Neurology Clinic

São Paulo, Brazil

Neurology Clinic

São Paulo, Brazil
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Cieslak M.,Neurology Clinic | Wojtczak A.,Nicolaus Copernicus University | Komoszynski M.,Nicolaus Copernicus University
Pharmacological Reports | Year: 2017

Adenine nucleotides and adenosine are signaling molecules that activate purinergic receptors P1 and P2. Activation of A1 adenosine receptors has an anticonvulsant action, whereas activation of A2A receptors might initiate seizures. Therefore, a significant limitation to the use of A1 receptor agonists as drugs in the CNS might be their peripheral side effects. The anti-epileptic activity of adenosine is related to its increased concentration outside the cell. This increase might result from the inhibition of the equilibrative nucleoside transporters (ENTs). Moreover, the implantation of implants or stem cells into the brain might cause slow and persistent increases in adenosine concentrations in the extracellular spaces of the brain. The role of adenosine in seizure inhibition has been confirmed by results demonstrating that in patients with epilepsy, the adenosine kinase (ADK) present in astrocytes is the only purine-metabolizing enzyme that exhibits increased expression. Increased ADK activity causes intensified phosphorylation of adenosine to 5’-AMP, which therefore lowers the adenosine level in the extracellular spaces. These changes might initiate astrogliosis and epileptogenesis, which are the manifestations of epilepsy. Seizures might induce inflammatory processes and vice versa. Activation of P2X7 receptors causes intensified release of pro-inflammatory cytokines (IL-1β and TNF-α) and activates metabolic pathways that induce inflammatory processes in the CNS. Therefore, antagonists of P2X7 and the interleukin 1β receptor might be efficient drugs for recurring seizures and prolonged status epilepticus. Inhibitors of ADK would simultaneously inhibit the seizures, prevent the astrogliosis and epileptogenesis processes and prevent the formation of new epileptogenic foci. Therefore, these drugs might become beneficial seizure-suppressing drugs. © 2016


Stanek G.,Medical University of Vienna | Fingerle V.,National Reference Center for Borrelia | Hunfeld K.-P.,Goethe University Frankfurt | Jaulhac B.,University of Strasbourg | And 7 more authors.
Clinical Microbiology and Infection | Year: 2011

Lyme borreliosis, caused by spirochaetes of the Borrelia burgdorferi genospecies complex, is the most commonly reported tick-borne infection in Europe and North America. The non-specific nature of many of its clinical manifestations presents a diagnostic challenge and concise case definitions are essential for its satisfactory management. Lyme borreliosis is very similar in Europe and North America but the greater variety of genospecies in Europe leads to some important differences in clinical presentation. These new case definitions for European Lyme borreliosis emphasise recognition of clinical manifestations supported by relevant laboratory criteria and may be used in a clinical setting and also for epidemiological investigations. © 2010 The Authors. Journal Compilation © 2010 European Society of Clinical Microbiology and Infectious Diseases.


Dupont S.,Epileptology Unit | Biraben A.,Rennes University Hospital Center | Lavernhe G.,Neurology Clinic | Marquet T.,Eisai SAS | Allaf B.,Eisai SAS
Epileptic Disorders | Year: 2013

Aim: Tocharacterise patients treated with zonisamide in everyday practice and describe the effectiveness and tolerability of treatment. Methods: This was an observational, longitudinal, naturalistic study, conducted by neurologists in France. Patients who had started zonisamide treatment at least three months prior to inclusion were eligible. Data were collected at routine consultations at inclusion (Visit 1) and three to six months later (Visit 2). At Visit 1, investigators documented epilepsy-related variables based on patient records before initiation of zonisamide and at inclusion. At Visit 2, the investigators re-evaluated seizure activity and rated effectiveness. Adverse events were also documented. Results: A total of 428 patients were included in the study based on evaluation by 132 neurologists. Zonisamide was initiated at a daily dose of 50 mg and 25 mg in 61% and 31.8% of patients, respectively. The median maintenance dose was 300 mg/day. Prior to initiation of zonisamide, the mean seizure frequency was 16.0 seizures/month. This was reduced to 8.7 seizures/month at Visit 1 and to 7.1 seizures/month at Visit 2. The response rate and proportion of seizure-free patients was 61.9 and 31.1% at Visit 1 and 65.9 and 25.6% at Visit 2, respectively. The frequency of seizures at Visit 2 decreased significantly (p<0.05) for all seizure type subgroups, except for simple partial seizures. Responder rates were >60% for all analysed subgroups. The proportion of seizure-free patients was significantly higher in patients receiving bitherapy, compared to the others (p=0.007). The most frequently reported adverse event was somnolence (5.1%); three serious adverse events were reported. Conclusion: In everyday practice, zonisamide is principally used in association with other antiepileptic drugs for the treatment of focal epilepsy in adults. It is effective in improving seizure control and quality of life, and is generally well-tolerated.


