2,290 results match your criteria Menkes Disease


Novel gene mutation in a patient with Menkes disease.

Appl Clin Genet 2018 22;11:151-155. Epub 2018 Nov 22.

Health Sciences Faculty, Universidad Icesi, Cali, Colombia,

Background: Menkes disease is a congenital neurodegenerative disorder caused by gene mutations. Clinical features include epilepsy, growth delay, reduced muscle strength, skin laxity, abnormal hair, and urologic abnormalities.

Case Presentation: We describe an infant with developmental delay, neurologic degeneration, and kinky hair. Read More

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November 2018
3 Reads

Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!

J Pediatr 2018 Oct 24. Epub 2018 Oct 24.

Department of Radio Diagnosis and Imaging Postgraduate Institute of Medical Education and Research Chandigarh, India.

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October 2018

Responding to the UN Special Rapporteur's anti-psychiatry bias.

Aust N Z J Psychiatry 2018 Dec 10:4867418818359. Epub 2018 Dec 10.

2 Department of Psychological Medicine, The University of Auckland, Hamilton, New Zealand.

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December 2018

Pharmacological interactions: more reason to regard alcohol as a drug.

Authors:
David B Menkes

BMJ 2018 Nov 28;363:k4952. Epub 2018 Nov 28.

Waikato Clinical Campus, University of Auckland, Private Bag 3200, Hamilton 3240, New Zealand.

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November 2018

Attitudes of general hospital consultants towards psychosocial and psychiatric problems in Netherlands.

Psychol Health Med 2018 Nov 21:1-12. Epub 2018 Nov 21.

a Department of Hospital Psychiatry , Amsterdam UMC, location VUmc , Amsterdam , The Netherlands.

Psychosocial and psychiatric problems are common in patients admitted to general hospitals, and can negatively influence course of somatic diseases. Hence, early identification and adequate management is important. The aim of this study is to investigate attitudes towards psychosocial and psychiatric problems by non-psychiatrist consultants in an academic hospital. Read More

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November 2018
10 Reads

Cu selective chelators relieve copper-induced oxidative stress .

Chem Sci 2018 Nov 2;9(41):7916-7930. Epub 2018 Oct 2.

Department of Chemical Sciences , Tata Institute of Fundamental Research , 1 Homi Bhabha Road, Colaba , Mumbai-400005 , India . Email:

Copper ions are essential for biological function yet are severely detrimental when present in excess. At the molecular level, copper ions catalyze the production of hydroxyl radicals that can irreversibly alter essential bio-molecules. Hence, selective copper chelators that can remove excess copper ions and alleviate oxidative stress will help assuage copper-overload diseases. Read More

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November 2018

Predictable and precise template-free CRISPR editing of pathogenic variants.

Nature 2018 Nov 7;563(7733):646-651. Epub 2018 Nov 7.

Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.

Following Cas9 cleavage, DNA repair without a donor template is generally considered stochastic, heterogeneous and impractical beyond gene disruption. Here, we show that template-free Cas9 editing is predictable and capable of precise repair to a predicted genotype, enabling correction of disease-associated mutations in humans. We constructed a library of 2,000 Cas9 guide RNAs paired with DNA target sites and trained inDelphi, a machine learning model that predicts genotypes and frequencies of 1- to 60-base-pair deletions and 1-base-pair insertions with high accuracy (r = 0. Read More

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November 2018
9 Reads
42.351 Impact Factor

Chelating principles in Menkes and Wilson diseases: Choosing the right compounds in the right combinations at the right time.

J Inorg Biochem 2019 Jan 23;190:98-112. Epub 2018 Oct 23.

Innlandet Hospital, Norway; Inland Norway University of Applied Sciences, Elverum, Norway. Electronic address:

Dysregulation of copper homeostasis in humans is primarily found in two genetic diseases of copper transport, Menkes and Wilson diseases, which show symptoms of copper deficiency or overload, respectively. However, both diseases are copper storage disorders despite completely opposite clinical pictures. Clinically, Menkes disease is characterized by copper deficiency secondary to poor loading of copper-requiring enzymes although sufficient body copper. Read More

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January 2019
8 Reads

ATP7A and ATP7B copper transporters have distinct functions in the regulation of neuronal DOPAMINE-β-HYDROXYLASE.

J Biol Chem 2018 Oct 19. Epub 2018 Oct 19.

Department of Physiology, Johns Hopkins University, United States.

