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https://www.readbyqxmd.com/read/27920683/squamous-cell-carcinoma-in-african-children-with-xeroderma-pigmentosum-three-case-reports
#1
Mamadou Kaloga, Pauline Dioussé, Boubacar Ahy Diatta, Mariama Bammo, Sarah Kourouma, Almamy Diabate, Ndiaga Gueye, Haby Dione, Moussa Diallo, Bernard Marcel Diop
INTRODUCTION: Xeroderma pigmentosum is a rare autosomal recessive genetic disease. This disease predisposes patients to early-onset skin cancers, particularly squamous cell carcinoma. Here, we report 3 pediatric cases, including 2 deaths. OBSERVATION: The subjects included 2 boys and 1 girl with skin type VI. All subjects were from consanguineous marriages, and the average age was 7.6 years. The patients all had ulcerative budding tumor lesions in the cephalic region, and the mean disease duration was 18 months...
September 2016: Case Reports in Dermatology
https://www.readbyqxmd.com/read/27919795/current-and-novel-insights-into-the-neurophysiology-of-migraine-and-its-implications-for-therapeutics
#2
REVIEW
Simon Akerman, Marcela Romero-Reyes, Philip R Holland
Migraine headache and its associated symptoms have plagued humans for two millennia. It is manifest throughout the world, and affects more than 1/6 of the global population. It is the most common brain disorder, and is characterized by moderate to severe unilateral headache that is accompanied by vomiting, nausea, photophobia, phonophobia, and other hypersensitive symptoms of the senses. While there is still a clear lack of understanding of its neurophysiology, it is beginning to be understood, and it seems to suggest migraine is a disorder of brain sensory processing, characterized by a generalized neuronal hyperexcitability...
December 2, 2016: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/27909097/induction-of-migraine-like-photophobic-behavior-in-mice-by-both-peripheral-and-central-cgrp-mechanisms
#3
Bianca N Mason, Eric A Kaiser, Adisa Kuburas, Maria-Cristina M Loomis, John A Latham, Leon F Garcia-Martinez, Andrew F Russo
: The neuropeptide calcitonin gene-related peptide (CGRP) is a key player in migraine. While migraine can be treated using CGRP antagonists that act peripherally, the relevant sites of CGRP action remain unknown. To address the role of CGRP both within and outside the central nervous system, we used CGRP-induced light aversive behavior in mice as a measure of migraine-associated photophobia. Peripheral (intraperitoneal, IP) injection of CGRP resulted in light aversive behavior in wild-type CD1 mice similar to aversion previously seen following central (intracerebroventricular, ICV) injection...
December 1, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27891499/a-presumptive-case-of-human-rabies-a-rare-survived-case-in-rural-ghana
#4
Paschal Awingura Apanga, John Koku Awoonor-Williams, Michael Acheampong, Matthew Ayamba Adam
Rabies remains endemic in Ghana and continues to pose a major public health threat to humans and animals with a nearly 100% case fatality rate in humans. We report of a presumptive case of human rabies whose survival represents a rare occurrence in rural Ghana and worldwide. Lessons from this case study provide a critically needed focus in helping improve rabies surveillance and case management in Ghana. We report of the survival of a 36-year-old man who developed clinical rabies after he was bitten by his dog, while restraining the dog with a chain...
2016: Frontiers in Public Health
https://www.readbyqxmd.com/read/27888572/adverse-effect-profile-of-topical-ocular-administration-of-fingolimod-for-treatment-of-dry-eye-disease
#5
Weibao Xiao, Li Sun, Nan Zhang, Wen Ye
Fingolimod is a promising prodrug in attenuating multiple sclerosis and prolonging survival of organ allograft, with many other protective effects. Its mechanism of action is related to the internalization of sphingosine 1-phosphate receptors (S1PRs). Our previous study indicated that fingolimod eyedrop was efficacious in inhibiting ocular inflammation in a dry eye disease (DED) model of Non-Obese Diabetic (NOD) mice. In the current study, we evaluated potential adverse effects of fingolimod eyedrop. Inbred 10-week-old BALB/C mice were randomly divided into four groups, fingolimod-treated groups at three different concentrations (0...