New Partnership with Behavioral Remote Patient Monitoring (RPM) Company QOLPOM for a New Service to Benefit Patients SANTA MONICA, CA / ACCESSWIRE / November 10, 2016 / Parallax Health Sciences, Inc. ("Parallax" or the "Company") (PRLX), is pleased to announce that GRANDE RONDE HOSPITAL, INC. a state and nationally recognized, award winning, not-for-profit health system that includes a 25-bed Critical Access Hospital and 10 outpatient clinics located in Union County, Oregon, has selected QOLPOM, INC. as its provider of Remote Patient Monitoring Services. Grande Ronde serves a base population of more than 25,000 residents and has provided healthcare services for the greater eastern Oregon region since 1907. "This newest expansion of GRH TeleHealth services through our Patient-Centered Primary Care Program offers increased diversity and opportunity for providing in-home care to some of our most vulnerable patients. Our partnership with QOLPOM provides us with a great opportunity to offer even more healing and comfort for those patients who are being treated at home. They will continue to receive quality care from friendly faces with even greater support through a thriving specialty-consult technology network," said Doug Romer, GRH Executive Director of Patient Care Services. QOLPOM, a subsidiary of Parallax Health Sciences, Inc. of Santa Monica, CA, provides technology for comprehensive, next generation telehealth delivery and services. The QOLPOM Hub, a leader in secure Remote Patient Monitoring software, provides remote monitoring of patients requiring in-home and timely monitoring for a variety of medical conditions. The Hub can also provide a medication-dispensing device that will help assure patient compliance with prescription drug regimens. Synergistic with this QOLPOM Hub feature, Parallax and QOLPOM can provide prescription medications through its pharmacy division, Roxsan Pharmacy, based in Beverly Hills, CA (www.roxsan.com). Providing convenience for patients and cost reductions for the hospital are the measurable outcomes targeted by the program. The QOLPOM brand is an acronym for Quality of Life–Peace of Mind. QOLPOM services are directed at sustaining and improving the quality of life for individuals experiencing either transitory or long-term medical conditions. Knowing that help is always near gives peace of mind to patients and their loved ones, providing the confidence in care is professionally and continuously monitored. "Hospitals are breaking-out of their traditional four walls and providing care where and when patients need it," said Rick Pollack, President and CEO of the AHA. "These hospitals exemplify this transformation by harnessing technology, engaging patients and offering services remotely. Removing policy and other barriers to telehealth will allow even faster adoption of these amazing technologies." QOLPOM President Nathaniel Bradley concurs with Pollack's assessment, adding that QOLPOM is eager to partner with telehealth leader Grande Ronde Hospital to develop and refine the delivery of remote medical monitoring services to the community of Union County. "This partnership is indicative of Grande Ronde Hospital's continued commitment to innovate and build on new, dynamic patient interactions. QOLPOM offers the most complete, cost effective, evidence based and flexible remote health solutions in the market place today. Applying technology to assist individuals in their day-to-day functions is not a new concept. The key is to tailor services to meet the unique needs of individual clients and their families, that is, to wade through the confusing maize of services and find or create what works best for each individual and those who are caring for their loved one," says Bradley. QOLPOM's services are predicated on delivering the most state of the art, up to date tele- monitoring programs, devices and applications. The key is to customize services to meet the unique needs of individual clients and their families, that is, to wade through the confusing maize of services and find or create what works best. We are building software, technology and support infrastructure for the coming home healthcare revolution. We have access to the highest quality products and customizable monitoring operations that deliver quality of life for our users and peace of mind for those who care for and about them. QOLPOM operates out of Tucson, Arizona and its monitoring center is located in Tempe, Arizona. Please visit www.qolpom.com for more information. Parallax