The ATPase copper-transporting alpha (ATP7A) and ATPase copper-transporting beta (ATP7B) are essential for normal function of the mammalian central nervous system. Inactivation of ATP7A or ATP7B causes the severe neurological disorders: Menkes disease and Wilson disease, respectively. In both diseases, Cu imbalance is associated with abnormal levels of catecholamine-type neurotransmitters-dopamine and norepinephrine. Read More

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October 2018

Emergent embolization of a ruptured splenic artery aneurysm complicating Menkes disease.

Radiol Case Rep 2018 Dec 23;13(6):1267-1270. Epub 2018 Sep 23.

Department of Radiology, Division of Interventional Radiology, University of Washington, Seattle, WA, USA.

We report a 7-year-old boy with Menkes disease complicated by rupture of a large splenic artery aneurysm. The aneurysm was successfully embolized with microcoils and n-butyl cyanoacrylate. Further angiographic evaluation revealed marked tortuosity of mesenteric and lower extremity vasculature, including the femoral arteries bilaterally, without aneurysm formation. Read More

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December 2018
4 Reads

Nerve conduction studies and EMG in carpal tunnel syndrome: Do they add value?

Clin Neurophysiol Pract 2018 5;3:78-88. Epub 2018 Apr 5.

Department of Neurology, Royal Prince Alfred Hospital and University of Sydney, Sydney, Australia.

This paper summarises the views of four experts on the place of neurophysiological testing (EDX) in patients presenting with possible carpal tunnel syndrome, in guiding their treatment, and in reevaluations. This is not meant to be a position paper or a literature review, and heterogeneous viewpoints are presented. Nerve conduction studies should be performed in patients presenting with possible carpal tunnel syndrome to assist diagnosis, and may need to be repeated at intervals in those managed conservatively. Read More

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April 2018
1 Read

Disulfiram enhanced delivery of orally administered copper into the central nervous system in Menkes disease mouse model.

J Inherit Metab Dis 2018 Aug 21. Epub 2018 Aug 21.

Laboratory for Pathophysiological and Health Science, RIKEN Center for Biosystems Dynamics Research and Center for Life Science Technologies, Kobe, Hyogo, Japan.

Introduction: Menkes disease (MD) is an X-linked recessive disorder caused by dysfunction of a copper-transporting protein, leading to severe neurodegeneration in early childhood. We investigated whether a lipophilic copper chelator, disulfiram, could enhance copper absorption from the intestine and transport copper across the blood-brain barrier in MD model mice.

Methods: Wild type and MD model mice were pretreated with disulfiram for 30 min before oral administration of CuCl. Read More

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Menkes disease: Oral administration of glyoxal-bis(N(4)-methylthiosemicarbazonato)-copper(II) rescues the macular mouse.

Pediatr Res 2018 Nov 17;84(5):770-777. Epub 2018 Jul 17.

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

Background: Menkes disease is a copper metabolism disorder caused by mutations in ATP7A, a copper-transporting P-type ATPase. In this study, oral copper supplementation via glyoxal-bis(N(4)-methylthiosemicarbazonato)-copper(II) (CuGTSM), a lipophilic copper complex, was investigated in male hemizygous macular (Mo) mice, a mouse model of Menkes disease.

Methods: CuGTSM was administered by oral gavage on postnatal days 5, 8, 11, 17, 23, and 32. Read More

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November 2018
4 Reads

Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model.

Mol Ther Methods Clin Dev 2018 Sep 9;10:165-178. Epub 2018 Jul 9.

Section on Translational Neuroscience, Molecular Medicine Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.

Menkes disease is a lethal neurodegenerative disorder of copper metabolism caused by mutations in an evolutionarily conserved copper transporter, ATP7A. Based on our prior clinical and animal studies, we seek to develop a therapeutic approach suitable for application in affected human subjects, using the () mouse model that closely mimics the Menkes disease biochemical and clinical phenotypes. Here, we evaluate the efficacy of low-, intermediate-, and high-dose recombinant adeno-associated virus serotype 9 (rAAV9)-ATP7A delivered to the cerebrospinal fluid (CSF), in combination with subcutaneous administration of clinical-grade copper histidinate (sc CuHis, IND #34,166). Read More

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September 2018
7 Reads

Iron from a submarine source impacts the productive layer of the Western Tropical South Pacific (WTSP).

Sci Rep 2018 Jun 13;8(1):9075. Epub 2018 Jun 13.

