bluuebunny/crossref_metadata_2025_split huggingface dataset:
Scapular Kinematics and Shoulder Elevation in a Traditional Push-Up
Authors: Suprak David N. , Bohannon Jennifer , Morales Gabriel , Stroschein Joseph , San Juan Jun G. 
Published: August 2013

Context:Proper scapulothoracic motion is critical for the health and function of the shoulder and represents a principal focus in the rehabilitation setting. Variants of the traditional push-up are used frequently to help restore proper scapular kinematics. To date, substantial research has focused on muscle activation levels of rotator cuff and scapular-stabilizing musculature, whereas a dearth of literature exists regarding scapular kinematics during push-up variants.Objective:To examine the effect of shoulder position on scapular kinematics across the range of motion (ROM) of a traditional push-up.Design:Cross-sectional study.Setting:University laboratory.Patients or Other Participants:Sixteen healthy participants without a history of upper extremity or spine injury requiring rehabilitation or surgery.Intervention(s):Participants performed a traditional push-up while kinematic measurements were acquired from multiple upper extremity segments. The 3 shoulder position conditions were (1) self-selected position, (2) shoulder adducted upon ascent (at side), and (3) shoulder elevated to approximately 90°.Main Outcome Measure(s):Scapular posterior tilt, upward rotation, and external rotation were examined across elbow-extension ROM and compared across conditions.Results:Posterior tilt was greater in the self-selected and at-side conditions than in the elevated condition and increased linearly with elbow extension. External rotation was greater in the self-selected and at-side conditions compared with that in the elevated condition. In the at-side condition, upward rotation began lower than in the other conditions at the start of the concentric phase but increased above the others soon after the elbow started to extend.Conclusions:Performing a traditional push-up with the shoulders elevated may place the scapula in a position of impingement. Clinicians should be cognizant of shoulder elevation when prescribing and monitoring exercise progression. The results of this study will provide further direction for clinicians in prescribing rehabilitation exercises for the upper extremity, especially closed chain exercises for shoulder conditions.
The McKusick-Kaufman hydrometrocolpos-polydactyly syndrome: A rare case report
Authors: Yewalkar Swapnil P , Yadav Vikas K , Khadse G J 
Published: August 2013

AbstractA combination of hydrometrocolpos, polydactyly, and cardiac anomlies is the cardinal feature of McKusick-Kaufman syndrome. Neonatal hydrometrocolpos is rare Mullerian duct anomaly caused by obstruction of the vagina. There is an accumulation of mucus secretions proximal to the obstruction. The secretions are secondary to intrauterine and postnatal stimulation of uterine and cervical glands by maternal estrogens. Here, we report a case of 1-day-old neonate who presented with abdominal distension. Ultrasound and computed tomography findings revealed a large abdominopelvic cystic mass posterior to the urinary bladder. Other associated findings were polydactyly and bilateral hydronephosis. Laparotomy confirmed the findings of hydrometrocolpos caused by stenosis/atresia of lower vagina.
Embolization of a large high-flow renal arteriovenous fistula using 035″ and 018″ detachable coils
Authors: Sundarakumar Dinesh K , Kroma Ghazwan M , Smith Crysela M , Lopera Jorge E , Suri Rajeev 
Published: August 2013

AbstractTranscatheter embolization of renal arteriovenous fistula (AVF) is a minimally invasive procedure that, in some occasions, can replace surgery and potentially save the kidney. The embolization techniques for the renal AVFs have evolved considerably with the availability of newer hardwares. Still, the risk of inadvertent migration of the embolization materials to the pulmonary circulation is a concern. This article describes a novel technique of coiling the feeding segmental artery to a large high-flow renal AVF using 035″ and 018″ detachable coils only, and briefly reviews the previously described strategies to safely embolize renal AVFs.
Numerical Buoyancy-Wave Model for Wave Stress and Drag Simulations in the Atmosphere
Authors: Zirk M. , Rõõm R. , Männik A. , Luhamaa A. , Kaasik M. , Traud S. 
Published: August 2013

