bluuebunny/crossref_metadata_2025_split huggingface dataset:
The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation
Authors: León-García Gregorio , Santana Alfredo , Villegas-Sepúlveda Nicolás , Pérez-González Concepción , Henrríquez-Esquíroz José M , de León-García Carlota , Wong Carlos , Baeza Isabel 
Published: September 2012

Abstract

Background
The ATP7A gene encodes the ATP7A protein, which is a trans-Golgi network copper transporter expressed in the brain and other organs. Mutations in this gene cause disorders of copper metabolism, such as Menkes disease. Here we describe the novel and unusual mutation (p.T1048I) in the ATP7A gene of a child with Menkes disease. The mutation affects a conserved DKTGT1048 phosphorylation motif that is involved in the catalytic activity of ATP7A. We also describe the clinical course and the response to copper treatment in this patient.

Case presentation
An 11-month-old male Caucasian infant was studied because of hypotonia, ataxia and global developmental delay. The patient presented low levels of serum copper and ceruloplasmin, and was shown to be hemizygous for the p.T1048I mutation in ATP7A. The diagnosis was confirmed when the patient was 18 months old, and treatment with copper-histidinate (Cu-His) was started immediately. The patient showed some neurological improvement and he is currently 8 years old. Because the p.T1048I mutation affects its catalytic site, we expected a complete loss of functional ATP7A and a classical Menkes disease presentation. However, the clinical course of the patient was mild, and he responded to Cu-His treatment, which suggests that this mutation leads to partial conservation of the activity of ATP7A.

Conclusion
This case emphasizes the important correlation between genotype and phenotype in patients with Menkes disease. The prognosis in Menkes disease is associated with early detection, early initiation of treatment and with the preservation of some ATP7A activity, which is necessary for Cu-His treatment response. The description of this new mutation and the response of the patient to Cu-His treatment will contribute to the growing body of knowledge about treatment response in Menkes disease.
Expression of ceramide-metabolising enzymes in subcutaneous and intra-abdominal human adipose tissue
Authors: Kolak Maria , Gertow Joanna , Westerbacka Jukka , Summers Scott A , Liska Jan , Franco-Cereceda Anders , Orešič Matej , Yki-Järvinen Hannele , Eriksson Per , Fisher Rachel M 
Published: September 2012

Abstract

Background
Inflammation and increased ceramide concentrations characterise adipose tissue of obese women with high liver fat content compared to equally obese women with normal liver fat content. The present study characterises enzymes involved in ceramide metabolism in subcutaneous and intra-abdominal adipose tissue.

Methods
Pathways leading to increased ceramide concentrations in inflamed versus non-inflamed adipose tissue were investigated by quantifying expression levels of key enzymes involved in ceramide metabolism. Sphingomyelinases (sphingomyelin phosphodiesterases SMPD1-3) were investigated further using immunohistochemistry to establish their location within adipose tissue, and their mRNA expression levels were determined in subcutaneous and intra-abdominal adipose tissue from both non-obese and obese subject.

Results
Gene expression levels of sphingomyelinases, enzymes that hydrolyse sphingomyelin to ceramide, rather than enzymes involved in de novo ceramide synthesis, were higher in inflamed compared to non-inflamed adipose tissue of obese women (with high and normal liver fat contents respectively). Sphingomyelinases were localised to both macrophages and adipocytes, but also to blood vessels and to extracellular regions surrounding vessels within adipose tissue. Expression levels of SMPD3 mRNA correlated significantly with concentrations of different ceramides and sphingomyelins. In both non-obese and obese subjects SMPD3 mRNA levels were higher in the more inflamed intra-abdominal compared to the subcutaneous adipose tissue depot.

Conclusions
Generation of ceramides within adipose tissue as a result of sphingomyelinase action may contribute to inflammation in human adipose tissue.
An induction of microRNA, miR-7 through estrogen treatment in breast carcinoma
Authors: Masuda Mariko , Miki Yasuhiro , Hata Shuko , Takagi Kiyoshi , Sakurai Minako , Ono Katsuhiko , Suzuki Koyu , Yang Yang , Abe Eriko , Hirakawa Hisashi , Ishida Takanori , Suzuki Takashi , Ohuchi Noriaki , Sasano Hironobu 
Published: September 2012

Abstract

Background
Estrogen plays an important role in the development of estrogen-dependent breast carcinoma. Recently, several studies demonstrated a possible involvement of several micro RNAs (miRNAs) in the development of resistance to endocrine therapy in breast cancer patients, but the correlation between estrogen actions and miRNA expression in breast carcinoma still remains largely unknown. Therefore, in this study, we examined the in vitro effects of estrogen upon miRNA expression profiles in breast carcinoma.