Aix Marseille Université, CNRS/Institut National des Sciences de l'Univers, Université de Toulon, Institut de Recherche pour le Développement, Observatoire des Sciences de l'Univers Pythéas, Mediterranean Institute of Oceanography (MIO), F-13288, Marseille, France.

In the Western Tropical South Pacific, patches of high chlorophyll concentrations linked to the occurrence of N-fixing organisms are found in the vicinity of volcanic islands. The survival of these organisms relies on a high bioavailable iron supply whose origin and fluxes remain unknown. Here, we measured high dissolved iron (DFe) concentrations (up to 66 nM) in the euphotic layer, extending zonally over 10 degrees longitude (174 E-175 W) at ∼20°S latitude. Read More

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June 2018
3 Reads

Growing skull fracture at birth: a rare presentation of Menkes disease.

Arch Dis Child 2018 May 31. Epub 2018 May 31.

Paediatrics and Neonatology, Ninewells Hospital and Medical School, Dundee, UK.

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May 2018
1 Read

Neuroimaging findings in Menkes disease: a rare neurodegenerative disorder.

BMJ Case Rep 2018 May 22;2018. Epub 2018 May 22.

Department of Radiodiagnosis and Imaging, RML Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Menkes disease is a rare neurodegenerative metabolic disease with a reported incidence of 1 per 300 000 live births. It occurs due to mutations in ATP7A gene located on X-chromosome leading to deficiency of several copper-containing enzymes. The patient presents with history of neuroregression with characteristic kinky hair. Read More

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May 2018
13 Reads

What interests should be disclosed to journals?

Authors:
David B Menkes

BMJ 2018 May 14;361:k2078. Epub 2018 May 14.

Waikato Clinical Campus, University of Auckland, Private Bag 3200, Hamilton, New Zealand.

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What affects completion of the scholarly project? A survey of RANZCP trainees.

Australas Psychiatry 2018 Oct 8;26(5):545-550. Epub 2018 May 8.

Department of Psychological Medicine, University of Auckland, Auckland, New Zealand.

Objective: To explore trainee perception of what facilitates or delays completion of the RANZCP Scholarly Project (SP).

Method: Of 182 currently registered New Zealand trainees, 33 (18%) completed an online questionnaire and three open-ended questions.

Results: Most trainees agreed or strongly agreed that having protected time for research (87. Read More

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October 2018
3 Reads

Vacuolization in Myeloid and Erythroid Precursors in a child with Menkes Disease.

Turk J Haematol 2018 04 30. Epub 2018 Apr 30.

Hacettepe University, Faculty of Medicine, Department of Child Health and Diseases, Hematology Unit, Ankara, Turkey.

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Differential Reactivity of Metal Binding Domains of Copper ATPases towards Cisplatin and Colocalization of Copper and Platinum.

Chemistry 2018 Jun 30;24(36):8999-9003. Epub 2018 May 30.

CAS Key Laboratory of Soft Matter Chemistry, Department of Chemistry, University of Science and Technology of China, Hefei, Anhui, 230026, China.

The Menkes (MNK) and Wilson (WLN) disease proteins are two P-type ATPases responsible for active Cu efflux. These ATPases are also associated with resistance to cisplatin. In this work, different metal-binding domains (MBDs) of ATPases (9 out of 12 domains) were compared based on their reactivity towards cisplatin. Read More

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Neuroimaging in Menkes Disease.

J Pediatr Neurosci 2017 Oct-Dec;12(4):378-382

Leicester Royal Infirmary, University Hospitals of Leicester, Leicester, United Kingdom.

Menkes disease (MD) is a rare infantile onset neurodegenerative disorder due to mutations in the X linked gene. These patients can present with failure to thrive, severe psychomotor retardation, seizures and hypopigmented hair, which is characteristic of this condition. A number of neuro-radiological findings have been reported in this condition. Read More

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April 2018
4 Reads

Interaction between the AAA ATPase p97/VCP and a concealed UBX domain in the copper transporter ATP7A is associated with motor neuron degeneration.

J Biol Chem 2018 May 29;293(20):7606-7617. Epub 2018 Mar 29.

