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https://www.readbyqxmd.com/read/29141386/-clinical-characteristics-and-surgical-effect-observation-of-congenital-aniridia-combined-with-cataract
#1
X H Wu, Q Z Cao, Y X Hu, J N Lin, H T Lin, W R Chen, Y Z Liu
Objective: To analyze the clinical manifestations, surgical approaches and postoperative prognosis for the cases of congenital aniridia combined with cataract. Methods: In this retrospective case series, 26 patients diagnosed with congenital aniridia combined with cataract were collected from Zhongshan Ophthalmic Center from February 2002 to August 2016. The Clinical data were collected to analyze the clinical features, surgical approaches and postoperative prognosis. T-test was used for statistical analysis...
November 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29141250/a-small-supernumerary-marker-derived-from-the-pericentromeric-region-of-chromosome-5-case-report-and-delineation-of-partial-trisomy-5p-phenotype
#2
Letizia Camerota, Mariabernarda Pitzianti, Diana Postorivo, Anna M Nardone, Claudio Ligas, Costanzo Moretti, Augusto Pasini, Francesco Brancati
A 17-year-old girl presented with a distinct phenotype mainly featuring craniofacial dysmorphism, including a disproportioned large, round, elongated face; hypertelorism; deep-set eyes with short palpebral fissures; obesity (BMI 37), and a neuropsychiatric disorder with high-functioning autism. Postnatal conventional cytogenetic analyses from peripheral blood revealed a mosaic small supernumerary marker chromosome (sSMC) with a mos 47,XX,+mar[7]/46,XX[43] karyotype. By cenM-FISH technique, the sSMC was identified as a ring derivative of chromosome 5...
November 16, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29140941/phenotype-and-management-of-infantile-onset-inflammatory-bowel-disease-experience-from-a-tertiary-care-center-in-china
#3
Ziqing Ye, Ying Zhou, Ying Huang, Yuhuan Wang, Junping Lu, Zifei Tang, Shijian Miao, Kuiran Dong, Zhinong Jiang
BACKGROUND: Infantile-onset inflammatory bowel disease (IBD) comprises rare and clinically severe disorders. We examined the phenotypes and genetic causes of patients with infantile-onset IBD from a tertiary medical center. METHODS: We enrolled 38 patients with infantile-onset IBD and applied standardized treatment with medical, surgical, and supportive care. Targeted sequencing and whole-exome sequencing were performed. Clinical data were retrieved from medical records...
December 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/29140751/further-delineation-of-the-oculoauricular-syndrome-phenotype-a-new-family-with-a-novel-truncating-hmx1-mutation
#4
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Mennat I Mehrez, Ahmad M Kamal, Mohamed B Taher, Hanan H Afifi
Biallelic HMX1 mutations cause a very rare autosomal recessive genetic disorder termed as oculoauricular syndrome (OAS) because it is characterized only by the combination of eye and ear anomalies. We identified a new family bringing to three the total families reported with this disorder. Our proband presented with anteriorly protruded ears and malformed ear pinnae in association with microphthalmia, congenital cataract, microcornea, and iris and optic disc colobomata. Additionally, he had high and broad forehead with asymmetry giving a recognizable facial gestalt...
November 15, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29140481/excessive-burden-of-lysosomal-storage-disorder-gene-variants-in-parkinson-s-disease
#5
Laurie A Robak, Iris E Jansen, Jeroen van Rooij, André G Uitterlinden, Robert Kraaij, Joseph Jankovic, Peter Heutink, Joshua M Shulman
Mutations in the glucocerebrosidase gene (GBA), which cause Gaucher disease, are also potent risk factors for Parkinson's disease. We examined whether a genetic burden of variants in other lysosomal storage disorder genes is more broadly associated with Parkinson's disease susceptibility. The sequence kernel association test was used to interrogate variant burden among 54 lysosomal storage disorder genes, leveraging whole exome sequencing data from 1156 Parkinson's disease cases and 1679 control subjects. We discovered a significant burden of rare, likely damaging lysosomal storage disorder gene variants in association with Parkinson's disease risk...