Methods
We first screened the miRNA expression profiles induced by 17β-Estradiol (E2) using RT2 miRNA PCR Array in the ER-positive breast carcinoma cell line MCF-7. We identified miR-7 as the important miRNA associated with estrogen actions in these cells and further examined the changes of estrogen-dependent EGFR expression by miR-7 in ER-positive or -negative breast carcinoma cell lines including MCF-7. We also evaluated the correlation between miR-7 and EGFR expression in breast carcinoma cells derived from 21 patients using laser capture microdissection combined with quantitative reverse transcriptase-PCR.

Results
Seventeen miRNAs were significantly induced by E2 treatment in the MCF-7 cell line. Among 17 miRNAs induced by estradiol treatment, only miR-7 expression was significantly decreased by subsequent ICI treatment. The expression of miR-7 was up-regulated 2.94-fold by E2 treatment. miR-7 was reported to suppress epidermal growth factor receptor (EGFR) expression in several human malignancies. Transfection of miR-7 significantly suppressed EGFR mRNA levels in MCF-7 cells. Depletion of E2 from cell culture media also increased the expression level of EGFR mRNA in MCF-7 and T-47D cells but not in ER-negative, MDA-MB-231 and SK-BR-3 cells. We also evaluated the status of miR-7 in breast carcinoma tissues, but the correlation between the status of miR-7 and EGFR in carcinoma cells isolated by laser capture microscopy was not detected.

Conclusions
These results suggest that miR-7 may play a role in the development of resistance to endocrine therapy in breast cancer patients through regulating EGFR expression of carcinoma cells.
Comparing serum levels of cardiac biomarkers in cancer patients receiving chemotherapy and subjects with chronic periodontitis
Authors: Loo Wings TY , Yue Yuan , Fan Chang-bin , Bai Lan-jun , Dou Yi-ding , Wang Min , Liang Hao , Cheung Mary NB , Chow Louis WC , Li Jin-le , Tian Ye , Qing Liu 
Published: September 2012

Abstract

Background
Chronic periodontitis (CP) is a chronic inflammation associated with elevations of several inflammatory and cardiac markers. Studies implicated CP as one of the etiologies in coronary heart disease (CHD). Cardiotoxicity is a major complication of anticancer drugs, including anthracyclines and 5-fluorouracil (5FU). The most severe cardiac complications are heart failure, arrhythmia and coronary heart disease (CHD). In this study, we compared the level of inflammatory factors and cardiac markers between chronic periodontitis patients and cancer patients receiving chemotherapy.

Methods
108 blood samples of periodontally healthy subjects were obtained on random from Hong Kong Red Cross, and these represented the controlled population. Forty-four patients diagnosed with chronic periodontitis were recruited from the West China Hospital of Stomatology, Sichuan University. They have received scaling and root planning with mean pocket depths of 6.05 mm. Thirty breast cancer patients diagnosed with invasive ductal carcinoma from UNIMED Medical Institute, Hong Kong gave consent to participate in this study. They received 4 cycles of 500mg/m2 5-fluorouracil, 75 mg/m2 epirubicin and 500mg/m2 cyclophosphamide at a 3-week interval between each cycle. Peripheral venous blood from each group was taken for measurement of blood cells, inflammatory marker (P-selectin, high sensitvity C-reactive protein) and cardiac markers (troponin T; troponin I; N-terminal pro brain natriuretic peptide (Nt-proBNP) and Lactate dehydrogenase (LDH).

Results
The lymphocyte count was higher (p < 0.05) in periodontitis patients than the other two groups, and more neutrophils (p < 0.05) were seen in cancer patients receiving chemotherapy. The two test groups demonstrated higher levels (p < 0.01) of inflammatory and cardiac markers than the control group.