From the Section on Translational Neuroscience, Molecular Medicine Branch, Eunice Kennedy Shriver NICHD, National Institutes of Health, Bethesda, Maryland 20892-3754

The copper-transporting ATPase ATP7A contains eight transmembrane domains and is required for normal human copper homeostasis. Mutations in the ATP7A gene may lead to infantile-onset cerebral degeneration (Menkes disease); occipital horn syndrome (OHS), a related but much milder illness; or an adult-onset isolated distal motor neuropathy. The ATP7A missense mutation T994I is located in the sixth transmembrane domain of ATP7A, represents one of the variants associated with the latter phenotype, and is associated with an abnormal interaction with p97/valosin-containing protein (VCP), a hexameric AAA ATPase (ATPase associated with diverse cellular activities) with multiple biological functions. Read More

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May 2018
5 Reads

Somatic sprouts of the Purkinje cells in a patient with multiple system atrophy.

Neuropathology 2018 Mar 25. Epub 2018 Mar 25.

Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.

We describe the post mortem case of a 71-year-old Japanese woman diagnosed as having multiple system atrophy (MSA), showing somatic sprouting formation of Purkinje cells. The patient had suffered from frequent falling episodes and clumsiness of the left hand since the age of 67 years. Orthostatic hypotension and parkinsonism subsequently emerged. Read More

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March 2018
1 Read

Trade Agreements and Direct-to-Consumer Advertising of Pharmaceuticals.

Int J Health Policy Manag 2017 10 16;7(2):98-100. Epub 2017 Oct 16.

Waikato Clinical Campus, University of Auckland, Auckland, New Zealand.

There is growing international concern about the risks posed by direct-to-consumer advertising (DTCA) of prescription pharmaceuticals, including via the internet. Recent trade agreements negotiated by the United States, however, incorporate provisions that may constrain national regulation of DTCA. Some provisions explicitly mention DTCA; others enable foreign investors to seek compensation if new regulations are seen to harm their investments. Read More

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October 2017

Climate change, human health and the CPTPP.

N Z Med J 2018 03 9;131(1471):7-12. Epub 2018 Mar 9.

Clinical Director Canterbury Regional Forensic Service and Senior Clinical Lecturer, Christchurch School of Medicine, University of Otago, Christchurch.

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March 2018
3 Reads

Multimodal LA-ICP-MS and nanoSIMS imaging enables copper mapping within photoreceptor megamitochondria in a zebrafish model of Menkes disease.

Metallomics 2018 03 6;10(3):474-485. Epub 2018 Mar 6.

Department of Chemistry, University of California, Berkeley, California, USA. and Howard Hughes Medical Institute, University of California, Berkeley, California, USA and Department of Molecular and Cellular Biology, University of California, Berkeley, California, USA and Chemical Sciences Division, Lawrence Berkeley National Laboratory, Berkeley, California, USA.

Copper is essential for eukaryotic life, and animals must acquire this nutrient through the diet and distribute it to cells and organelles for proper function of biological targets. Indeed, mutations in the central copper exporter ATP7A contribute to a spectrum of diseases, including Menkes disease, with symptoms ranging from neurodegeneration to lax connective tissue. As such, a better understanding of the fundamental impacts of ATP7A mutations on in vivo copper distributions is of relevance to those affected by these diseases. Read More

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Spontaneous retroperitoneal hemorrhage in Menkes disease: A rare case report.

Medicine (Baltimore) 2018 Feb;97(6):e9869

Department of Pediatric Gastroenterology, Hepatology and Nutrition.

Rationale: Menkes disease (MD), also known as Menkes kinky hair disease, is a fatal neurodegenerative disease caused by a defect in copper metabolism. The symptoms involve multiple organ systems, such as the brain, lung, gastrointestinal tract, urinary tract, connective tissue, and skin. There is currently no cure for this disease entity, and patients with the classic form of MD usually die from complications between 6 months and 3 years of age. Read More

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February 2018
3 Reads

Rare Disease Mechanisms Identified by Genealogical Proteomics of Copper Homeostasis Mutant Pedigrees.

Cell Syst 2018 Mar 31;6(3):368-380.e6. Epub 2018 Jan 31.

Department of Cell Biology, Emory University, Atlanta, GA 30322, USA. Electronic address:

Rare neurological diseases shed light onto universal neurobiological processes. However, molecular mechanisms connecting genetic defects to their disease phenotypes are elusive. Here, we obtain mechanistic information by comparing proteomes of cells from individuals with rare disorders with proteomes from their disease-free consanguineous relatives. Read More

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March 2018
5 Reads

[Recent Trends of Trace Element Studies in Clinical Medicine in Japan].