November 26, 2016: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/27886414/chronic-ghrelin-treatment-reduced-photophobia-and-anxiety-like-behaviors-in-ntg-induced-migraine-role-of-pituitary-adenylate-cyclase-activating-polypeptide
#6
Fereshteh Farajdokht, Shirin Babri, Pouran Karimi, Mohammad Reza Alipour, Ramin Bughchechi, Gisou Mohaddes
Chronic migraine is a debilitating disorder that has a significant impact on patients and society. Nearly all migraineurs frequently reported light sensitivity during a headache attack. Pituitary adenylate cyclase-activating polypeptide (PACAP) plays an important role in the activation of trigeminal system and migraine pain. To identify the effect of chronic ghrelin treatment on endogenous PACAP and associated symptoms of migraine, an experimental chronic migraine model was induced by intermittent intraperitoneal (i...
November 25, 2016: European Journal of Neuroscience
https://www.readbyqxmd.com/read/27882301/prolonged-shedding-of-chikungunya-virus-in-semen-and-urine-a-new-perspective-for-diagnosis-and-implications-for-transmission
#7
Antonio Carlos Bandeira, Gubio Soares Campos, Veronica França Diniz Rocha, Bruno Solano de Freitas Souza, Milena Botelho Pereira Soares, Alexsandro Araujo Oliveira, Yara Carvalho de Abreu, Gabriela Sant Ana Menezes, Silvia Ines Sardi
We report the presence of Chikungunya (CHIKV) RNA in the blood, urine and semen during the acute phase of the disease in an adult with a dual infection with Dengue virus type 3. The patient, a 25 yr-old man from Salvador, Brazil, reported a 6-day duration of high fever, arthralgia, myalgia, headache and photophobia.Blood and semen specimens were positive for CHIKV in the first collected samples; semen and urine specimens were positive for CHIKV after 30 days of symptoms onset. DENV-3 RNA was positive in blood specimen when first collected 6 days after the initiation of symptoms...
2016: IDCases
https://www.readbyqxmd.com/read/27878586/-parainfectious-optic-neuritis-with-macular-infiltrate-in-neisseria-meningitidis-b-meningitis
#8
A Chronopoulos, F Hoogewoud, H Steffen, G Thumann
OBJECTIVE: We report on the case of a young immunocompetent female patient with parainfectious optic neuritis and macular inflitrate due to Neisseria meningitidis B meningitis. METHOD: Case report RESULTS: A 22-year-old female patient was admitted to the emergency department for intensive care treatment with a strong suspicion of meningitis. Clinical and serological parameters were indicative of a bacterial genesis of the meningitis. By analysis of the cerebrospinal fluid (CSF) Neisseria meningitidis type B could be detected...
November 23, 2016: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/27873123/vestibular-migraine-in-children-and-adolescents
#9
REVIEW
Thyra Langhagen, Mirjam N Landgraf, Doreen Huppert, Florian Heinen, Klaus Jahn
PURPOSE OF REVIEW: The goal of this review is to provide an actualized overview on vestibular migraine in childhood and adolescence, with focus on the epidemiology and clinical presentation as well as its treatment. RECENT FINDINGS: Vertigo spells in childhood can evolve into other periodic syndromes and/or migraine types and persist even into adulthood. Vestibular migraine (VM) and benign paroxysmal vertigo are the most common causes of vertigo in children and adolescents...
December 2016: Current Pain and Headache Reports
https://www.readbyqxmd.com/read/27872779/ultra-wide-field-fluorescein-angiography-in-microscopic-polyangiitis
#10
Philip P Storey, Shannon A Philander, Anna Ter-Zakarian, Narsing A Rao, Damien C Rodger
A 25-year-old Hispanic female presented with 5 months of dry eyes and 2 months of bilateral photophobia and decreased vision. On examination, she had bilateral anterior uveitis and mild disc edema of the left eye. A complete infectious and inflammatory work-up was positive for elevated antinuclear antibodies and p-ANCA, leading to a diagnosis of microscopic polyangiitis. One year after initial treatment and steroid taper, an ultra-wide-field fluorescein angiography revealed peripheral vasculitis, outside of the standard traditional field of view, leading to an increase in immunomodulatory therapy and illustrating the utility of wide-field angiography for managing patients with uveitis...
