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Intractable & Rare Diseases Research - HOME

ISSN Print: 2186-3644

ISSN Online:

主页: http://www.irdrjournal.com/

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A novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging.

Abdulkareem AA,Al-Qahtani MH,Algahtani H,Algahtani R,Naseer MI,Shirah B

Hypogenesis of right hepatic lobe in a laparoscopic cholecystectomy for acute gallstone cholecystitis: A case report.

Araki Y,Fujimoto Y,Hayashi H,Iizaka M,Inomata Y,Irie T,Kumamoto S,Kuramoto K,Nakamura S,Ohya Y,Shibata H,Tomiyasu S,Tuji A

Splice receptor-site mutation c.697-2A>G of the COL1A1 gene in a Chinese family with osteogenesis imperfecta.

Chen M,Fang FL,Han JX,Li TY,Liu JL,Lu YQ,Peng CM,Ren XZ,Wang YZ,Zhai NX,Zhang SE,Zhang SS

The progress of, challenges faced by, and future of rare disease patient organizations in China.

He JJ,Hu JH,Huang RF,Jin CL,Kang Q,Kong FX,Tang M,Wei YS,Yang Y

Nipah virus disease: A rare and intractable disease.

Banerjee S,Biswas A,Gupta N,Kodan P,Mittal A,Nischal N,Ray Y,Soneja M,Wig N

Partial trisomy 9 (9pter->9q22.1) and partial monosomy 14 (14pter- >14q11.2) due to paternal translocation t(9;14)(q22.1;q11.2) in a case of Dysmorphic features.

Dhangar S,Korgaonkar S,Vundinti BR

A novel mutation in CACNA1A gene in a Saudi female with episodic ataxia type 2 with no response to acetazolamide or 4-aminopyridine.

Abdulkareem AA,Al-Qahtani MH,Algahtani H,Algahtani R,Naseer MI,Shirah B

Anesthesia management of arthroscopic ankle arthrodesis for a hemophilia patient after living-donor liver transplantation.

Ako R,Orii R,Shibata R

Propranolol and ascorbic acid in control of fibrodysplasia ossificans progressiva flare-ups due to accidental falls.

Alves F,Balaniuc SLB,Brum JMG,Giuliani LR,Martins AS,Milsted A,Nascimento DR,Palhares DB,Palhares MG,Santos RAS,Souza-Fagundes EM,Underwood A,Vieira FO,Xavier PCN

Retroperitoneal fibrosis associated with orbital pseudotumor without evidence of IgG4: A case report with review of literature.

Alonso-Mu？oz J,Cervilla-Mu？oz E,Galeano-Valle F,Marcelo-Ayala A,Pulfer MD,Pérez-Sanz MT

Novel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella syndrome.

Callejon Callejon A,Claverie-Martin F,Garcia-Gonzalez NC,Trindade A

Focusing on basic data and a model of healthcare security for rare diseases: The Multidisciplinary Expert Seminar on Healthcare Security for Rare Diseases in China was held in Beijing.

Jin CL,Kang Q,Li DG

Effectiveness of endoscopic transsphenoidal surgery for gonadotroph adenoma mimicking dementia: A case report.

Abe I,Hanada H,Haraoka S,Inoue R,Mitsutake T,Morinaga Y,Nii K,Sakamoto K

A preliminary study on the mechanism of skeletal abnormalities in Turner syndrome using inducing pluripotent stem cells (iPS)-based disease models.

Cui XX,Cui YZ,Han JX,Luan J,Shi L,Zhou XY

Laparoscopic treatment of median arcuate ligament syndrome.

Sun ZP,Xu GZ,Zhang DD,Zhang NW

Guillain-Barré syndrome in a patient of acute Hepatitis E virus infection associated with genotype 1: Case report and literature review.

Anand L,Bajpai V,Choudhary MC,Gupta E

Hydatid cyst of gall bladder masquerading as carcinoma: A rare case report with review of literature.

Jain G,Kumar C,Kumar S,Kumar V,Meena P,Singh AR,Tanwar P

Two-staged biliary reconstruction with temporary complete external biliary drainage as a bailout procedure in a pediatric patient after difficult living donor liver retransplantation.

Hibi T,Ibuki S,Narita Y,Shimata K,Sugawara Y,Yamamoto H

Pituitary incidentaloma diagnosed as acromegaly triggered by trauma: A case report.

Abe I,Hanada H,Haraoka S,Inoue R,Mitsutake T,Morinaga Y,Nii K,Sakamoto K

Heart rate variability in a patient with alternating hemiplegia.

Hirose S,Ishii A,Kobayashi M,Nakashima T,Wada H,Yasuda K

Tumefactive fibroinflammatory lesion successfully treated with Rituximab.

Bishop J,Bryan L,Byrd JK,Savage N

Advantages of ddPCR in detection of PLP1 duplications.

Imaizumi T,Yamamoto T,Yamamoto-Shimojima K

A potential significance of circ_0024169 down regulation in angiosarcoma tissue.

Amoh Y,Fukushima S,Harada M,Ide M,Igata T,Ihn H,Jinnin M,Kajihara I,Masuguchi S,Masuzawa M,Nakashima S

Network established to collaborate on diagnosis and treatment of rare diseases in China: A strategic alliance backed by tiered healthcare is the key to the future.