Conclusions
The elevated cardiac markers found in periodontitis patients suggested that they may carry potential risks in developing cardiac lesions. Troponin T, troponin I, pro-BNP, LDH and high sensitvity C-reactive protein may be used as markers to monitor cardiac lesions in chronic inflammatory patients.
Anti-periodic solutions for nonlinear evolution equations
Authors: Cheng Yi , Cong Fuzhong , Hua Hongtu 
Published: September 2012

Abstract
In this paper, we use the homotopy method to establish the existence and uniqueness of anti-periodic solutions for the nonlinear anti-periodic problem

{

x
˙

+
A
(
t
,
x
)
+
B
x
=
f
(
t
)

a.e.
t
∈
R
,

x
(
t
+
T
)
=
−
x
(
t
)
,

where

A
(
t
,
x
)

is a nonlinear map and B is a bounded linear operator from

R
N

to

R
N

. Sufficient conditions for the existence of the solution set are presented. Also, we consider the nonlinear evolution problems with a perturbation term which is multivalued. We show that, for this problem, the solution set is nonempty and weakly compact in

W

1
,
2

(
I
,

R
N

)

for the case of convex valued perturbation and prove the existence theorems of anti-periodic solutions for the nonconvex case. All illustrative examples are provided.
Primary pulmonary malignant melanoma: a clinicopathologic study of two cases
Authors: Gong Li , Liu Xiao-Yan , Zhang Wen-Dong , Zhu Shao-Jun , Yao Li , Han Xiu-Juan , Lan Miao , Li Yan-Hong , Zhang Wei 
Published: September 2012

Abstract

Abstract
Malignant melanoma involving the respiratory tract is nearly always metastatic in origin, and primary tumors are very rare. To our knowledge, about 30 cases have been reported in the English literature, one of which involved multiple brain metastases. Here, we report two cases of primary pulmonary malignant melanoma. The first case, which occurred in a 52-year-old Chinese female patient who died 4 months after the initial diagnosis, involved rapid intrapulmonary and intracranial metastases. The second patient, a 65-year-old female, underwent surgical excision, and clinical examination, histopathological characteristics, and immunohistochemical features supported the diagnosis of pulmonary malignant melanoma. No evidence for recurrence and/or metastasis has been found more than one year after the initial surgery. To establish the diagnosis of primary pulmonary malignant melanoma, any extrapulmonary origin must be excluded by detailed examination. Moreover, the tumor should be removed surgically whether it occurs as a single lesion or multiple lesions.

Virtual slide
The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1480477335765055.
Anterolateral minithoracotomy versus median sternotomy for the treatment of congenital heart defects: a meta-analysis and systematic review
Authors: Ding Chao , Wang Chunmao , Dong Aiqiang , Kong Minjian , Jiang Daming , Tao Kaiyu , Shen Zhonghua 
Published: September 2012

Abstract

Background
Anterolateral Minithoracotomy (ALMT) for the radical correction of Congenital Heart Defects is an alternative to Median Sternotomy (MS) due to reduce operative trauma accelerating recovery and yield a better cosmetic outcome after surgery. Our purpose is to conduct whether ALMT would bring more short-term benefits to patients than conventional Median Sternotomy by using a meta-analysis of case–control study in the published English Journal.

Methods
6 case control studies published in English from 1997 to 2011 were identified and synthesized to compare the short-term postoperative outcomes between ALMT and MS. These outcomes were cardiopulmonary bypass time, aortic cross-clamp time, intubation time, intensive care unit stay time, and postoperative hospital stay time.

Results
ALMT had significantly longer cardiopulmonary bypass times (8.00 min more, 95% CI 0.36 to 15.64 min, p = 0.04). Some evidence proved that aortic cross-clamp time of ALMT was longer, yet not significantly (2.38 min more, 95% CI −0.15 to 4.91 min, p = 0.06). In addition, ALMT had significantly shorter intubation time (1.66 hrs less, 95% CI −3.05 to −0.27 hrs, p = 0.02). Postoperative hospital stay time was significantly shorter with ALMT (1.52 days less, 95% CI −2.71 to −0.33 days, p = 0.01). Some evidence suggested a reduction in ICU stay time in the ALMT group. However, this did not prove to be statistically significant (0.88 days less, 95% CI −0.81 to 0.04 days, p = 0.08).