November 13, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29140387/full-mouth-rehabilitation-with-calvarium-bone-grafts-and-dental-implants-for-a-papillon-lef%C3%A3-vre-syndrome-patient-case-report
#6
Bassam M Kinaia, Kristyn Hope, Ahmed Zuhaili, Jean Francois Tulasne
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder of keratinization associated with palmoplantar keratoderma and severe periodontitis resulting in complete edentulism in late adolescence. The pathognomonic dental features of PLS are pathologic migration, hypermobility, and exfoliation of the teeth without any signs of root resorption. It has been suggested that an effective way to treat PLS patients presenting early in the disease progression is extraction of the erupted primary dentition or hopeless permanent teeth followed by antibiotic coverage with periodontal therapy for the remaining teeth...
November 2017: International Journal of Oral & Maxillofacial Implants
https://www.readbyqxmd.com/read/29139565/leukocyte-adhesion-defect-i-rare-primary-immune-deficiency
#7
Nitesh Tewari, Vijay Prakash Mathur, Vikender Singh Yadav, Prabhat Chaudhari
Leukocyte adhesion defect I is a rare disorder (1:1,000,000) caused by diminished expression of CD-18 β2 integrins on leukocytes leading to abnormal adhesion, migration, and chemotaxis. Clinical manifestations include delayed separation of umbilical cord, omphalitis, recurrent severe infections, impaired wound healing, persistent oral ulcers, and severe periodontitis in primary and permanent dentition. A 5-year-old girl, second-born child to parents with consanguinity, presented with pain and mobility of lower teeth...
November 15, 2017: Special Care in Dentistry
https://www.readbyqxmd.com/read/29139196/education-and-employment-outcomes-of-young-adults-with-a-history-of-developmental-language-disorder
#8
Gina Conti-Ramsden, Kevin Durkin, Umar Toseeb, Nicola Botting, Andrew Pickles
BACKGROUND: Developmental language disorder (DLD) presents a considerable barrier for young adults to engage in further education and training. Early studies with young adults with DLD revealed poor educational achievement and lack of opportunities to progress in education. More recent studies have provided more positive findings. Relatively sparse data exist, however, on current cohorts and the factors that predict outcomes. AIMS: To examine educational and employment outcomes in young adulthood in a sample of people with histories of DLD compared with an age-matched peer group without DLD...
November 15, 2017: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/29138706/radiological-diagnosis-of-a-rare-premature-aging-genetic-disorder-progeria-hutchinson-gilford-syndrome
#9
Haji Mohammed Nazir, Akshiitha Ramesh Baabhu, Yuvaraj Muralidharan, Seena Cheppala Rajan
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare disease with a combination of short stature, bone abnormalities, premature ageing, and skin changes. Though the physical appearance of these patients is characteristic, there is little emphasis on the characteristic radiological features. In this paper, we report a 16-year-old boy with clinical and radiological features of this rare genetic disorder. He had a characteristic facial appearance with a large head, large eyes, thin nose with beaked tip, small chin, protruding ears, prominent scalp veins, and absence of hair...
2017: Case Reports in Radiology
https://www.readbyqxmd.com/read/29138705/physiotherapy-and-rehabilitation-in-a-child-with-joubert-syndrome
#10
Özge İpek, Özge Akyolcu, Banu Bayar
Objective: Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. The purpose of this study was to report the efficiency of the physiotherapy and rehabilitation program in a child with JS. Materials and Methods: Our case is a 19-month-old female child with mild clinical signs of JS. The pretreatment and posttreatment motor functioning level of the case was evaluated through the Gross Motor Function Measure (GMFM), whereas the independence level was evaluated through the Pediatric Functional Independence Measure (WeeFIM)...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29138281/a-conserved-cytoskeletal-signaling-cascade-mediates-neurotoxicity-of-ftdp-17-tau-mutations-in-vivo
#11
Farah H Bardai, Liqun Wang, Yamini Mutreja, Mythili Yenjerla, T Chris Gamblin, Mel B Feany
The microtubule binding protein tau is strongly implicated in multiple neurodegenerative disorders, including frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), which is caused by mutations in tau. In vitro, FTDP-17 mutant versions of tau can reduce microtubule binding and increase aggregation of tau, but the mechanism by which these mutations promote disease in vivo is not clear. Here we take a combined biochemical and in vivo modeling approach to define functional properties of tau driving neurotoxicity in vivo We express wild type human tau and five FTDP-17 mutant forms of tau in Drosophila using a site-directed insertion strategy to ensure equivalent levels of expression...