Ren QL,Wang JB

Molecular spectrum and allelic frequency of different subtypes (1,2, 3, 6 and 7) of Spinocerebellar ataxia in the Indian population.

Agarwal S,Vishwakarma P

Leber's hereditary optic neuropathy: Severe vascular pathology in a severe primary mutation.

Asanad S,Fantini M,Meer E,Nassisi M,Sadun AA,Tian JJ

Budd-Chiari Syndrome in Beh？et's Disease successfully managed with immunosuppressive and anticoagulant therapy: A case report and literature review.

Del Toro-Cervera J,Demelo-Rodriguez P,Galeano-Valle F,García-García A,Oblitas CM,Pinilla-Llorente B,Toledo-Samaniego N,álvarez-Luque A

The expression of EpCAM in extramammary Paget's disease.

Ihn H,Kajihara I,Maeda-Otsuka S,Sakamoto R,Tasaki Y,Yamada-Kanazawa S

West Nile virus encephalitis in a young immunocompetent female in Omaha Nebraska.

Andukuri V,Kapoor V,Latif A,Parekh J,Simmons E

Management strategies in facioscapulohumeral muscular dystrophy.

Lu JR,Yang Y,Yao ZJ,Zhang C,Zhang J,Zhang Y

Marketing of drugs for rare diseases is speeding up in China: Looking at the example of drugs for mucopolysaccharidosis

He JJ,Hu JH,Jin CL,Kang Q,Tang M,Yang N,Yang Y

Torcular herophili and lateral sinus thrombosis: An atypical presentation of Lemièrre's syndrome.

Baltasar-Corral J,Del-Toro-Cervera J,Del-Valle-Diéguez M,Demelo-Rodríguez P,Galeano-Valle F,Martín-Rojas RM,Parra-Virto A

Successful percutaneous computed tomography guided drainage of mediastinal abscess in esophageal perforation.

Ali M,Kapoor V,Mirza M,Selim M,Stavas J

Accessibility of drugs for rare diseases in China: Policies and current situation

He JJ,Hu JH,Jin CL,Kang Q,Kong FX,Tang M,Yang Y

Incidence and prevalence of 121 rare diseases in China: Current status and challenges.

Chen D,He JJ,Hu JH,Jin CL,Kang Q,Song PP,Tang M,Yang Y,Zhang XY

Genetics of hereditary hearing loss in east Iran population: A systematic review of GJB2 mutations.

Abolhasani M,Azadegan-Dehkordi F,Hashemzadeh-Chaleshtori M,Koohian F,Koohiyan M

Narrow-band chirp and tone burst auditory brainstem response as an early indicator of synaptopathy in industrial workers exposed to occupational noise.

Adithya S,Divyashree KN,Keerthana KP,Konadath S,Lakshmi A,Megha KN,Pushpalatha ZV

Syndromic progressive neurodegenerative disease of infancy caused by novel variants in HIBCH: Report of two cases in Colombia.

Caicedo-Herrera G,Candelo E,Cochard L,Diaz-Ordo？ez L,Gomez JF,Granados AM,Pachajoa H,Ramirez-Monta？o D

Pre-Paget cells: Evidence of keratinocyte origin of extramammary Paget's disease.

Smith AA

Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen.

Han JX,Lu YQ,Ren XZ,Wang YZ,Zhang SE

Microglia express GPNMB in the brains of Alzheimer's disease and Nasu-Hakola disease.

Ishida T,Kino Y,Saito Y,Satoh J,Yanaizu M

Goldston syndrome with congenital hepatic fibrosis: A rare cause of neonatal cholestasis.

Agrwal S,Dabas A,Jhamb U,Pal T

An up-date on novel molecular targets in testicular germ cell tumors subtypes.

Chieffi P

A brief introduction to China's new Drug Administration Law and its impact on medications for rare diseases.

Chen D,He JJ,Wang YQ

Coronary artery disease and mesenteric artery stenosis - Two sides of the same coin? - Long term prospective analysis.

Kannan K,Krishnamurthy G,Menon A,Philips D,Prakash S,Rajendran A

Malignant transformation of hepatic adenoma complicated by rupture and hemorrhage: An extremely rare clinical entity.

Girgis S,Low G,Manolea F,Mathew RP,Patel V

A case of recurrent progressive multifocal leukoencephalopathy after human stem cell transplant, with detection of John Cunningham virus and human herpesvirus 6 on cerebrospinal fluid, treated with Mirtazapine, Olanzapine and Foscarnet.

Barilaro A,Carlucci G,Fratangelo R,Massacesi L,Mazzeo S,Pasca M,Picchioni A,Prestipino E,Repice A,Terenzi F

Anaplastic glioneuronal tumor with KIAA1549/BRAF fusion.

Liu L,Narayan P,Xiong J,Xiong Z

A curious case of disseminated cysticercosis in an immunocompetent adult.

Kapoor V,Latif A,Mirza M,Velagapudi M,Weum B

Successful anaesthesia management of a child with hunter syndrome for adenotonsillectomy.

Ankalagi B,Kaler P,Prasad A,Punj J,Sagar P,Sinha R

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