Conclusion
ALMT can bring more benefits to patients with Congenital Heart Defects by reducing intubation time and postoperative hospital stay time, though ALMT has longer CPB time and aortic cross-clamp time.
Cleavage pattern and fate map of the mesentoblast, 4d, in the gastropod Crepidula: a hallmark of spiralian development
Authors: Lyons Deirdre C , Perry Kimberly J , Lesoway Maryna P , Henry Jonathan Q 
Published: September 2012

Abstract

Background
Animals with a spiral cleavage program, such as mollusks and annelids, make up the majority of the superphylum Lophotrochozoa. The great diversity of larval and adult body plans in this group emerges from this highly conserved developmental program. The 4d micromere is one of the most conserved aspects of spiralian development. Unlike the preceding pattern of spiral divisions, cleavages within the 4d teloblastic sublineages are bilateral, representing a critical transition towards constructing the bilaterian body plan. These cells give rise to the visceral mesoderm in virtually all spiralians examined and in many species they also contribute to the endodermal intestine. Hence, the 4d lineage is an ideal one for studying the evolution and diversification of the bipotential endomesodermal germ layer in protostomes at the level of individual cells. Little is known of how division patterns are controlled or how mesodermal and endodermal sublineages diverge in spiralians. Detailed modern fate maps for 4d exist in only a few species of clitellate annelids, specifically in glossiphoniid leeches and the sludge worm Tubifex. We investigated the 4d lineage in the gastropod Crepidula fornicata, an established model system for spiralian biology, and in a closely related direct-developing species, C. convexa.

Results
High-resolution cell lineage tracing techniques were used to study the 4d lineage of C. fornicata and C. convexa. We present a new nomenclature to name the progeny of 4d, and report the fate map for the sublineages up through the birth of the first five pairs of teloblast daughter cells (when 28 cells are present in the 4d sublineage), and describe each clone’s behavior during gastrulation and later stages as these undergo differentiation. We identify the precise origin of the intestine, two cells of the larval kidney complex, the larval retractor muscles and the presumptive germ cells, among others. Other tissues that arise later in the 4d lineage include the adult heart, internal foot tissues, and additional muscle and mesenchymal cells derived from later-born progeny of the left and right teloblasts. To test whether other cells can compensate for the loss of these tissues (that is, undergo regulation), specific cells were ablated in C. fornicata.

Conclusions
Our results present the first fate map of the 4d micromere sublineages in a mollusk. The fate map reveals that endodermal and mesodermal fates segregate much later than previously thought. We observed little evidence of regulation between sublineages, consistent with a lineage-driven cell specification process. Our results provide a framework for comparisons with other spiralians and lay the groundwork for investigation of the molecular mechanisms of endomesoderm formation, germ line segregation and bilateral differentiation in Crepidula.
KNDy (Kisspeptin/Neurokinin B/Dynorphin) Neurons Are Activated during Both Pulsatile and Surge Secretion of LH in the Ewe
Authors: Merkley Christina M. , Porter Katrina L. , Coolen Lique M. , Hileman Stanley M. , Billings Heather J. , Drews Sara , Goodman Robert L. , Lehman Michael N. 
Published: September 2012

Abstract
KNDy (kisspeptin/neurokinin B/dynorphin) neurons of the arcuate nucleus (ARC) appear to mediate the negative feedback actions of estradiol and are thought to be key regulators of pulsatile LH secretion. In the ewe, KNDy neurons may also be involved with the positive feedback actions of estradiol (E2) to induce the LH surge, but the role of kisspeptin neurons in the preoptic area (POA) remains unclear. The goal of this study was to identify which population(s) of kisspeptin neurons is (are) activated during the LH surge and in response to the removal of E2-negative feedback, using Fos as an index of neuronal activation. Dual-label immunocytochemistry for kisspeptin and Fos was performed on sections containing the ARC and POA from ewes during the luteal phase of the estrous cycle, or before or after the onset of the LH surge (experiment 1), and from ovary-intact, short-term (24 h) and long-term (&gt;30 d) ovariectomized (OVX) ewes in anestrus (experiment 2). The percentage of kisspeptin neurons expressing Fos in both the ARC and POA was significantly higher during the LH surge. In contrast, the percentage of kisspeptin/Fos colocalization was significantly increased in the ARC, but not POA, after both short- and long-term E2 withdrawal. Thus, POA kisspeptin neurons in the sheep are activated during, and appear to contribute to, E2-positive feedback, whereas ARC kisspeptin (KNDy) neurons are activated during both surge and pulsatile modes of secretion and likely play a role in mediating both positive and negative feedback actions of E2 on GnRH secretion in the ewe.
Building a Movement, Dismantling the Republic: Women, Gender, and Political Extremism in the Croix de Feu/Parti Social Français, 1927–1940
Authors: Campbell Caroline 
Published: September 2012

