Intractable & Rare Diseases Research
Online ISSN : 2186-361X
Print ISSN : 2186-3644
Advance online publication
Showing 1-6 articles out of 6 articles from Advance online publication
  • Garima Jain, Chandan Kumar, Pankaj Meena, Angel Rajan Singh, Virendra ...
    Article ID: 2018.01097
    Published: 2019
    [Advance publication] Released: February 05, 2019
    JOURNALS FREE ACCESS ADVANCE PUBLICATION

    Hydatid disease is a parasitic infestation caused by Echinococcus, most commonly Echincoccus granulosus. Liver is the most common location followed by lungs. Hydatid involvement of gall bladder is a very rare entity, which masqueraded as gall bladder cancer. Here, we attempt to highlight the relevance of this rare disease and discuss this unique case of a 60-year-old male, who presented with gall bladder mass, abdominal pain, and vomiting. The patient was eventually diagnosed as Hydatid disease. The patient has been treated on medical management and has shown improvement. The manuscript has discussed diagnosis and management of disease along with review of literature.

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  • Manish Chandra Choudhary, Vijeta Bajpai, Lovkesh Anand, Ekta Gupta
    Article ID: 2018.01099
    Published: 2019
    [Advance publication] Released: January 31, 2019
    JOURNALS FREE ACCESS ADVANCE PUBLICATION

    Hepatitis E is a serious public health problem in developing countries. Most of the patients with Hepatitis E virus (HEV) infection present with typical acute hepatitis symptoms. However, in few patients it may lead to complications such as liver failure and extrahepatic symptoms. One of the rare extrahepatic presentations of this infection is neurological complications such as Guillain-Barré syndrome (GBS) which is observed in 5.5% of HEV infected patients (mainly in developed countries). Moreover, only genotype (gt) 3 HEV was found in association with GBS among patients in developed countries whereas molecular characterisation of HEV cases detected from developing countries have not been reported till now. Here, we are reporting a case of GBS as an extrahepatic complication of HEV associated with gt1 identified by molecular characterization by performing PCR of open-reading frame 2 (ORF2) region of HEV. Phylogenetic analysis by maximum likelihood method revealed that HEV gt1 case reported in this paper rooted closely with other HEV gt1 samples from South-Asian countries with high bootstrap values indicative of fully resolved tree.

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  • Azka Latif, Vikas Kapoor, Erin Simmons, Jai Parekh, Venkata Andukuri
    Article ID: 2018.01108
    Published: 2019
    [Advance publication] Released: January 31, 2019
    JOURNALS FREE ACCESS ADVANCE PUBLICATION

    One of the most common cause of arbovirus encephalitis in the United States of America (USA) is West Nile virus (WNV). In immunocompetent hosts, 70-80% of infected individuals have subclinical disease. However, in less than 1% of people infected by WNV it can become fulminant neuroinvasive disease associated with neurological morbidity. Herein, we discuss a case of neuroinvasive WNV disease with non-specific symptoms in an immunocompetent young female in Omaha. Our patient survived the acute phase of WNV encephalitis but has extended recovery to daily functioning. We also reviewed literature on WNV cases in immunocompetent individuals and to the best of our knowledge only 3 cases have been reported to date. The difference between reported cases and our case is her younger age, bilateral upper and lower extremity paralysis, 30 day hospitalization with significant morbidity leading to a prolonged stay at rehabilitation facility with residual cognitive and gross motor impairment. Usually WNV is not considered a differential in immunocompetent individuals which leads to delay in diagnosis, management and therefore increases mortality and morbidity. Therefore purpose of our case report is to raise awareness of atypical presentations of WNV infection in immunocompetent individuals in non-endemic area to emphasize the importance of early diagnosis and management.

