Menkes Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers

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These data provide valuable inferences that could be applied for predicting clinical management in asymptomatic patients in such communities. Metabolism of hydroxyvitamin D in copper-laden rat: A model of Wilson 's disease. Wilson 's disease results in excess tissue accumulation of copper and is often complicated by skeletal and mineral abnormalities.

The authors investigated vitamin D metabolism in rats fed a copper-laden diet rendering hepatic copper content comparable with that found in Wilson 's disease. Activity was also inhibited in mitochondrial from controls when copper was added to incubation media. Impaired conversion of 25 OH D to 1,25 OH 2 D occurs in copper intoxication and suggests that altered vitamin D metabolism is a potential factor in the development of bone and mineral abnormalities in Wilson 's disease.

Chesi, Giancarlo; Hegde, Ramanath N. Wilson disease WD is an autosomal recessive disorder that is caused by the toxic accumulation of copper Cu in the liver. The ATP7B gene , which is mutated in WD, encodes a multitransmembrane domain adenosine triphosphatase that traffics from the trans-Golgi network to the canalicular area of. Polishchuk, Elena V. Copper is an essential yet toxic metal and its overload causes Wilson disease , a disorder due to mutations in copper transporter ATP7B. To remove excess copper into the bile, ATP7B traffics toward canalicular area of hepatocytes.

However, the trafficking mechanisms of ATP7B remain elusive. Here, we.

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Toxicity of abundant copper is the main cause of brain and liver tissue damage in patients with Wilson 's disease WD. However, there is also evidence of a disturbed iron metabolism in this genetically determined disorder. Background: Wilson disease WD is caused by accumulation of excess copper Cu due to a mutation in the gene encoding the liver Cu transporter ATP7B, and is characterized by acute liver failure or cirrhosis and neuronal cell death. We investigated the effect of OSIP, a plant derived decapeptide that prevents Cu-induced apoptosis in yeast and human cells, on Cu-induced toxicity in various mammalian in vitro models relevant for WD and in a Cu-toxicity zebrafish larvae model applicable to WD.

Methods: The effect of OSIP was evaluated on viability of various cell lines in the presence of excess Cu, on liver morphology of a Cu-treated zebrafish larvae strain that expresses a fluorescent reporter in hepatocytes, and on oxidative stress levels in wild type AB zebrafish larvae. Aberrancies in liver morphology of Cu-treated zebrafish larvae were observed, which were further confirmed as Cu-induced hepatotoxicity by liver histology.

Injections of OSIP into Cu-treated zebrafish larvae significantly increased the amount of larvae with normal liver morphology and decreased Cu-induced production of reactive oxygen species. General significance: All the above data indicate the potential of OSIP as a drug lead for further development as a novel WD treatment.

Microstructure assessment of the thalamus in Wilson 's disease using diffusion tensor imaging. Aim: To assess diffusion changes of the thalamus in Wilson 's disease using diffusion tensor imaging DTI. Materials and methods: Fifteen patients with Wilson 's disease and an abnormal signal in the thalamus designated as group 1 and 18 patients with Wilson 's disease with a normal-appearing thalamus designated as group 2 at conventional magnetic resonance imaging MRI were recruited. Fifteen age-matched and sex-matched healthy volunteers were also enrolled as the control group designated as group 3.

Results: The FA values of the thalamus were different in the three groups group 1: 0. DTI may provide information regarding thalamus damage in patients with Wilson 's disease before abnormal signals on conventional MRI. Wilson Disease. WD is diagnosed with tests that Wilson disease. Symptoms may include: Abnormal posture of arms and legs Confusion or delirium Dementia Difficulty moving arms and legs, stiffness Difficulty walking ataxia Emotional or behavioral changes Enlargement of Inhibitory rTMS applied on somatosensory cortex in Wilson 's disease patients with hand dystonia.

Hand dystonia is a common complication of Wilson 's disease WD , responsible for handwriting difficulties and disability. Alteration of sensorimotor integration and overactivity of the somatosensory cortex have been demonstrated in dystonia.