November 14, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29138020/moyamoya-syndrome-in-a-pediatric-patient-with-congenital-human-immunodeficiency-virus-type-1-infection-resulting-in-intracranial-hemorrhage
#12
Junko Yamanaka, Ikuma Nozaki, Mizue Tanaka, Hideko Uryuu, Noriko Sato, Takeji Matsushita, Hiroyuki Shichino
In the era of Antiretroviral Therapy (ART) in which human immunodeficiency virus type 1 (HIV-1) infection affected children can expect a better prognosis, the importance of careful follow up of pediatric HIV-1 cases for neurological complications has been growing. We present a case of hemorrhagic Moyamoya syndrome in a child with congenital HIV-1 infection. A 10-year-old girl was referred to our hospital for the treatment of Pneumocystis Jirovecii Pneumonia (PCP: Pneumocystis pneumonia). Her HIV-1 control was poor and Moyamoya syndrome was found during the opportunistic infection screening at admission...
November 11, 2017: Journal of Infection and Chemotherapy: Official Journal of the Japan Society of Chemotherapy
https://www.readbyqxmd.com/read/29137935/prostatic-adenocarcinoma-in-the-setting-of-persistent-m%C3%A3-llerian-duct-syndrome-a-case-report
#13
Zulfia McCroskey, Tracie M Koen, David J Lim, Mukul K Divatia, Steven S Shen, Alberto G Ayala, Jae Y Ro
Persistent Müllerian Duct Syndrome (PMDS) is a form of disordered sex development in which rudimentary Müllerian structures are identified in phenotypically and genotypically normal males. It is caused by defects in the anti-Müllerian hormone (AMH) system. Since patients with PMDS present with undescended testes, testosterone production by Leydig cells later in life is often decreased. The role of androgens in prostate cancerogenesis is well known. Cryptorchid testes and diminished testosterone levels in post pubertal life in patients with PMDS play a protective role against prostate cancer, and hence, prostate cancer is a rare event in patients with PMDS...
November 11, 2017: Human Pathology
https://www.readbyqxmd.com/read/29137918/spinobulbar-muscular-atrophy-combined-with-atypical-hereditary-neuropathy-with-liability-to-pressure-palsy
#14
Kyomin Choi, So Hyun Ahn, Seol-Hee Baek, Jun-Soon Kim, Seok-Jin Choi, Je-Young Shin, Sung-Min Kim, Yoon-Ho Hong, Jung-Joon Sung
Spinobulbar muscular atrophy (SBMA) is an X-linked recessive disease, presenting motor weakness and wasting of facial, bulbar and limb muscles. Hereditary neuropathy with liability to pressure palsy (HNPP) is autosomal dominant disorder characterized by recurrent neuropathies at common entrapment sites. We report a case of co-existence of SBMA and atypical HNPP with genetic confirmation of CAG expansion in the androgen receptor (AR) gene and deletion of the peripheral myelin protein 22 (PMP22) gene. A 62-year-old man presented with progressive muscle weakness, fasciculations in upper and lower limbs and dysesthesia predominantly in the distal regions...
November 11, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29137617/surgical-treatment-for-diffused-type-giant-cell-tumor-pigmented-villonodular-synovitis-about-the-ankle-joint
#15
Xingchen Li, Yang Xu, Yuan Zhu, Xiangyang Xu
BACKGROUND: Diffused-type giant cell tumor(Dt-GCT) is a rare, aggressive disorder of the joint synovium, bursa and tendon sheaths. Osseous erosions and subchondral cysts may develop as the result of synovium infiltration in Dt-GCT. We present a retrospective study of a series of patients who are diagnosed with Dt-GCT about the ankle joint, there clinical outcome is evaluated in this study. MATERIAL AND METHOD: Fifteen patients with radiologically and histologically confirmed Dt-GCT about the ankle joint were identified in our foot and ankle department...