Health Sciences, Inc., with offices in Santa Monica, CA, is a fully reporting Nevada corporation (PRLX). Parallax is focused on personalized patient healthcare with its Pharmacy and Infertility business through its Beverly Hills, California based RoxSan Pharmacy and RoxSan Fertility Group operations and Parallax Diagnostics. Parallax Diagnostics has rights to a line of point of care diagnostic tests on a single proprietary platform, and plans to develop a novel, handheld diagnostic testing system that is simple, rapid and elegant, offering the potential to transform the diagnostic landscape by transitioning critical tests from the centralized lab directly to the hands of the physician, care givers or home use. www.parallaxhealthsciences.com and www.roxsan.com and www.roxsanfertility.com Grande Ronde Hospital, INC. is a state and nationally recognized and award winning not-for-profit health system that includes a 25-bed Critical Access Hospital and 10 outpatient clinics. We are located in Union County, Oregon, serving our base population of more than 25,000 residents, as well as providing services for the greater eastern Oregon region. Since 1907, Grande Ronde Hospital has led this region in efforts to stabilize and secure rural health care services for the communities we serve, while also working to improve the quality of life of all our residents. Today we employ more than 700 people, all dedicated to providing quality health care services to our patients. We offer a broad range of diagnostic, surgical and therapeutic outpatient services, a Level IV Trauma Emergency Services Department, a Family Birthing Center; Physical, Occupational and Speech Rehabilitation Therapy Services, and Home Care Services providing both home health and hospice care needs. We also operate 10 primary and specialty care clinics: the Cardiology Clinic, the Elgin Clinic, the Hematology & Oncology Clinic, the Neurology Clinic, the Regional Medical Clinic, the Sleep Clinic, the Specialty Clinic (General Surgery, Orthopedics & Sports Medicine, Otolaryngology (ENT), Urology, and Wound Ostomy Care), the Walk-In Clinic, the Union Clinic, and the Women's & Children's Clinic (Gynecology, Obstetrics and Pediatrics). For more information, visit www.grh.org. New Partnership with Behavioral Remote Patient Monitoring (RPM) Company QOLPOM for a New Service to Benefit Patients SANTA MONICA, CA / ACCESSWIRE / November 10, 2016 / Parallax Health Sciences, Inc. ("Parallax" or the "Company") (PRLX), is pleased to announce that GRANDE RONDE HOSPITAL, INC. a state and nationally recognized, award winning, not-for-profit health system that includes a 25-bed Critical Access Hospital and 10 outpatient clinics located in Union County, Oregon, has selected QOLPOM, INC. as its provider of Remote Patient Monitoring Services. Grande Ronde serves a base population of more than 25,000 residents and has provided healthcare services for the greater eastern Oregon region since 1907. "This newest expansion of GRH TeleHealth services through our Patient-Centered Primary Care Program offers increased diversity and opportunity for providing in-home care to some of our most vulnerable patients. Our partnership with QOLPOM provides us with a great opportunity to offer even more healing and comfort for those patients who are being treated at home. They will continue to receive quality care from friendly faces with even greater support through a thriving specialty-consult technology network," said Doug Romer, GRH Executive Director of Patient Care Services. QOLPOM, a subsidiary of Parallax Health Sciences, Inc. of Santa Monica, CA, provides technology for comprehensive, next generation telehealth delivery and services. The QOLPOM Hub, a leader in secure Remote Patient Monitoring software, provides remote monitoring of patients requiring in-home and timely monitoring for a variety of medical conditions. The Hub can also provide a medication-dispensing device that will help assure patient compliance with prescription drug regimens. Synergistic with this QOLPOM Hub feature, Parallax and QOLPOM can provide prescription medications through its pharmacy division, Roxsan Pharmacy, based in Beverly Hills, CA (www.roxsan.com). Providing convenience for patients and cost reductions for the hospital are the measurable outcomes targeted by the program. The QOLPOM brand is an acronym for Quality of Life–Peace of Mind. QOLPOM services are directed at sustaining and improving the quality of life for individuals experiencing either