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This study investigated the immediate after effect of an inhibitory repetitive transcranial magnetic stimulation rTMS applied over the somatosensory cortex on the writing function in WD patients with hand dystonia. We performed a pilot prospective randomized double-blind sham-controlled crossover rTMS study. A min 1-Hz rTMS session, stereotaxically guided, was applied over the left somatosensory cortex in 13 WD patients with right dystonic writer's cramp. In our experimental conditions, a single inhibitory rTMS session applied over somatosensory cortex did not improve dystonic writer cramp in WD patients.

Method Questionnaire-based interviews patients and relatives, neurological examinations, two-week prospective dream-diary, video-polysomnography, transcranial sonography, MRI. Persistently and asymptomatic raised liver enzymes as a form of presentation of Wilson 's disease at pediatric age. Phenotypic expression of the disease varies widely and can range from elevated liver enzymes, fatty liver or gallstones in asymptomatic patients, to cirrhosis and fulminant hepatic failure, or disabling neuropsychiatric disease.

We analyzed family history; age, clinical data, imaging and histology at the time of diagnosis; genetic analysis; treatment and side effects; follow-up and current status. Results: We identified five patients. Three had a family history of disease. All were asymptomatic and had maintained raised liver enzymes. No patient had clinical stigmata of chronic liver disease. One female patient had overweight. All were treated with D-penicillamine, withdrawn in two patients because of side effects.

Currently all patients remain asymptomatic, without evidence of progression of liver disease , with a median follow-up of 5 years and 3 months. Magnetic resonance tomography and computed tomography of the brain for diagnosing Wilson 's disease. The authors report on two woman patients with confirmed Wilson 's desease hepatolenticular degeneration who had neurological deficits and showed typical changes evident from laboratory data.

Both computed tomography and magnetic resonance tomography revealed degenerative changes in the basal ganglia, especially of the lenticular nucleus, MR showing these defects more clearly than CT.

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There was a noticeable symmetrical enhancement of signals in the lenticular nucleus which was particularly evident on the image basing on the T 2 spin-spin relaxation time constant values. MR could be superior to CT with regard to showing up pathological changes in the basal ganglia. The future indication of MR could be the establishment of an exact correlation between clinical signs and symptoms on the one hand, and morphological findings on the other. Over and above this, it should be explored to what extent MR can already detect degenerative changes in the brain in primarily hepatic types of the disease even without prior neurological examination.

Regional cerebral glucose consumption measured by positron emission tomography in patients with Wilson 's disease. Kuwert, T. Using positron emission tomography PET , the regional cerebral metabolic rate of glucose consumption rCMRGlc was measured in 14 patients with Wilson 's disease WD and 23 normal subjects. In WD patients, cerebellar, striatal and - to a lesser extent - cortical and thalamic rCMRGlc were significantly decreased compared with controls.

Striatal rCMRGlc was significantly reduced in those 4 patients who had recently started decoppering therapy as compared with striatal rCMRGlc measured in those 10 patients with longer duration of medication. Caudate rCMRGlc correlated significantly with various signs of extrapyramidal dysfunction.

Cerebellar, thalamic and cortical rCMRGlc correlated significantly with the severity of pyramidal signs. Splenomegaly and pancytopenia are common in Wilson 's disease WD and splenectomy is one of the conventional treatments for splenomegaly and the associated pancytopenia.

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However, splenectomy remained controversial for hypersplenism in WD as it was reported that splenectomy leaded to serious emotional and neurological deterioration in WD patients with hypersplenism. In the current study, we present our experiences in 70 WD patients with hypersplenism who had undergone splenectomy, outlining the safety and efficacy of splenectomy in WD. The clinical database of 70 WD patients with hypersplenism who had undergone splenectomy in our hospital between and were reviewed and followed-up regularly. Before splenectomy, all the patients accepted a short period of anti-copper treatment with intravenous sodium 2, 3-dimercaptopropane sulfonate DMPS.

All the patients demonstrated a marked improvement in platelet and leucocyte counts after splenectomy. No severe postoperative complication was observed. In particular, none of the 37 patients with mixed neurologic and hepatic presentations experienced neurological deterioration after splenectomy, and none of the patients with only hepatic presentations newly developed neurological symptoms. During the one year follow-up period, no patient presented hepatic failure or hepatic encephalopathy, no hepatic patient newly developed neurological presentations, and only 3 patients with mixed neurologic and hepatic presentations suffered neurological deterioration and these 3 patients had poor compliance of anti-copper treatment.