2016: Case Reports in Ophthalmological Medicine
https://www.readbyqxmd.com/read/27861832/cluster-headache-with-accompanying-migraine-like-features-a-possible-clinical-phenotype
#11
Arens Taga, Marco Russo, Gian Camillo Manzoni, Paola Torelli
BACKGROUND: There are limited literature data on migraine-like accompanying features (MLF) in patients with cluster headache (CH). These symptoms are frequently reported by patients and may delay CH diagnosis. OBJECTIVE: The aim of the present study was to investigate the occurrence of migraine-like symptoms in an Italian case series of CH patients and to determine whether these features influence the clinical phenotype of CH. METHODS: A cross-sectional study was performed in all consecutive patients referred to the Parma Headache Centre between 1975 and 2013 affected by CH; the cases were subsequently reviewed applying the ICHD3-beta criteria...
November 10, 2016: Headache
https://www.readbyqxmd.com/read/27861312/peripheral-ulcerative-keratitis-secondary-to-chronic-hepatitis-b-infection
#12
David W Wei, Christian Pagnoux, Clara C Chan
PURPOSE: To report a unique case of peripheral ulcerative keratitis secondary to hepatitis B virus (HBV)-associated cryoglobulinemia and vasculitis and its pharmacological and surgical treatment and 2-year follow-up. METHODS: A 52-year-old woman presented with unilateral eye pain and photophobia, arthralgia, remnants of a maculopapular rash, and subsequently facial numbness several weeks later. Her best spectacle-corrected visual acuity (BSCVA) in the affected eye was 20/80...
November 16, 2016: Cornea
https://www.readbyqxmd.com/read/27832414/herpetiform-keratitis-and-palmoplantar-hyperkeratosis-warning-signs-for-richner-hanhart-syndrome
#13
Diogo C Soares, Mariana N Stroparo, Yu C Lian, Cristina Y Takakura, Sabrina Wolf, Regina Betz, Chong A Kim
Richner-Hanhart syndrome (RHS, tyrosinemia type II) is a rare, autosomal recessive inborn error of tyrosine metabolism caused by tyrosine aminotransferase deficiency. It is characterized by photophobia due to keratitis, painful palmoplantar hyperkeratosis, variable mental retardation, and elevated serum tyrosine levels. Patients are often misdiagnosed with herpes simplex keratitis. We report on a a boy from Brazil who presented with bilateral keratitis secondary to RHS, which had earlier been misdiagnosed as herpes simplex keratitis...
November 10, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27829965/magnetic-resonance-imaging-characteristics-of-hyperacute-intracerebral-hemorrhage
#14
Sulaiman Iftikhar, Nicholas Rossi, Nitin Goyal, Nickalus Khan, Adam Arthur, Ramin Zand
BACKGROUND: Magnetic resonance imaging (MRI) of the brain is highly sensitive for detecting intracerebral hemorrhage (ICH). Understanding of the imaging characteristics of hyperacute ICH is limited secondary to availability and increased time to scan relative to other imaging modalities. OBJECTIVE: In this report, we present the MRI characteristics of two patients who developed ICH while on the MRI table. METHODS: A 44-year-old women presented with week-long headache associated with blurry vision and photophobia...
October 2016: Journal of Vascular and Interventional Neurology
https://www.readbyqxmd.com/read/27829389/chronic-post-operative-iris-prosthesis-endophthalmitis-in-a-patient-with-traumatic-aniridia-a-case-report
#15
Kevin C Firl, Sandra R Montezuma
BACKGROUND: Post-operative endophthalmitis is a serious complication of intraocular surgery which may present acutely or chronically. Chronic post-operative endophthalmitis is characterized by decreased visual acuity, mild pain, and low-grade uveitis several weeks or months after intraocular surgery which may be responsive to corticosteroids, but recur upon tapering. Low virulence organisms such as Propionibacterium acnes are the most common culprit organisms, and treatment most often consists of both intravitreal antibiotic injections and surgery...