transitory or long-term medical conditions. Knowing that help is always near gives peace of mind to patients and their loved ones, providing the confidence in care is professionally and continuously monitored. "Hospitals are breaking-out of their traditional four walls and providing care where and when patients need it," said Rick Pollack, President and CEO of the AHA. "These hospitals exemplify this transformation by harnessing technology, engaging patients and offering services remotely. Removing policy and other barriers to telehealth will allow even faster adoption of these amazing technologies." QOLPOM President Nathaniel Bradley concurs with Pollack's assessment, adding that QOLPOM is eager to partner with telehealth leader Grande Ronde Hospital to develop and refine the delivery of remote medical monitoring services to the community of Union County. "This partnership is indicative of Grande Ronde Hospital's continued commitment to innovate and build on new, dynamic patient interactions. QOLPOM offers the most complete, cost effective, evidence based and flexible remote health solutions in the market place today. Applying technology to assist individuals in their day-to-day functions is not a new concept. The key is to tailor services to meet the unique needs of individual clients and their families, that is, to wade through the confusing maize of services and find or create what works best for each individual and those who are caring for their loved one," says Bradley. QOLPOM's services are predicated on delivering the most state of the art, up to date tele- monitoring programs, devices and applications. The key is to customize services to meet the unique needs of individual clients and their families, that is, to wade through the confusing maize of services and find or create what works best. We are building software, technology and support infrastructure for the coming home healthcare revolution. We have access to the highest quality products and customizable monitoring operations that deliver quality of life for our users and peace of mind for those who care for and about them. QOLPOM operates out of Tucson, Arizona and its monitoring center is located in Tempe, Arizona. Please visit www.qolpom.com for more information. Parallax Health Sciences, Inc., with offices in Santa Monica, CA, is a fully reporting Nevada corporation (PRLX). Parallax is focused on personalized patient healthcare with its Pharmacy and Infertility business through its Beverly Hills, California based RoxSan Pharmacy and RoxSan Fertility Group operations and Parallax Diagnostics. Parallax Diagnostics has rights to a line of point of care diagnostic tests on a single proprietary platform, and plans to develop a novel, handheld diagnostic testing system that is simple, rapid and elegant, offering the potential to transform the diagnostic landscape by transitioning critical tests from the centralized lab directly to the hands of the physician, care givers or home use. www.parallaxhealthsciences.com and www.roxsan.com and www.roxsanfertility.com Grande Ronde Hospital, INC. is a state and nationally recognized and award winning not-for-profit health system that includes a 25-bed Critical Access Hospital and 10 outpatient clinics. We are located in Union County, Oregon, serving our base population of more than 25,000 residents, as well as providing services for the greater eastern Oregon region. Since 1907, Grande Ronde Hospital has led this region in efforts to stabilize and secure rural health care services for the communities we serve, while also working to improve the quality of life of all our residents. Today we employ more than 700 people, all dedicated to providing quality health care services to our patients. We offer a broad range of diagnostic, surgical and therapeutic outpatient services, a Level IV Trauma Emergency Services Department, a Family Birthing Center; Physical, Occupational and Speech Rehabilitation Therapy Services, and Home Care Services providing both home health and hospice care needs. We also operate 10 primary and specialty care clinics: the Cardiology Clinic, the Elgin Clinic, the Hematology & Oncology Clinic, the Neurology Clinic, the Regional Medical Clinic, the Sleep Clinic, the Specialty Clinic (General Surgery, Orthopedics & Sports Medicine, Otolaryngology (ENT), Urology, and Wound Ostomy Care), the Walk-In Clinic, the Union Clinic, and the Women's & Children's Clinic (Gynecology, Obstetrics and Pediatrics). For more information, visit www.grh.org.