Quantative analysis of the neurological symptoms in the 37 patients using the Unified Wilson 's Disease Rating Scale UWDRS showed that the neurological symptoms were not changed in a short-term of one week after splenectomy but significantly improved in a long-term of one year after splenectomy. Additionally, compared to that before splenectomy, the esophageal gastric varices in most patients.

Copper induces hepatocyte injury due to the endoplasmic reticulum stress in cultured cells and patients with Wilson disease. Copper is an essential trace element, however, excess copper is harmful to human health. Excess copper-derived oxidants contribute to the progression of Wilson disease , and oxidative stress induces accumulation of abnormal proteins. It is known that the endoplasmic reticulum ER plays an important role in proper protein folding, and that accumulation of misfolded proteins disturbs ER homeostasis resulting in ER stress.

However, copper-induced ER homeostasis disturbance has not been fully clarified. We treated human hepatoma cell line Huh7 and immortalized-human hepatocyte cell line OUMS29 with copper and chemical chaperones, including 4-phenylbutyrate and ursodeoxycholic acid. We examined copper-induced oxidative stress, ER stress and apoptosis by immunofluorescence microscopy and immunoblot analyses.

Furthermore, we examined the effects of copper on carcinogenesis. Excess copper induced not only oxidative stress but also ER stress. Furthermore, excess copper induced DNA damage and reduced cell proliferation. Chemical chaperones reduced this copper-induced hepatotoxicity. Excess copper induced hepatotoxicity via ER stress. We also confirmed the abnormality of ultra-structure of the ER of hepatocytes in patients with Wilson disease. These findings show that ER stress plays a pivotal role in Wilson disease , and suggests that chemical chaperones may have beneficial effects in the treatment of Wilson disease.

Oe, Shinji, E-mail: ooes med. Wilson 's Disease : a challenge of diagnosis. The 5-year experience of a tertiary centre. Because molecular diagnosis is considered impractical and no patognomonic features have been described, diagnosis of Wilson 's disease WD using clinical and biochemical findings is still challenging. We analysed predictive factors for the diagnosis in 55 patients with WD diagnosed in our centre between 1st January and 1st April All patients presented predominant liver disease classified as: 1 asymptomatic, found incidentally, 2 chronic hepatitis or cirrhosis, or 3 fulminant hepatic failure.

The basic diagnostic approach includes serum ceruloplasmin and hour urinary copper.

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A 3-year-old boy had abnormal liver function, which was found in physical examination, for 5 months before admission. He had no symptoms such as anorexia, poor appetite, and jaundice, had normal growth and development, and showed no hepatosplenomegaly. There were normal muscle enzymes, blood glucose, and blood ammonia and negative liver-specific autoantibodies. The boy had negative K-F ring and normal hour urine copper 0. The ATP7B gene testing for the boy, his sister, and their parents detected two novel missense mutations in the boy and his sister, i.

LP and exon 13 c. LP , which were inherited from their father and mother, respectively. Wilson 's disease was confirmed by genetic diagnosis in the boy and his sister. The boy and his sister were given a low-copper diet. The boy was administered with penicillamine for decoppering and zinc supplement against copper uptake. His sister received zinc supplement alone because no clinical symptoms were observed. The boy showed normal liver function in the reexamination after 3 months of treatment. Wilson 's disease : 31P and 1H MR spectroscopy and clinical correlation.

However, there are no studies regarding membrane phospholipid abnormality using 31 P MRS in these patients. Forty patients of WD treated, 29; untreated,11 and 30 controls underwent routine MR image sequences and in vivo 2-D 31 P and 1 H MRS of basal ganglia using an image-selected technique on a 1. Statistical analysis was done using Student's t test. The mean durations of illness and treatment were 6. MRI images were abnormal in all the patients.

Correlations to pretreatment and posttreatment brain MRI. Brain magnetic resonance imaging MRI studies on Wilson 's disease WD show lack of correlations between neurological and neuroimaging features. Long-term follow-up reports with sequential brain MRI in patients with neurological WD comparing different modalities of treatment are scarce. Eighteen patients with neurological WD underwent pretreatment and posttreatment brain MRI scans to evaluate the range of abnormalities and the evolution along these different periods.