Women were at the center of extremist politics in the late Third Republic. This article focuses on one of the largest political movements in French history, the Croix de Feu, and enters into a debate over the degree of women’s influence on the movement and its conception of women’s role in French society. Informed by rich archival records, it concludes that a multivalent gender ideology enabled Croix de Feu women to subvert a powerful “women in the home” movement by placing themselves at the center of national rejuvenation. They did so by appropriating republican conceptions of civic space to build an ultranationalistic social program. Organizing a women’s section from scratch, Croix de Feu women implemented the movement’s social program in over 90 percent of French departments, ultimately contributing to a rightward shift in 1930s French political culture and laying the groundwork for the Vichy regime.
Cet article examine les femmes et la politiques d’extrême droite dans l’entredeuxguerres. En se concentrant sur l’un des plus grands mouvements politiques dans l’histoire française, les Croix de feu, l’article entre dans un débat sur l’influence féminine sur le mouvement et sur sa conception du rôle des femmes dans la société française. Un clair examen des femmes Croix de feu démontre qu’elles étaient au centre des activités les plus importantes du mouvement. Elles ont utilisé une idéologie du genre qui défi une campagne du retour « la femme au foyer » et qui plaçait les femmes au centre d’une renaissance nationale. Ces femmes militantes se sont servies des conceptions républicaines de l’espace civique afin de construire un programme social et ultranationaliste. Elles ont organisé une section féminine et mis en œuvre leur programme social dans plus de 90 pour cent de départements français. Ainsi, les femmes Croix de feu ont influencé la culture politique française et ont contribué à l’avènement du régime de Vichy.
Political Surveillance and Colonial Urban Rule: “Suspicious” Politics and Urban Space in Dakar, Senegal, 1918–1939
Authors: Keller Kathleen A. 
Published: September 2012

Police surveillance in interwar Dakar, Senegal, was initiated because of anxieties about the influence of international politics in the empire, but surveillance quickly became a phenomenon of urban control. This article analyzes the emergence, implementation, and broader implications of police surveillance to shed light on the way French colonial authorities imagined and attempted to impose order on cities. Surveillance of “suspicious” persons developed primarily in urban areas because the profile of a suspect was shaped by fears of an increasingly cosmopolitan and diverse population in the interwar era. Police tactics were influenced by republicanstyle methods from the metropole and relied on the legibility of urban space, creating a unique urban surveillance that contrasted with rural methods. Despite this desire for ubiquitous surveillance, some urban spaces escaped the purview of colonial authorities and some individuals evaded state control.
Cet article consacré à la surveillance policière à Dakar met en lumière la manière dont la surveillance politique de l’entredeuxguerres s’est constituée comme un phénomène urbain. Ce programme de contrôle urbain révèle une façon d’imaginer et d’essayer d’imposer l’ordre dans la ville de la part des autorités. La surveillance des « suspects » en Afrique Occidentale Française s’est développée dans l’espace urbain à cause de la crainte des autorités d’une population urbaine de plus en plus cosmopolite et contrastée. Les stratégies utilisées par les autorités ont été élaborées au prisme des méthodes républicaines de la métropole. Dépendantes pour leur conception de la lisibilité de l’espace urbain, elles ont généré une forme unique de surveillance en opposition à la surveillance rurale. Malgré le désir des autorités de créer un mode de contrôle omniprésent, certains espaces urbains échappaient néanmoins au regard de l’état et certains individus arrivaient à se soustraire à ces méthodes policières.