November 9, 2016: BMC Ophthalmology
https://www.readbyqxmd.com/read/27829221/mutation-analysis-of-a-chinese-family-with-oculocutaneous-albinism
#16
Xiong Wang, Yaowu Zhu, Na Shen, Jing Peng, Chunyu Wang, Haiyi Liu, Yanjun Lu
Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by either complete lack of or a reduction in melanin biosynthesis in the skin, hair, and eyes. OCA1, the most common and severe type, is caused by mutations in the tyrosinase (TYR) gene. In this study, we report a Chinese family with two members affected by OCA. Blood samples were collected from all family members. Genomic DNA was isolated from blood leukocytes, and all coding exons and adjacent intronic sequences of the TYR gene were examined for mutation analysis using polymerase chain reaction (PCR)-based sequencing...
November 4, 2016: Oncotarget
https://www.readbyqxmd.com/read/27799745/pathophysiology-of-visual-disorders-induced-by-phosphodiesterase-inhibitors-in-the-treatment-of-erectile-dysfunction
#17
REVIEW
Marilita M Moschos, Eirini Nitoda
AIM: The aim of this review was to summarize the ocular action of the most common phosphodiesterase (PDE) inhibitors used for the treatment of erectile dysfunction and the subsequent visual disorders. METHOD: This is a literature review of several important articles focusing on the pathophysiology of visual disorders induced by PDE inhibitors. RESULTS: PDE inhibitors have been associated with ocular side effects, including changes in color vision and light perception, blurred vision, transient alterations in electroretinogram (ERG), conjunctival hyperemia, ocular pain, and photophobia...
2016: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/27795222/-immunological-evaluation-during-treatment-of-a-case-of-borderline-lepromatous-leprosy
#18
Blanca María Morfín-Maciel, María Carmen Jiménez Martínez
BACKGROUND: Leprosy is a chronic granulomatous infection that affects skin and peripheral nerves. Its prevalence has declined, but is still observed mainly in poor rural areas. CASE REPORT: A male city dweller with photophobia and chronic dermatosis in the face: nodular and erythematous lesions, pustules, keratitis and entropion, partial eyebrows loss, and edema on eyelids, chin, and nose bridge. The rest of the body had no lesion or lymphadenopathy. Biopsy revealed Langhans giant cell proliferation in the superficial dermis without epidermal atrophy...
October 2016: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/27792800/cutaneous-allodynia-and-its-risk-factors-in-korean-patients-with-migraine-a-survey-of-two-tertiary-care-hospitals
#19
Sun-Young Kim, Sung-Pa Park
AIMS: To measure the prevalence of cutaneous allodynia in Korean patients with migraine and to characterize the differential risks of migraine-associated factors and psychiatric disorders in its development. METHODS: The study included consecutive patients with migraine who visited headache clinics at two tertiary care hospitals. Questionnaires including the 12-item Allodynia Symptom Checklist (ASC-12) and the Migraine Disability Assessment (MIDAS) were administered to the patients...
October 2016: Journal of Oral & Facial Pain and Headache
https://www.readbyqxmd.com/read/27777912/endocrine-complications-during-and-after-adolescence-in-a-patient-with-cystinosis
#20
Moon Bae Ahn, Sung Eun Kim, Won Kyoung Cho, Min Ho Jung, Byung Kyu Suh
Cystinosis is a rare disease characterized by abnormal lysosomal cystine accumulation of cystine due to impaired lysosomal transport. We previously reported the first case of cystinosis in Korea in a 12-year-old boy with short stature, general weakness, and photophobia. The diagnosis was confirmed based on ophthalmic findings and biochemical analyses (serum leukocyte cystine measurement). Major endocrine manifestations at diagnosis included hypothyroidism, growth retardation, and hypogonadism. Despite oral cysteamine administration and renal replacement therapy, multiple complications including both endocrine and nonendocrine disorders developed during and after adolescence...
September 2016: Annals of Pediatric Endocrinology & Metabolism
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