AbstractOrographic drag formation is investigated using a numerical wave model (NWM), based on the pressure-coordinate dynamics of non-hydrostatic HIRLAM. The surface drag, wave stress (vertical flux of horizontal momentum), and wave drag are split to the longitudinal and transverse components and presented as Fourier sums of their spectral amplitudes weighted with the power spectrum of relative orographic height. The NWM is accomplished, enabling a spectral investigation of the buoyancy wave stress, and drag generation by orography and is then applied to a cold front, characterised by low static stability of the upper troposphere, large vertical and directional wind variations, and intensive trapped wave generation downstream of obstacles. Resonances are discovered in the stress and drag spectra in the form of high narrow peaks. The stress conservation problem is revisited. Longitudinal stress conserves in unidirectional flow, 2D orography conditions, but becomes convergent for rotating wind or 3D orography. Even in the convergent case the vertical momentum flux from the troposphere to stratosphere remains substantial. The transverse stress never conserves. Disappearing at the surface and on the top, it realises the main momentum exchange between lower an upper parts of the troposphere. Existence of stationary stratospheric quasi-turbulence (SQT) is established above wind minimum in the stratosphere.
Reversal of Hartmann&#39;s Procedure in Patients with Very Short Rectal Stump: A New Technique
Authors: Gupta Vikas , Singh Gurpreet 
Published: August 2013

ABSTRACT

Objective
Reversal of Hartmann's procedure is a difficult surgical exercise with significant morbidity and mortality. One of the difficulties encountered during surgery is the presence of a very short rectal stump.

Materials and methods
We present two cases where the patients underwent a Hartmann's procedure for abortion induced colonic injury and a subsequent failed attempt at reversal. The distal stump was mobilized from the sacrum (virgin field). An end to side anastomosis was performed between the distal end of colon and the posterior surface of the rectal stump using an end to end circular stapler.

Results
The patients had a complete recovery with good functional results.

Conclusion
This is a novel technique which when applied in such situations will prove technically easy and functionally adequate.

How to cite this article
Singh G, Gupta V. Reversal of Hartmann's Procedure in Patients with Very Short Rectal Stump: A New Technique. J Postgrad Med Edu Res 2013;47(3):150-152.
A Case Report of Signet-Ring Cell Carcinoma Colon
Authors: Singh Surinder , Kohli Ritesh , Gupta Ashwani K , Matreja Prithpal Singh 
Published: August 2013

ABSTRACT
We report a case of 14-year-old male coming to the emergency department with acute intestinal obstruction. Exploratory laparotomy shows an annular stenosing growth in the descending colon. Resection and anastomosis of descending colon with defunctioning right transverse colostomy is performed followed by chemotherapy with 5-fluorouracil (5-FU) which ensured survival of the patient without metastatic disease even after 6 months of the treatment.
Despite the reported high malignant behavior and poor prognosis of such tumors, prompt effective surgical and chemotherapeutic management may increase the chances of survival of such patients.

How to cite this article
Kohli R, Singh S, Gupta AK, Matreja PS. A Case Report of Signet-Ring Cell Carcinoma Colon. J Postgrad Med Edu Res 2013;47(3):153-155.
Hydatid Cyst of Liver: A Rare Cause of Secondary Budd-Chiari Syndrome
Authors: Khandelwal Niranjan , Kang Mandeep , Gupta Rajesh , Mahajan Divyesh 
Published: August 2013

ABSTRACT
Hydatid cyst of the liver, causing compression of the inferior vena cava (IVC) and hepatic veins is a rare cause of secondary Budd-Chiari syndrome (BCS). As the hydatid disease is endemic in India, it is a rare but treatable cause of BCS. The early diagnosis and timely intervention can prevent hepatic complications leading to BCS in the affected patients.

How to cite this article
Mahajan D, Kang M, Gupta R, Khandelwal N. Hydatid Cyst of Liver: A Rare Cause of Secondary Budd-Chiari Syndrome. J Postgrad Med Edu Res 2013;47(3): 159-161.
Revision of the types of species of Alloxysta described by Cameron and Fergusson (Hymenoptera: Figitidae: Charipinae) and deposited in the Natural History Museum (London), including a key to the fauna of Great Britain
Authors: Ferrer-Suay Mar , Selfa Jesús , Notton David G. , Pujade-Villar Juli 
Published: August 2013