All patients underwent at least two MRI scans at different intervals, up to 11 years after the beginning of treatment. MRI findings were correlated with clinical picture, clinical severity, duration of neurological symptoms, and treatment with two different drugs. Patients were divided into two groups according to treatment: d-penicillamine D-P , zinc Zn , and Zn after the onset of severe intolerance to D-P. MRI scans before treatment showed, in all patients, hypersignal intensity lesions on T2- and proton-density-weighted images bilaterally and symmetrically at basal nuclei, thalamus, brain stem, cerebellum, brain cortex, and brain white matter.

The most common neurological symptoms were: dysarthria, parkinsonism, dystonia, tremor, psychiatric disturbances, dysphagia, risus sardonicus, ataxia, chorea, and athetosis. From the neurological point of view, there was no difference on the evolution between the group treated exclusively with D-P and the one treated with Zn.

Analysis of MRI scans with longer intervals after the beginning of treatment depicted a trend for neuroimaging worsening, without neurological correspondence, among patients treated with Zn. Neuroimaging pattern of evolution was more favorable for the group that received exclusively D-P. To evaluate the impact of brain MRI and single-photon emission computed tomography SPECT in early detection of central nervous system abnormalities in patients affected by Wilson 's disease WD with or without neurological involvement.

What is MENKES DISEASE? What does MENKES DISEASE mean? MENKES DISEASE meaning & explanation

Out of 25 consecutive WD patients, 13 showed hepatic involvement, ten hepatic and neurological manifestations, and twp hepatic, neurological, and psychiatric symptoms, including mainly movement disorders, major depression, and psychosis. Twenty-four healthy, age-gender matched subjects served as controls. Voxel-by-voxel analyses were performed using statistical parametric mapping to compare differences in 99m Tc-ECD brain uptake between the two groups. Moreover, hepatic involvement was detected in nine subjects; eight presented both hepatic and neurological signs, while two exhibited WD-correlated hepatic, neurological, and psychiatric alterations. These findings suggest that ECD SPECT might be useful in detecting early brain damage in WD, not only in the perspective of assessing and treating motor impairment but also in evaluating better the.

Wilson 's disease : two treatment modalities. Fusarium wilt, caused by a soilborne pathogen Fusarium oxysporum f. In order to isolate the genes differentially expressed in a resistant reaction to F. Furthermore, the gene expression profiles in the incompatible interaction between L. The result of expression profile analysis indicated that the genes encoding pathogenesis-related proteins PRs , antioxidative stress enzymes, secondary metabolism enzymes, transcription factors, signal transduction proteins as well as a large number of unknown genes were involved in early defense response of L.

In the present study, isolation of differentially expressed genes in L. Copper is an essential biometal, and several inherited diseases are directly associated with a disruption to normal copper homeostasis. Missense mutations in the C-terminal portion of ATP7A have also been shown to cause distal motor neuropathy, whereas polymorphisms in ATP7B are associated with increased risk of Alzheimer's disease.

Analysis of the wild type ATP7-GFP transgene confirmed that ATP7 is expressed at the basolateral membrane of larval midgut copper cells and that the transgene can rescue a normally early lethal ATP7 deletion allele to adulthood. Analysis of the gATP7-GFP transgenes containing pathogenic mutations showed that the function of ATP7 was affected, to varying degrees, by all six of the mutations investigated in this study. Of particular interest, the ATP7B KR Alzheimer's disease susceptibility allele was found, for the first time, to be a loss of function allele.

None of the studied gene polymorphisms had effect on the mode of WND manifestation neuropsychiatric vs. Is blinking of the eyes affected in extrapyramidal disorders? An interesting observation in a patient with Wilson disease. Blinking of eye is a routine human activity which seldom attracts any attention of clinicians in health and disease.

There is experimental evidence that blink rate is affected in extrapyramidal disorders affecting the balance of these neurotransmitters. However, no observations regarding blink rate in Wilson disease WD have been reported previously. We report a patient of WD with an increased spontaneous blink rate.