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  • Samuel Asanad, Elana Meer, Jack J. Tian, Michele Fantini, Marco Nassis ...
    Article ID: 2018.01126
    Published: 2019
    [Advance publication] Released: January 31, 2019
    JOURNALS FREE ACCESS ADVANCE PUBLICATION

    The purpose of the present article was to evaluate the previously unreported vascular alterations in Leber's Hereditary Optic Neuropathy (LHON) 3460 mitochondrial DNA (mtDNA) mutation. Among the three primary mtDNA mutations, namely 11778, 14484, and 3460, LHON 3460 is the most rare and historically recognized as having the poorest visual prognosis. Optical coherence tomography angiography (OCTA) is a novel imaging modaility providing high-resolution microcirculation maps and enhancing visualization of the optic disc and peripapillary capillary beds. We herein exploit the advantages of OCTA, for the first time, to assess the optic nerve head and peripapillary microvasculature changes in an affected patient and compare these vascular changes with an asymptomatic carrier for LHON 3460, serving as a control. Vascular changes in LHON 11778 and 14484 have classically shown microvasculature attenuation localized specifically to the temporal peripapillary quadrant. In the present case, however, OCTA in LHON 3460, the most severe of the three mutational subtypes, illustrated significant vascular attenuation involving the nasal peripapillary region in addition to the temporal peripapillary microvascular changes classically seen in LHON. Our findings suggest that vascular measures may serve useful for objectively assessing mitochondrial disease. Further OCTA studies involving the nasal peripapillary region may be warranted to further understand vascular pathogenesis in LHON.

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  • Sayantan Banerjee, Nitin Gupta, Parul Kodan, Ankit Mittal, Yogiraj Ray ...
    Article ID: 2018.01130
    Published: 2019
    [Advance publication] Released: January 31, 2019
    JOURNALS FREE ACCESS ADVANCE PUBLICATION

    Nipah virus, an enveloped ribonucleic acid virus, has been a major cause of encephalitis out- breaks with high mortality, primarily in the Indo-Bangladesh regions. Except for the first outbreak in Malaysia-Singapore, which was related to contact with pigs and the outbreak in Philippines associated with horse slaughter, most other outbreaks have affected the Indo- Bangladesh regions. The Indo-Bangladesh outbreaks were associated with consumption of raw date palm sap contaminated by fruit bats and had a very high secondary attack rate. The patient usually presents with fever, encephalitis and/or respiratory involvement with or without thrombocytopenia, leukopenia and transaminitis. Diagnosis can be confirmed by isolation and nucleic acid amplification in the acute phase or antibody detection during the convalescent phase. Treatment is mostly limited to supportive care and syndromic management of acute encephalitis syndrome. Ribavirin, m102.4 monoclonal antibody and favipiravir are the only anti-virals with some activity against Nipah virus. Standard precautions, hand hygiene and personal protective equipments are the cornerstone of comprehensive infection prevention and control strategy. With the recent outbreaks affecting newer geographical areas, there is a need for physicians to be aware of this disease and keep abreast of its current detection and management strategies.

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  • Felix Claverie-Martin, Amelia Trindade, Noriela C. Garcia-Gonzalez, Al ...
    Article ID: 2018.01131
    Published: 2019
    [Advance publication] Released: January 31, 2019
    JOURNALS FREE ACCESS ADVANCE PUBLICATION

    Nail-patella syndrome (NPS) is a rare autosomal dominant disease characterized by developmental defects of dorsal limb structures, the kidney, and the eye, that manifest as dysplastic nails, hypoplastic or absent patella, elbow dysplasia, iliac horns, glomerulopathy, and adult-onset glaucoma, respectively. This disorder is inherited in an autosomal dominant mode and is caused by heterozygous loss-of-function mutations in the LMX1B gene, which encodes the LIM homeodomain transcription factor LMX1B. In this study, we report the clinical findings of a Spanish family, from the Canary Islands, with three affected members who displayed varying phenotypes. DNA sequence analysis identified a novel heterozygous missense mutation in LMX1B, c.305A>G, p.(Y102C), that segregated with the disease. The tyrosine residue affected by the mutation is highly conserved in evolution, and is located in the LIM-A domain, next to one of the cysteine residues involved in zinc binding, suggesting that p.(Y102C) affects LMX1B function by disturbing its interactions with other proteins. Our results expand the mutation spectrum of LMX1B and provide insight into the molecular mechanisms of NPS pathology.

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