Type material of the species of Alloxysta described by Cameron and Fergusson and deposited in the Natural History Museum of London has been revised. Seven species are considered valid: Alloxysta abdera Fergusson, 1986, A. basimacula (Cameron, 1886), A. crassa (Cameron, 1889), A. mullensis (Cameron, 1883), A. piceomaculata (Cameron, 1883), A. pleuralis (Cameron, 1879) and A. semiaperta Fergusson, 1986. A. basimacula, A. crassa, A. maculicollis (Cameron, 1886), A. perplexa (Cameron, 1889) and A. piceomaculata are here removed from synonymy with A. macrophadna (Hartig,1841). A. ruficeps (Cameron, 1883) is removed from synonymy with A. victrix (Westwood, 1833). A. caledonica (Cameron, 1886) and A. perplexa are here synonymized with A. basimacula. A. maculicollis, A. ruficeps and A. ruficollis (Cameron, 1883) are here synonymized with A. castanea (Hartig, 1841). A. ancylocera (Cameron, 1886) was correctly synonymized with A. fuscicornis (Hartig, 1841), A. curvicornis (Cameron, 1883) was correctly synonymized with A. victrix and A. filicornis (Cameron, 1889) was correctly synonymized with A. macrophadna. Complete redescriptions and illustrations are given for valid species. A key for all the Alloxysta species found so far in Great Britain is given.
Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux–lamy syndrome)
Authors: Brands Marion , Roelants Jorine , de Krijger Ronald , Bogers Ad , Reuser Arnold , van der Ploeg Ans , Helbing Wim 
Published: August 2013

AbstractMaroteaux–Lamy syndrome (mucopolysaccharidosis type VI) is a rare lysosomal storage disorder in which the pathologic storage of glycosaminoglycans in various tissues can lead to severe symptoms, including cardiomyopathy. We report on a child with Maroteaux–Lamy syndrome whose cardiac condition deteriorated and eventually led to cardiac failure at the age of 7 years due to severe mitral regurgitation. She received a mitral valve replacement and tricuspid repair with successful outcome. Histologic examination of the mitral valve showed abundant “clear” cells in both the leaflets and chordae tendineae. In Hurler disease (MPS I), similar cells have been identified as activated valvular interstitial cells (VICs, a myofibroblast like cell type). Here we report that the “clear” cells are CD68 positive, a frequently used marker of macrophage lineage. The “clear” cells remained unstained with the more specific macrophage marker CD14 while persistent staining of other cells demonstrated macrophage infiltration. From these observations, we infer that macrophages are involved in mitral valve pathology in MPS VI. © 2013 Wiley Periodicals, Inc.
The phenotype range of achondrogenesis 1A
Authors: Grigelioniene Giedre , Geiberger Stefan , Papadogiannakis Nikos , Mäkitie Outi , Nishimura Gen , Nordgren Ann , Conner Peter 
Published: August 2013

AbstractAchondrogenesis 1A (ACG1A; OMIM 200600) is an autosomal recessive perinatally lethal skeletal dysplasia comprising intrauterine growth failure, micromelia, minor facial anomalies, deficient ossification of the skull, absent or extremely defective spinal ossification, short beaded ribs, and short deformed long bones with a stellate appearance. ACG1A is caused by mutations in the TRIP11 gene, resulting in deficiency of the Golgi microtubule associated protein 210. In this study we describe dizygotic twins with a clinical and radiological phenotype of ACG1A who were homozygous for a novel nonsense mutation in the TRIP11 gene. In addition, another patient with a milder manifestation, not readily distinguishable from those of other lethal skeletal dysplasias, was found to be a compound heterozygote for a nonsense mutation and a deletion of the 3′ end of the TRIP11 gene. We conclude that mutations of the TRIP11 gene may encompass a wider phenotypic range than previously recognized. © 2013 Wiley Periodicals, Inc.
Germline mosaicism does not explain the maternal age effect on trisomy
Authors: Rowsey Ross , Kashevarova Anna , Murdoch Brenda , Dickenson Carrie , Woodruff Tracey , Cheng Edith , Hunt Patricia , Hassold Terry 
Published: August 2013