A year-old lady presented complaining of tremulousness of both upper limbs and head for 2 years, dysphagia and difficulty in speaking for 1. Serum ceruloplasmin level was low 0. The patient was started on therapy with D-penicillamine, zinc sulphate, levodopa-carbidopa and trihexiphenidyl. Background:Clinical presentations of Wilson 's disease WD in childhood ranges from asymptomatic liver disease to cirrhosis or acute liver failure, whereas neurological and psychiatric symptoms are rare. The basic diagnostic approach includes serum ceruloplasmin and hour urinary copper excretion.

The Wilson films--Huntington's chorea. Wilson 's Queen Square Case 9 with Huntington's chorea shows a year-old man with mild to moderate generalized chorea, impaired fixation, and probable cognitive decline in keeping with a diagnosis of Huntington's disease HD. An age of onset in the late sixties and a negative family history suggest a relatively small expanded trinucleotide repeat in the HTT gene in the patient and reduced penetrance of an even shorter repeat allele in one of his parents.

A highly sensitive and specific gene test has been offered worldwide for diagnostic testing of HD for almost two decades. This test, obviously unavailable at Wilson 's times, became the historic frontrunner for guidelines of symptomatic, presymptomatic, and prenatal testing for an adult-onset neurodegenerative disorder. Regarding treatment of HD, however, we are still awaiting the successful translation of research results into the development of effective cause-directed, neuropreventive and neurorestaurative therapies.

Four-year follow-up of a Wilson disease pedigree complicated with epilepsy and hypopituitarism: Case report with a literature review. Wilson 's disease WD is an autosomal recessive inherited disorder of copper metabolism with excellent prognosis if treated timely. However, WD is usually prone to neglect and misdiagnosis at an early stage.

We reported a rare WD pedigree, and the clinical features, laboratory tests, and gene mutations were analyzed in detail. The patient was a year-old and cm-tall girl who presented with limb weakness, combined with multi-organ disorders including blind eye, epilepsy, and hypopituitarism. Clinical tests showed a low serum ceruloplasmin level, high urinary copper excretion and Kayser-Fleischer K-F rings. She carried a compound heterozygous mutations in ATP7B gene c.

Her younger brother, as an asymptomatic patient, manifested with elevation of transaminases but without neurological and hepatic symptoms. They were diagnosed as WD finally. They were treated with sodium dimercaptosulphonate, supplemented with zinc gluconate, vitamin B6, vitamin C, as well as restriction of dietary copper.

The urinary copper excretion and serum transaminase level decreased gradually. The abnormal signals in brainstem and basal ganglia were also remarkably decreased after 4-year of de-copper treatment. As to the patients with complicated clinical manifestations, the extrapyramidal symptom and basal ganglia signals should be concerned. The serum ceruloplasmin detection and ATP7B gene mutation screening are necessary. Esclusa Wilson. Wilson 's disease : Rapid diagnosis and differentiation of heterozygous and homozygous carriers with 64CuCl2. In the modified radiocopper test, a constant amount of copper and not of radioactivity is injected, a difference being made between males and females.

The rate of incorporation of 64 Cu into caeruloplasmin and urinary excretion of nuclides is measured. It is a method with low radiation exposure, providing a definite diagnosis after 30 hours. This was demonstrated in 27 homozygous patients, 30 parents and 33 siblings, and 25 controls: a clear-cut diagnosis was made in all untreated homozygous patients. In five of eight patients treated with D-penicillamine for several years, the values were in the range of heterozygotes, so that the test makes treatment control possible.

The recognition of heterozygous carriers is interfered with by contraceptives and infections. The results in control subjects were all widely outside the range for patients with Wilson 's disease. Perceptual analysis was done by four speech therapists. The following parameters were assessed: voice quality, loudness, pitch, vocal attack, vocal stability and resonance, as well as the degree of deviated parameters, measured.

Mowat- Wilson syndrome. Mowat- Wilson syndrome MWS is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin , moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease HSCR , genitourinary anomalies in particular hypospadias in males , congenital heart defects, agenesis of the corpus callosum and eye anomalies.

The prevalence of MWS is currently unknown, but patients have been reported so far. Studies of genotype-phenotype analysis show that facial gestalt and delayed psychomotor development are constant clinical features, while the frequent and severe congenital malformations are variable. In a small number of patients, unusual mutations can lead to an atypical phenotype.