News Article | April 19, 2016
Site: www.biosciencetechnology.com

As increased funding and research try to hit back at the long-term consequences of concussions, new technology presented at the American Academy of Neurology’s annual meeting this week may provide a way to answer at least some questions. A new study from Robert Hamilton, Ph.D., co-founder of the L.A.-based software company Neural Analytics, points to using a transcranial Doppler device (TCD) to map blood flow in the brains of athletes as a way to more accurately and more immediately recognize and diagnose concussions. Traditionally, concussions are diagnosed a good time after the impact event by MRI—and sometimes only in individuals with worsening or the most severe symptoms. “There is growing evidence that concussions can change the blood flow in the brain,” said Hamilton. “While such changes may be detected with MRI, we believe there may be a less expensive and portable way to measure these changes with a TCD device.” TCD uses ultrasound to map blood flow activity in the brain; but, the measurements it takes are usually not enough to diagnose a concussion by itself. The traditional technology only measures variables like the speed and pulse of blood flowing through arteries. So for this study, researchers developed an advanced version of the TCD ultrasound to get a more complete picture of just how blood moves through the middle cerebral artery—one of the three major arteries in the brain. Hamilton and his team tested the advanced TCD ultrasound technique on 235 high school athletes—66 of which participated in contact sports and had been recently diagnosed with a concussion; and 169 from both contact and non-contact sports that had not been diagnosed with a concussion recently. Each of the concussed athletes had their brain blood flow measured with the advanced ultrasound headset within an average of six days after the injury. According to the press release, the study found that the advanced version of TCD ultrasound was able to differentiate between healthy and concussed athletes 83 percent of the time. Meanwhile, traditional TCD ultrasound techniques only differentiated between the two groups 53 to 60 percent of the time, depending on the specific measurement. While more research is needed, initial results point to the possibility of one day having a headset tool that could be used on the sidelines to help determine more quickly if an athlete needs further testing. “The potential of having an accessible technology that detects a physiological change following brain trauma is very exciting,” said Jeffrey Kutcher, MD, with The Sports Neurology Clinic in Brighton, Michigan. “However, what these detected blood flow changes mean to a patient’s clinical care is still unclear.” According to the study authors, the next step will be testing the advanced TCD technique at the sideline at the time of injury to determine its ultimate utility. Establish your company as a technology leader! For more than 50 years, the R&D 100 Awards have showcased new products of technological significance. You can join this exclusive community! Learn more.


News Article | April 19, 2016
Site: www.rdmag.com

The Centers for Disease Control and Prevention estimates that between 1.6 and 3.8 million concussions occur each year. Athletes are particularly susceptible to the head injury, with between 5 and 10 percent experiencing a concussion in any given sports season, according to the Sports Concussion Institute. Football players face a particularly high risk, with an athlete having a 75 percent chance of receiving a concussion. At the 68th annual meeting of the American Academy of Neurology, which is being held in Vancouver, Canada, researchers presented the findings of a new study, in which they utilized an ultrasound headset to recognize concussions, and differentiate a concussed brain from a healthy brain. Called a transcranial Doppler device (TCD), the device measures blood flow activity in the brain. Particularly, it’s looking at how blood moves through the middle cerebral artery. In their study, the researchers used a pool of 66 high school athletes who had recently been diagnosed with a concussion, and a control group of 169 athletes. Each participant’s brain blood flow was measured an average six days after the injury. TCD was capable of differentiating between healthy and concussed athletes 83 percent of the time. Traditional TCD techniques only boasted accuracies between 53 and 60 percent. “While more research is needed, the hope is such a tool could one day be used on the sidelines to help determine more quickly whether an athlete needs further testing,” said study author Robert Hamilton in a statement. Hamilton is the co-founder of Neural Analytics, formed by members of the University of California, Los Angeles’ Department of Neurology. The pool of study participants played a variety of sports, from football, soccer and basketball to water polo and lacrosse. “The potential of having an accessible technology that detects a physiological change following brain trauma is very exciting,” said Dr. Jeffrey Kutcher, of The Sports Neurology Clinic, in a statement. “However, what these detected blood flow changes mean to a patient’s clinical care is still unclear.” Establish your company as a technology leader! For more than 50 years, the R&D 100 Awards have showcased new products of technological significance. You can join this exclusive community! Learn more.


Cieslak M.,Neurology Clinic | Czarnecka J.,Nicolaus Copernicus University | Roszek K.,Nicolaus Copernicus University
Acta Biochimica Polonica | Year: 2016

Ecto-purines and ecto-pyrimidines are present in the extracellular space of the central nervous system (CNS). Together with P1 and P2 receptors and nucleotides metabolizing ecto-enzymes, they make signaling system involved in neurotransmission, the modulation of sensory signals, including pain stimuli conduction, and the induction of apoptosis and necrosis of the cells. Purines and pyrimidines have a dual effect: positive (neuroprotective) of nucleosides, and negative (pro-inflammatory and pro-apoptotic) of nucleotides. Adenosine-5'-triphosphate (ATP) in the CNS triggers the pro-inflammatory reactions, predominantly by activation of the P2X7 receptor, which results in production and release of pro-inflammatory cytokines. In contrast to ATP, adenosine acts generally as an anti-inflammatory agent and plays an important role in neuroprotection. Currently, it is believed that the initiation of CNS diseases, including mental disorders, is caused by any imbalance between the concentration of ATP and adenosine in the extracellular space. Genetic tests provide also the evidence for the participation of purinergic signaling in psychiatric disorders. It is believed that any action leading to the effective increase of adenosine concentration: activation of nucleotide metabolizing ecto-enzymes (mainly NTPDases - nucleoside triphosphate diphosphohydrolases), inhibition of adenosine deaminase and/or adenosine kinase activity as well as therapies using P1 receptor agonists (adenosine or its analogues) might be beneficial in therapy of psychiatric disorders.