Authors:
Hiroko Kodama

Nihon Eiseigaku Zasshi 2018 ;73(1):75-82

Department of Health and Dietetics, Faculty of Health and Medical Sciences, Teikyo Heisei University.

The deficiency or excess intake of trace elements, including zinc, copper, selenium and iodine, has often been reported. Zinc deficiency is often observed in infants fed breast milk with low zinc concentration, individuals administered chelating medicines, athletes and patients with diabetes mellitus, hepatic cirrhosis or nephrosis syndrome. Menkes disease is associated with severe copper deficiency, and there is no effective treatment. Read More

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February 2018
1 Read

Disorders of metal metabolism.

Transl Sci Rare Dis 2017 Dec 18;2(3-4):101-139. Epub 2017 Dec 18.

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.

Trace elements are chemical elements needed in minute amounts for normal physiology. Some of the physiologically relevant trace elements include iodine, copper, iron, manganese, zinc, selenium, cobalt and molybdenum. Of these, some are metals, and in particular, transition metals. Read More

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December 2017
2 Reads

Ethnic youth and sexual identity: the role of clinical and social support for 'double minorities'.

Australas Psychiatry 2018 Apr 15;26(2):181-183. Epub 2018 Jan 15.

Academic Psychiatrist, University of Auckland, Auckland, New Zealand.

Objectives: Sexual-minority youth exhibit increased rates of psychiatric morbidity, subject to various social factors. We examine the impact of ethnicity and culture on these phenomena, with particular reference to Asian youth living in Western societies.

Conclusions: Youth from minority ethnic groups who do not identify with their native gender and/or who are not exclusively heterosexual are known as 'double minorities'. Read More

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April 2018
1 Read

Dynamic changes in copper homeostasis and post-transcriptional regulation of Atp7a during myogenic differentiation.

Metallomics 2018 02;10(2):309-322

Department of Biology, Emory University, 1510 Clifton Road, Atlanta, GA 30322, USA.

Copper (Cu) is an essential metal required for activity of a number of redox active enzymes that participate in critical cellular pathways such as metabolism and cell signaling. Because it is also a toxic metal, Cu must be tightly controlled by a series of transporters and chaperone proteins that regulate Cu homeostasis. The critical nature of Cu is highlighted by the fact that mutations in Cu homeostasis genes cause pathologic conditions such as Menkes and Wilson diseases. Read More

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February 2018
6 Reads

Wilson disease and related copper disorders.

Handb Clin Neurol 2018 ;147:279-292

Department of Neurology, University of Michigan Health Systems, Ann Arbor, MI, United States. Electronic address:

Copper is a required cofactor for enzymes in critical metabolic pathways. Mutations in copper metabolism genes or abnormalities in copper metabolism result in disease from copper excess or deficiency. Wilson disease (WD) is an autosomal-recessive disease caused by mutations in the ATP7B gene which encodes a copper-transporting ATPase. Read More

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July 2018
3 Reads

The Pivotal Role of Copper in Neurodegeneration: A New Strategy for the Therapy of Neurodegenerative Disorders.

Mol Pharm 2018 Mar 2;15(3):808-820. Epub 2018 Feb 2.

Dipartimento di Farmacia-Scienze del Farmaco , Università degli Studi di Bari Aldo Moro , Via Orabona 4 , 70125 , Bari , Italy.

Copper is an essential trace element for the human body since it is a cofactor of several enzymes and proteins and plays a pivotal role in several biological functions (e.g., respiration, protection from oxidative damage, iron metabolism, etc. Read More

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March 2018
2 Reads

Copper and Zinc Homeostasis: Lessons from .

Front Genet 2017 21;8:223. Epub 2017 Dec 21.

Department of Developmental Biology, Institute of Zoology, University of Regensburg, Regensburg, Germany.

Maintenance of metal homeostasis is crucial for many different enzymatic activities and in turn for cell function and survival. In addition, cells display detoxification and protective mechanisms against toxic accumulation of metals. Perturbation of any of these processes normally leads to cellular dysfunction and finally to cell death. Read More

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December 2017
9 Reads

Steady-State Clozapine and Norclozapine Pharmacokinetics in Maori and European Patients.

EBioMedicine 2018 Jan 13;27:134-137. Epub 2017 Dec 13.

Zenith Technology, 156 Frederick Street, Dunedin 9016, New Zealand. Electronic address:

Background: Clozapine is the most effective drug for treatment-resistant schizophrenia, but its use is limited by toxicity. Because ethnicity has been reported to affect clozapine metabolism, we compared its steady state pharmacokinetics in New Zealand Maori and European patients.