The facial phenotype is particularly important for the initial clinical diagnosis and provides the hallmark warranting ZEB2 mutational analysis, even in the absence of HSCR. The majority of MWS cases reported so far were sporadic, therefore the recurrence risk is low. Nevertheless, rare cases of sibling recurrence have been observed. Congenital malformations and seizures require precocious clinical. Full Text Available Abstract Mowat- Wilson syndrome MWS is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin, moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease HSCR, genitourinary anomalies in particular hypospadias in males, congenital heart defects, agenesis of the corpus callosum and eye anomalies.

Congenital malformations and seizures require. Anesthesia in Mowat- Wilson syndrome: information on 11 Italian patients. Mowat- Wilson syndrome is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and characterized by typical clinical features. The congenital malformations typical of this syndrome call for early diagnostic and surgical procedures requiring general anesthesia, but few information about the anesthesiology management of such patients is available.

We enrolled 11 families of patients with Mowat- Wilson syndrome who had undergone surgical or diagnostic procedures requiri Violent dream content and its acting out during rapid eye movement sleep are considered distinctive for rapid eye movement sleep behaviour disorder RBD. Retrospective questionnaires on different dimensions of dreaming and a prospective two-week home dream diary with self-rating of emotions and blinded, categorical rating of content by an external judge.

WD patients showed a significantly lower dream word count and very few other differences in dream characteristics compared to age- and sex-matched healthy controls. Compared to WD patients without RBD, patients with WD and RBD reported significantly higher nightmare frequencies and more dreams with violent or aggressive content retrospectively; their prospectively collected dream reports contained significantly more negative emotions and aggression. The reduction in dream length might reflect specific cognitive deficits in WD. The lack of differences regarding dream content might be explained by the established successful WD treatment.

RBD in WD had a strong impact on dreaming. Discontinuation of penicillamine in the absence of alternative orphan drugs trientine-zinc : a case of decompensated liver cirrhosis in Wilson 's disease. To report a case of early-decompensated liver cirrhosis secondary to discontinuation of penicillamine therapy in a patient with Wilson 's disease. A year-old Chinese female patient was diagnosed with Wilson 's disease , for which penicillamine mg p. However, the patient developed intolerance and penicillamine was discontinued without alternative treatment. Five months later, she developed decompensated liver cirrhosis with hepatic encephalopathy.

Eventually, the patient died because of the complications of sepsis and decompensated liver failure. Chelating agent is the mainstay of treatment in Wilson 's disease , which is an inherited disorder of hepatic copper metabolism. Therapy must be instituted and continued for life once diagnosis is confirmed. Interruption of therapy can be fatal or cause irreversible relapse. Penicillamine given orally is the chelating agent of first choice.

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In most case reports, cessation of penicillamine without replacement treatment causes rapid progression to fulminant hepatitis, which is fatal unless liver transplantation is performed. In this, we highlight a case of discontinuation of penicillamine in a patient with Wilson 's disease without substitution with alternative regimen. This was caused by unavailability of the alternative agents such as trientine in our country.

Consequently, the patient progressed to decompensated liver cirrhosis with encephalopathy and eventually passed-away within 5 months. One recent study supports a combination of trientine and zinc in treating patient with decompensated liver cirrhosis. This combination is capable of reversing liver failure and prevents the need of liver transplantation.

Both trientine and zinc are not registered in Malaysia. Therefore, liver transplantation was probably the only treatment option for this patient. Hence, non-availability of orphan drugs. At present, the copper chelator d-penicillamine DPA is the first-line therapy of Wilson 's disease WD , which is characterized by an excessive copper overload. Lifelong DPA treatments aim to reduce the amount of detrimental excess copper retention in the liver and other organs.

Although DPA shows beneficial effect in many patients, it may cause severe adverse effects. Despite several years of copper chelation therapy, discontinuation of DPA therapy can be linked to a rapidly progressing liver failure, indicating a high residual liver copper load. Importantly, however, copper distribution was highly inhomogeneous with lowest concentrations in direct proximity to blood vessels, as observed using novel zonal analysis. A human liver needle biopsy of a DPA treated WD patient substantiated the finding of an inhomogeneous copper deposition upon chelation therapy.

In contrast, comparatively homogenous distributions of zinc and iron were observed. These findings suggest that ECD SPECT might be useful in detecting early brain damage in WD, not only in the perspective of assessing and treating motor impairment but also in evaluating. Neuroimaging findings in Mowat- Wilson syndrome.