PubMed | Nicolaus Copernicus University and Neurology Clinic
Type: Review | Journal: Pharmacological reports : PR | Year: 2016

Adenine nucleotides and adenosine are signaling molecules that activate purinergic receptors P1 and P2. Activation of A1 adenosine receptors has an anticonvulsant action, whereas activation of A2A receptors might initiate seizures. Therefore, a significant limitation to the use of A1 receptor agonists as drugs in the CNS might be their peripheral side effects. The anti-epileptic activity of adenosine is related to its increased concentration outside the cell. This increase might result from the inhibition of the equilibrative nucleoside transporters (ENTs). Moreover, the implantation of implants or stem cells into the brain might cause slow and persistent increases in adenosine concentrations in the extracellular spaces of the brain. The role of adenosine in seizure inhibition has been confirmed by results demonstrating that in patients with epilepsy, the adenosine kinase (ADK) present in astrocytes is the only purine-metabolizing enzyme that exhibits increased expression. Increased ADK activity causes intensified phosphorylation of adenosine to 5-AMP, which therefore lowers the adenosine level in the extracellular spaces. These changes might initiate astrogliosis and epileptogenesis, which are the manifestations of epilepsy. Seizures might induce inflammatory processes and vice versa. Activation of P2X7 receptors causes intensified release of pro-inflammatory cytokines (IL-1 and TNF-) and activates metabolic pathways that induce inflammatory processes in the CNS. Therefore, antagonists of P2X7 and the interleukin 1 receptor might be efficient drugs for recurring seizures and prolonged status epilepticus. Inhibitors of ADK would simultaneously inhibit the seizures, prevent the astrogliosis and epileptogenesis processes and prevent the formation of new epileptogenic foci. Therefore, these drugs might become beneficial seizure-suppressing drugs.


PubMed | Nicolaus Copernicus University and Neurology Clinic
Type: Journal Article | Journal: Acta biochimica Polonica | Year: 2016

Ecto-purines and ecto-pyrimidines are present in the extracellular space of the central nervous system (CNS). Together with P1 and P2 receptors and nucleotides metabolizing ecto-enzymes, they make signaling system involved in neurotransmission, the modulation of sensory signals, including pain stimuli conduction, and the induction of apoptosis and necrosis of the cells. Purines and pyrimidines have a dual effect: positive (neuroprotective) of nucleosides, and negative (pro-inflammatory and pro-apoptotic) of nucleotides. Adenosine-5-triphosphate (ATP) in the CNS triggers the pro-inflammatory reactions, predominantly by activation of the P2X7 receptor, which results in production and release of pro-inflammatory cytokines. In contrast to ATP, adenosine acts generally as an anti-inflammatory agent and plays an important role in neuroprotection. Currently, it is believed that the initiation of CNS diseases, including mental disorders, is caused by any imbalance between the concentration of ATP and adenosine in the extracellular space. Genetic tests provide also the evidence for the participation of purinergic signaling in psychiatric disorders. It is believed that any action leading to the effective increase of adenosine concentration: activation of nucleotide metabolizing ecto-enzymes (mainly NTPDases - nucleoside triphosphate diphosphohydrolases), inhibition of adenosine deaminase and/or adenosine kinase activity as well as therapies using P1 receptor agonists (adenosine or its analogues) might be beneficial in therapy of psychiatric disorders.


Nourani Khojasteh H.,Shiraz University of Medical Sciences | Amiri A.,Neurology Clinic
Archives of Iranian Medicine | Year: 2013

Congenital homocysteinemia is a genetic disease with various clinical manifestations such as thrombosis, lens dislocation and mental retardation and osteoporosis, so early diagnosis is important for decreasing the mortality and morbidity especially in pediatric populations. Here we describe a child with a presentation of coma with a past history of lens operation with unfortunate fatal clinical course, and a final diagnosis of congenital homocysteinemia.

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