Methods: Clozapine and norclozapine steady state bioavailability was assessed over 24h under fasting and fed conditions in 12 Maori and 16 European patients treated for chronic psychotic illnesses with stable once-daily clozapine doses. Read More

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January 2018
4 Reads

What Does 'Unpaid Consultant' Signify? A Survey of Euphemistic Language in Conflict of Interest Declarations.

J Gen Intern Med 2018 Feb;33(2):139-141

Department of Family Medicine, University of Alabama, Tuscaloosa, USA.

Background And Objective: Inadequate competing interest declarations present interpretive challenges for editors, reviewers, and readers. We systematically studied a common euphemism, 'unpaid consultant,' to determine its occurrence in declarations and its association with vested interests, authors, and journals.

Methods: We used Google Scholar, a search engine that routinely includes disclosures, to identify 1164 occurrences and 787 unique biomedical journal publications between 1994 and 2014 that included one or more authors declaring themselves as an "unpaid consultant. Read More

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February 2018

Tuning the Color Palette of Fluorescent Copper Sensors through Systematic Heteroatom Substitution at Rhodol Cores.

ACS Chem Biol 2018 Jul 7;13(7):1844-1852. Epub 2017 Nov 7.

Department of Chemistry , University of California , Berkeley , California 94720 , United States.

Copper is an essential nutrient for sustaining life, and emerging data have expanded the roles of this metal in biology from its canonical functions as a static enzyme cofactor to dynamic functions as a transition metal signal. At the same time, loosely bound, labile copper pools can trigger oxidative stress and damaging events that are detrimental if misregulated. The signal/stress dichotomy of copper motivates the development of new chemical tools to study its spatial and temporal distributions in native biological contexts such as living cells. Read More

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July 2018
5 Reads

Design and synthesis of a fluorescent probe based on naphthalene anhydride and its detection of copper ions.

PLoS One 2017 26;12(10):e0186994. Epub 2017 Oct 26.

School of Basic Medical Science, Xinxiang Medical University, Xinxiang, Henan Province, P. R. China.

Copper, as the third most abundant transition metal ions of human, plays an essential role in the redox reaction, signal transduction, hematopoiesis, and other physiological processes. Abnormal content of copper ions in the body will cause some diseases such as anemia, coronary heart disease, Menkes' syndrome. In this article, a new fluorescence probe L for Cu2+ was designed and synthetized by using 4-bromo-1,8 naphthalene anhydride and 2-thiophene formaldehyde as raw materials. Read More

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November 2017
15 Reads

Menkes disease: A rare disorder.

J Pak Med Assoc 2017 Oct;67(10):1609-1611

Aga Khan University Hospital, Karachi, Pakistan.

Menkes disease (MD) (OMIM: 309400) is also known as kinky hair disease, trichopoliodystrophy, and steely hair. A 7-months-old, male infant presented to our outpatient department in June 2016 with history of developmental delay and seizures. Seizures started at 3 months of age and worsened progressively to clusters of extensor spasms. Read More

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October 2017
14 Reads

Credibility and trust are required to judge the benefits and harms of medicines.

BMJ 2017 09 20;358:j4204. Epub 2017 Sep 20.

Vredenburgplein 40, 3511 WH Utrecht, the Netherlands.

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September 2017
2 Reads

Chinese non-psychiatric hospital doctors' attitudes toward management of psychological/psychiatric problems.

BMC Health Serv Res 2017 Aug 22;17(1):576. Epub 2017 Aug 22.

Mental Health Institute of the Second Xiangya Hospital, Central South University, Changsha, Hunan, 410011, People's Republic of China.

Background: Psychiatric comorbidities are common among patients treated for physical disorders. Attitudes of non-psychiatric doctors toward psychological/psychiatric problems have significant implications for care provision in the general hospital setting. Our objective was to investigate non-psychiatric doctors' attitudes in China. Read More

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August 2017
8 Reads

A novel nonsense pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype.

Mol Genet Metab Rep 2017 Dec 21;13:14-17. Epub 2017 Jul 21.

Neurology Unit and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Ospedale San Luca, piazzale Brescia 20, 20149 Milan, Italy.

We report on a family with occipital horn syndrome (OHS) diagnosed in the proband's late fifties. A novel pathogenic variant (c.4222A > T, p. Read More

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December 2017
23 Reads

How to use tests for disorders of copper metabolism.