AbstractA variety of hypotheses have been proposed to explain the association between trisomy and increasing maternal age in humans, virtually all of which assume that the underlying mechanisms involve meiotic errors. However, recently Hultén and colleagues [Hulten et al., 2010b] proposed a provocative model—the Oocyte Mosaicism Selection Model (OMSM)—that links age‐dependent trisomy 21 to pre‐meiotic errors in the ovary. Specifically, they propose that nondisjunctional events occur in a proportion of germ cells as they mitotically proliferate, resulting in mosaicism for trisomy 21. Assuming that the presence of an additional chromosome 21 delays meiotic progression, these cells would be ovulated later in reproductive life, resulting in an age‐dependent increase in aneuploid eggs. Because this model has important clinical implications, we initiated studies to test it. We first analyzed oocytes from two trisomy 21 fetuses, combining immunostaining with FISH to determine the likelihood of detecting the additional chromosome 21 at different stages of meiosis. The detection of trisomy was enhanced during the earliest stage of prophase (leptotene), before homologs synapsed. Accordingly, in subsequent studies we examined the chromosome content of leptotene oocytes in seven second trimester female fetuses, analyzing three chromosomes commonly associated with human trisomies (i.e., 13, 16, and 21). In contrast to the prediction of the OMSM, we found no evidence of trisomy mosaicism for any chromosome. We conclude that errors in pre‐meiotic germ cells are not a major contributor to human aneuploidy and do not provide an explanation for the age‐related increase in trisomic conceptions. © 2013 Wiley Periodicals, Inc.
Osteogenesis imperfecta, tricho‐dento‐osseous syndrome and intellectual disability: A familial case with 17q21.33‐q22 (COL1A1 and DLX3) deletion and 7q32.3‐q33 duplication resulting from a reciprocal interchromosomal insertion
Authors: Harbuz Radu , Bilan Frédéric , Couet Dominique , Charraud Valérie , Kitzis Alain , Gilbert‐Dussardier Brigitte 
Published: August 2013

ABSTRACTWe report on a 22‐year‐old woman with features of osteogenesis imperfecta (OI), tricho‐dento‐osseous (TDO) syndrome and intellectual disability. Whole genome oligonucleotide microarray analysis revealed a copy number gain of 3 Mb in 7q32.3‐q33 and a loss of 3.4 Mb in 17q21.33‐q22. FISH analysis showed that the third copy of 7q32 was inserted into the long arm of one chromosome 17, exactly in the region 17q21.33‐q22 that was deleted. The maternal uncle presented with clinical features similar to the proposita and had the same chromosomal anomalies. The mother of the proposita and two other family members were balanced carriers of this rearrangement, interpreted as an interchromosomal reciprocal insertion. Reciprocal insertion/four‐break rearrangement is a very rare chromosomal event. The deleted region on chromosome 17 contains 39 genes, including COL1A1 and DLX3 involved in OI and TDO syndrome respectively. The CACNA1G gene on the deleted segment of chromosome 17 may be a good candidate gene to explain the intellectual impairment. © 2013 Wiley Periodicals, Inc.
Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature
Authors: Guo Michael H. , Stoler Joan , Lui Julian , Nilsson Ola , Bianchi Diana W. , Hirschhorn Joel N. , Dauber Andrew 
Published: August 2013

AbstractProteoglycans are a component of the extracellular matrix and are critical for cellular and tissue function. Mutations in proteoglycan components and enzymes involved in proteoglycan synthesis have been implicated in several growth disorders, with common features including short stature and skeletal dysplasia. For example, mutations in B4GALT7, a gene whose protein product catalyzes proteoglycan synthesis, have been associated with the rare progeroid variant of Ehlers–Danlos syndrome. Here, we conducted exome sequencing in a patient with a previously undiagnosed growth disorder and identified compound heterozygous mutations in B4GALT7. This patient is just the fourth individual with genetically confirmed progeroid variant of Ehlers–Danlos syndrome. The mutations include a previously characterized c.808C>T p.Arg270Cys substitution, and a novel c.122T>C p.Leu41Pro substitution. We demonstrate that the novel mutation caused decreased levels of the enzyme, supporting the pathogenicity of the mutation. Our report identifies a novel mutation in B4GALT7 causing the progeroid variant of Ehlers–Danlos syndrome and contributes an extensive phenotypic characterization of a patient with the syndrome. We also reviewed the previous literature in addition to the present patient, and conclude that the key features associated with B4GALT7 deficiency are short stature, developmental anomalies of the forearm bones and elbow, and bowing of the extremities, in addition to the classic features of Ehlers–Danlos syndrome. This report helps define the phenotype of the progeroid variant of Ehlers–Danlos syndrome and furthers our understanding of the effect of proteoglycan defects in growth disorders. © 2013 Wiley Periodicals, Inc.
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome
Authors: Matsushita Masaki , Kitoh Hiroshi , Kaneko Hiroshi , Mishima Kenichi , Kadono Izumi , Ishiguro Naoki , Nishimura Gen 
Published: August 2013

