collectively represent an important cause of neurodevelopmental disorders such as developmental delay (DD)/intellectual disability (ID), autism, and epilepsy. In contrast to DD/ID, for which the application of microarray techniques enables detection of pathogenic CNVs in ∼10–20% of patients, there are only few studies of the role of CNVs in epilepsy and genetic etiology in the vast majority of cases remains unknown. We have applied whole‐genome exon‐targeted oligonucleotide array comparative genomic hybridization (array CGH) to a cohort of 102 patients with various types of epilepsy with or without additional neurodevelopmental abnormalities. Chromosomal microarray analysis revealed 24 non‐polymorphic CNVs in 23 patients, among which 10 CNVs are known to be clinically relevant. Two rare deletions in 2q24.1q24.3, includingKCNJ3and 9q21.13 are novel pathogenic genetic loci and 12 CNVs are of unknown clinical significance. Our results further support the notion that rare CNVs can cause different types of epilepsy, emphasize the efficiency of detecting novel candidate genes by whole‐genome array CGH, and suggest that the clinical application of array CGH should be extended to patients with unexplained epilepsies. © 2012 Wiley Periodicals, Inc.
The association of TGF‐β1 codon 10 polymorphism with suicide behavior
Authors: Omrani Mir Davood , Bagheri Morteza , Bushehri Behzad , Azizi Faezeh , Anoshae Mohamad‐Reza 
Published: July 2012

AbstractMany risk factors have been identified for suicide behavior and although a role for cytokines has been suggested in specific psychiatric conditions and suicide behavior, this role is not well‐defined. Since some polymorphisms can alter the expression of cytokines, in this study we attempted to assess the role of TGF‐β1 codon 10 (T/C) polymorphisms (rs1982073) in suicide behavior. A total of 145 individuals with suicide behavior as well as 200 control participants (without any history of suicide behavior) were included in the study. TGF‐β1 codon 10 polymorphism was determined using allele‐specific oligonucleotide polymerase chain reaction. Our results demonstrated that the TGF‐β1 codon 10 T/T genotype was significantly more prevalent in individuals with suicide behavior (41.7%), in comparison with the controls (27%). The findings of this study demonstrated an association between TGF‐β1 (codon 10) T/C polymorphisms and suicide behavior. © 2012 Wiley Periodicals, Inc.