Arch Dis Child Educ Pract Ed 2017 Dec 27;102(6):319-327. Epub 2017 Jul 27.

Department of Paediatric Neurology, Royal Preston Hospital, Preston, UK.

In paediatrics, one of our main aims in the diagnostic process is to identify any treatable conditions. The copper metabolism disorder Wilson's disease (WD) is one such condition that is caused by mutations in the gene. Delay in treatment could result in irreversible disability or even death. Read More

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December 2017
11 Reads

Management of hyperplastic gastric polyp following upper gastrointestinal bleeding in infant with Menkes' disease.

World J Gastrointest Endosc 2017 Jul;9(7):341-345

Dalia Belsha, Priya Narula, Arun Urs, Mike Thomson, Centre of Paediatric Gastroenterology, Sheffield Children's Hospital, Sheffield S10 2TH, United Kingdom.

We report a case of an infant with Menkes' disease (MD) presented at the age of five months, with coffee ground vomiting, melaena with a significant drop of haemoglobin. Urgent endoscopic assessment revealed a friable bleeding trans-pyloric multi-lobulated sessile polyp. Due to further significant upper gastrointestinal bleeding, polypectomy occurred. Read More

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July 2017
10 Reads

Nonmaleficence, Nondisclosure, and Nocebo: Response to Open Peer Commentaries.

Am J Bioeth 2017 07;17(7):W4-W5

a Oakland University William Beaumont School of Medicine.

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A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment.

Clin Genet 2017 Nov;92(5):548-553

Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Glostrup, Denmark.

Menkes disease (MD) is a lethal disorder characterized by severe neurological symptoms and connective tissue abnormalities; and results from malfunctioning of cuproenzymes, which cannot receive copper due to a defective intracellular copper transporting protein, ATP7A. Early parenteral copper-histidine supplementation may modify disease progression substantially but beneficial effects of long-term treatment have been recorded in only a few patients. Here we report on the eldest surviving MD patient (37 years) receiving early-onset and long-term copper treatment. Read More

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November 2017
3 Reads

Evidence for widespread, severe brain copper deficiency in Alzheimer's dementia.

Metallomics 2017 08;9(8):1106-1119

School of Biological Sciences, Faculty of Science, and the Maurice Wilkins Centre for Molecular Biodiscovery, University of Auckland, Private Bag 92019, Auckland 1142, New Zealand. and Centre for Advanced Discovery and Experimental Therapeutics, Central Manchester University Hospitals NHS Foundation Trust (CMFT), Manchester M13 9WL, UK and Centre for Brain Research, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand and Division of Cardiovascular Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, and Manchester Academic Health Science Centre, Manchester M13 9NT, UK.

Datasets comprising simultaneous measurements of many essential metals in Alzheimer's disease (AD) brain are sparse, and available studies are not entirely in agreement. To further elucidate this matter, we employed inductively-coupled-plasma mass spectrometry to measure post-mortem levels of 8 essential metals and selenium, in 7 brain regions from 9 cases with AD (neuropathological severity Braak IV-VI), and 13 controls who had normal ante-mortem mental function and no evidence of brain disease. Of the regions studied, three undergo severe neuronal damage in AD (hippocampus, entorhinal cortex and middle-temporal gyrus); three are less-severely affected (sensory cortex, motor cortex and cingulate gyrus); and one (cerebellum) is relatively spared. Read More

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August 2017
9 Reads

Seabirds supply nitrogen to reef-building corals on remote Pacific islets.

Sci Rep 2017 06 16;7(1):3721. Epub 2017 Jun 16.

Institut Méditerranéen de Biodiversité et d'Écologie marine et continentale (IMBE), Aix Marseille Université, CNRS, IRD, Avignon Université, Centre IRD de Nouméa, BP A5, 98848, Nouméa cedex, New Caledonia.

Seabirds concentrate nutrients from large marine areas on their nesting islands playing an important ecological role in nutrient transfer between marine and terrestrial ecosystems. Here we investigate the role of guano on corals reefs across scales by analyzing the stable nitrogen isotopic (δN) values of the scleractinian coral Pocillopora damicornis on fringing reefs around two Pacific remote islets with large seabird colonies. Marine stations closest to the seabird colonies had higher nitrate + nitrite concentrations compared to more distant stations. Read More

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June 2017
10 Reads