November 14, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/29137068/carnitine-acylcarnitine-translocase-deficiency-with-c-199-10-t-g-and-novel-c-1a-g-mutation-two-case-reports-and-brief-literature-review
#16
Hui-Ming Yan, Hao Hu, Aisha Ahmed, Bing-Bing Feng, Jing Liu, Zheng-Jun Jia, Hua Wang
RATIONALE: Carnitine-acylcarnitine translocate deficiency (CACTD) is a rare and life-threatening, autosomal recessive disorder of fatty acid β-oxidation characterized by hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy, liver dysfunction, and muscle weakness; culminating in early death. To date, CACTD cases screened from the Chinese mainland population, especially patient with compound heterozygote with c.199-10T>G and a novel c.1A>G mutation in the SLC25A20 gene has never been described...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29137014/radiological-manifestations-and-surgical-outcome-of-combined-upper-cervical-cord-compression-and-cervical-ossification-of-the-posterior-longitudinal-ligament-with-a-minimum-2-year-follow-up
#17
Hao Li, Xiaopeng Zhou, Gang Chen, Fangcai Li, Junfeng Zhu, Qixin Chen
Combined upper cervical cord compression associated with cervical ossification of the posterior longitudinal ligament (OPLL) is a rare and under-recognized disorder. The aim of this study was to investigate the radiological manifestations and surgical outcome of this combined disease.Between May 2011 and July 2015, patients who underwent surgery for combined upper cervical cord compression and cervical OPLL in our institution were included in this study. After a minimum 2-year follow-up, radiological and clinical data were collected...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29137009/brain-metabolism-in-patients-with-freezing-of-gait-after-hypoxic-ischemic-brain-injury-a-pilot-study
#18
Seo Yeon Yoon, Sang Chul Lee, Na Young Kim, Young-Sil An, Yong Wook Kim
Movement disorders are 1 of the long-term neurological complications that can occur after hypoxic-ischemic brain injury (HIBI). However, freezing of gait (FOG) after HIBI is rare. The aim of this study was to examine the brain metabolism of patients with FOG after HIBI using F-18 fluoro-2-deoxy-D-glucose positron emission tomography (F-18 FDG PET).We consecutively enrolled 11 patients with FOG after HIBI. The patients' overall brain metabolism was measured by F-18 FDG PET, and we compared their regional brain metabolic activity with that from 15 healthy controls using a voxel-by-voxel-based statistical mapping analysis...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29136674/familial-hyperparathyroidism-disorders-of-growth-and-secretion-in-hormone-secretory-tissue
#19
Stephen J Marx, Delmar Muniz Lourenco
Six syndromes of familial hyperparathyroidism are compared: 1) Familial hypocalciuric hypercalcemia (FHH) expresses primary hyperparathyroidism (PHPT) beginning at birth with lifelong hypercalcemia. There is nonsuppressed PTH secretion from outwardly normal parathyroid glands. It reflects germline heterozygous mutation in CASR, GNA11, or AP2S1. 2) Neonatal severe primary hyperparathyroidism is severest of the six syndromes. It requires urgent total parathyroidectomy in infancy. It usually reflects biallelic inactivation of the CASR...
November 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/29136349/clinical-delineation-of-a-subtype-of-frontonasal-dysplasia-with-creased-nasal-ridge-and-upper-limb-anomalies-report-of-six-unrelated-patients
#20
Daphné Lehalle, Umut Altunoglu, Ange-Line Bruel, Eric Arnaud, Patricia Blanchet, Jong-Woo Choi, Julie Désir, Esra Kiliç, Damien Lederer, Lucile Pinson, Christel Thauvin-Robinet, Amihood Singer, Julien Thevenon, Patrick Callier, Hulya Kayserili, Laurence Faivre
Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin...
December 2017: American Journal of Medical Genetics. Part A
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