AbstractThe phenotypic similarities have been demonstrated between non‐lethal campomelic dysplasia (CD) and small patella syndrome (SPS), in which different genetic defects have been identified. We report on a familial case of skeletal dysplasia with overlapping phenotype of mild CD and SPS, including defective ischio‐pubic ossification, elongated femoral neck, hypoplastic patellae, and increased space between the first and the second toes (sandal gap). Direct sequencing analysis demonstrated a novel missense mutation (p.H169Q) within the coding region of the SOX9 gene and negative for TBX4 mutations. Functional analysis of the p.H169Q mutant revealed reduced but not fully abolished transactivation capacity of the mutated protein. Retained residual SOX9 function might contribute to an extremely mild CD phenotype in the present cases. © 2013 Wiley Periodicals, Inc.
Autism and epistemology IV: Does autism need a theory of mind?
Authors: Fisch Gene S. 
Published: August 2013

AbstractIn their article, “Does the autistic child have a ‘theory of mind’?,” Baron‐Cohen et al. [1985] proposed a novel paradigm to explain social impairment in children diagnosed as autistic (AD). Much research has been undertaken since their article went to print. The purpose of this commentary is to gauge whether Theory of Mind (ToM)—or lack thereof—is a valid model for explaining abnormal social behavior in children with AD. ToM is defined as “the ability to impute mental states to oneself and to others” and “the ability to make inferences about what other people believe to be the case.” The source for their model was provided by an article published earlier by Premack and Woodruff, “Does the chimpanzee have a theory of mind?” Later research in chimpanzees did not support a ToM in primates. From the outset, ToM as a neurocognitive model of autism has had many shortcomings—methodological, logical, and empirical. Other ToM assumptions, for example, its universality in all children in all cultures and socioeconomic conditions, are not supported by data. The age at which a ToM emerges, or events that presage a ToM, are too often not corroborated. Recent studies of mirror neurons, their location and interconnections in brain, their relationship to social behavior and language, and the effect of lesions there on speech, language and social behavior, strongly suggests that a neurobiological as opposed to neurocognitive model of autism is a more parsimonious explanation for the social and behavioral phenotypes observed in autism. © 2013 Wiley Periodicals, Inc.
Analysis of susceptibility loci for nonsyndromic orofacial clefting in a European trio sample
Authors: Böhmer Anne C. , Mangold Elisabeth , Tessmann Peter , Mossey Peter A. , Steegers‐Theunissen Regine P. , Lindemans Jan , Bouwman‐Both Marieke , Rubini Michele , Franceschelli Paola , Aiello Vincenzo , Peterlin Borut , Molloy Anne M. , Nöthen Markus M. , Knapp Michael , Ludwig Kerstin U. 
Published: August 2013

AbstractNonsyndromic cleft lip with or without cleft palate (NSCL/P), the most common type of orofacial clefting, is one of the most frequent congenital defects. Based on epidemiological data, NSCL/P can be distinguished from nonsyndromic cleft palate only (NSCPO). Both phenotypes have a complex etiology and environmental and genetic factors are involved in their development. To date, genome‐wide association studies have identified 12 genetic factors that increase the risk for NSCL/P in Europeans. Six of them have been independently replicated in samples derived from the same population. The aim of the present study was to replicate the remaining six NSCL/P risk loci in chromosomal regions 1p22.1, 1p36, 3p11.1, 8q21.3, 15q22.2, and 20q12 in a family‐based sample of European descent. Each of the top‐associated SNPs (single nucleotide polymorphisms) was genotyped in 343 NSCL/P and 266 NSCPO nuclear trios. Single‐marker association analysis in the NSCL/P sample showed a significant association with SNP rs742071 (1p36, Pcorrected = 3.74 × 10−3), which is located in the intronic region of PAX7, a gene known to be functionally implicated in craniofacial development. Two additional loci, 1p22.1 and 20q12, were nominally significant, but did not withstand correction for multiple testing. There was no evidence that the NSCL/P risk alleles contribute to the etiology of NSCPO, further supporting that these two subtypes of orofacial clefting are primarily etiologically distinct. © 2013 Wiley Periodicals, Inc.