PURPOSE: Mowat- Wilson syndrome MWS is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease , genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency o Copper is a nutritional metal required for brain development and function. Wilson 's disease WD , or hepatolenticular degeneration, is an inherited human copper metabolism disorder caused by a mutation of the ATP7B gene. Many WD patients present with variable neurological and psychiatric symptoms, which may be related to neurodegeneration secondary to copper metabolism imbalance.

Sinha, Sanjib; Taly, A. The mean values of phosphomonoesters PME p disease severity. A Wilson system is a collection of finite linear combinations of time frequency shifts of a square integrable function. In this paper we give an account of the construction of bimodular Wilson bases in higher dimensions from Gabor frames of redundancy two Mowat— Wilson syndrome — case study. During hospitalisation, congenital urinary anomalies bilateral vesicoureteral reflux and heart defects were diagnosed.

A John Wilson. Articles written in Resonance — Journal of Science Education. Volume 11 Issue 7 July pp Classroom. On March 4, an international symposium and tribute was held at Fermilab in honour of the Laboratory's founding director Robert Rathbun Wilson on the occasion of his 80th birthday.

Gene therapy for ocular diseases. The eye is an easily accessible, highly compartmentalised and immune-privileged organ that offers unique advantages as a gene therapy target. Significant advancements have been made in understanding the genetic pathogenesis of ocular diseases , and gene replacement and gene silencing have been implicated as potentially efficacious therapies. Recent improvements have been made in the safety and specificity of vector-based ocular gene transfer methods.

Proof-of-concept for vector-based gene therapies has also been established in several experimental models of human ocular diseases. After nearly two decades of ocular gene therapy research, preliminary successes are now being reported in phase 1 clinical trials for the treatment of Leber congenital amaurosis. This review describes current developments and future prospects for ocular gene therapy. Novel methods are being developed to enhance the performance and regulation of recombinant adeno-associated virus- and lentivirus-mediated ocular gene transfer.

Gene therapy prospects have advanced for a variety of retinal disorders, including retinitis pigmentosa, retinoschisis, Stargardt disease and age-related macular degeneration. Advances have also been made using experimental models for non-retinal diseases , such as uveitis and glaucoma. These methodological advancements are critical for the implementation of additional gene -based therapies for human ocular diseases in the near future. Gene Therapy for Parkinson's Disease. Full Text Available Current pharmacological and surgical treatments for Parkinson's disease offer symptomatic improvements to those suffering from this incurable degenerative neurological disorder, but none of these has convincingly shown effects on disease progression.

Novel approaches based on gene therapy have several potential advantages over conventional treatment modalities. These could be used to provide more consistent dopamine supplementation, potentially providing superior symptomatic relief with fewer side effects. More radically, gene therapy could be used to correct the imbalances in basal ganglia circuitry associated with the symptoms of Parkinson's disease , or to preserve or restore dopaminergic neurons lost during the disease process itself.

The latter neuroprotective approach is the most exciting, as it could theoretically be disease modifying rather than simply symptom alleviating. Gene therapy agents using these approaches are currently making the transition from the laboratory to the bedside. This paper summarises the theoretical approaches to gene therapy for Parkinson's disease and the findings of clinical trials in this rapidly changing field.

Acute putaminal necrosis and white matter demyelination in a child with subnormal copper metabolism in Wilson disease : MR imaging and spectroscopic findings. Wilson disease WD that manifests solely with acute and severe neurological damage in the absence of hepatic disease and Kayser-Fleischer ring of the cornea is rare and difficult to diagnose at the acute setting.

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However, the major problem with using it as an indicator of iron overload is that it can be elevated in a variety of other medical conditions including infection, inflammation, fever, liver disease, kidney disease, and cancer. Also, total iron binding capacity may be low, but can also be normal. If the person is showing the symptoms, they may need to be tested more than once throughout their lives as a precaution, most commonly in women after menopause. First degree relatives of those with primary haemochromatosis should be screened to determine if they are a carrier or if they could develop the disease.

This can allow preventive measures to be taken. Screening the general population is not recommended. Liver biopsy is the removal of small sample in order to be studied and can determine the cause of inflammation or cirrhosis. In someone with negative HFE gene testing, elevated iron status for no other obvious reason, and family history of liver disease, additional evaluation of liver iron concentration is indicated. In this case, diagnosis of haemochromatosis is based on biochemical analysis and histologic examination of a liver biopsy. Assessment of the hepatic iron index HII is considered the "gold standard" for diagnosis of haemochromatosis.

Magnetic resonance imaging MRI is used as a noninvasive way to accurately estimate iron deposition levels in the liver as well as heart, joints, and pituitary gland. When first diagnosed, the phlebotomies may be performed every week or fortnight, until iron levels can be brought to within normal range. Once the serum ferritin and transferrin saturation are within the normal range, treatments may be scheduled every two to three months depending upon the rate of reabsorption of iron.

A phlebotomy session typically draws between and mL of blood. A diet low in iron is generally recommended, but has little effect compared to venesection. The human diet contains iron in two forms: heme iron and non-heme iron. Heme iron is the most easily absorbed form of iron. People with iron overload may be advised to avoid food that are high in heme iron. Highest in heme iron is red meat such as beef, venison , lamb, buffalo, and fish such as bluefin tuna.

A strict low-iron diet is usually not necessary. Non-heme iron is not as easily absorbed in the human system and is found in plant-based foods like grains, beans, vegetables, fruits, nuts, and seeds. Medication: For those unable to tolerate routine blood draws, there are chelating agents available for use.

Typical treatment for chronic iron overload requires subcutaneous injection over a period of 8—12 hours daily. In general, provided there has been no liver damage, patients should expect a normal life expectancy if adequately treated by venesection. It is most common in certain European populations such as the Irish and Norwegians and occurs in 0. Diet and the environment are thought to have had large influence on the mutation of genes related to iron overload. Starting during the Mesolithic era , communities of people lived in an environment that was fairly sunny, warm and had the dry climates of the Middle East.

Most humans who lived at that time were foragers and their diets consisted largely of game, fish and wild plants. Archaeologists studying dental plaque have found evidence of tubers , nuts, plantains , grasses and other foods rich in iron. Over many generations, the human body became well-adapted to a high level of iron content in the diet. In the Neolithic era , significant changes are thought to have occurred in both the environment and diet.

Some communities of foragers migrated north, leading to changes in lifestyle and environment, with a decrease in temperatures and a change in the landscape which the foragers then needed to adapt to. As people began to develop and advance their tools, they learned new ways of producing food, and farming also slowly developed.

These changes would have led to serious stress on the body and a decrease in the consumption of iron-rich foods. This transition is a key factor in the mutation of genes, especially those that regulated dietary iron absorption. In the chilly and damp environments of Northern Europe, supplementary iron from food was necessary to keep temperatures regulated, however, without sufficient iron intake the human body would have started to store iron at higher rates than normal.

In theory, the pressures caused by migrating north would have selected for a gene mutation that promoted greater absorption and storage of iron. Studies and surveys conducted to determine the frequencies of hemochromatosis help explain how the mutation migrated around the globe. In theory, the disease initially evolved from travelers migrating from the north. Surveys show a particular distribution pattern with large clusters and frequencies of gene mutations along the western European coastline. The Vikings originally came from Norway, Sweden and Denmark. Viking ships made their way along the coastline of Europe in search of trade, riches, and land.

Genetic studies suggest that the extremely high frequency patterns in some European countries are the result of migrations of Vikings and later Normans , indicating a genetic link between hereditary hemochromatosis and Viking ancestry. In , Armand Trousseau a French internist was one of the first to describe many of the symptoms of a diabetic patient with cirrhosis of the liver and bronzed skin color. The term hemochromatosis was first used by German pathologist Friedrich Daniel von Recklinghausen in when he described an accumulation of iron in body tissues.

In J. Sheldon, a British physician, described the link to iron metabolism for the first time as well as demonstrating its hereditary nature.

Menkes Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers Menkes Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers
Menkes Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers Menkes Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers
Menkes Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers Menkes Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers
Menkes Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers Menkes Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers
Menkes Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers Menkes Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers
Menkes Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers Menkes Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers
Menkes Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers Menkes Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers
Menkes Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers Menkes Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers

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