Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients

2020 ◽  
Vol 33 (6) ◽  
pp. 793-802 ◽  
Author(s):  
Weijing Kong ◽  
Yan Meng ◽  
Liping Zou ◽  
Guang Yang ◽  
Jing Wang ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Autosomal Recessive ◽  
Mainland China ◽  
Clinical Manifestations ◽  
Hereditary Disease ◽  
Molecular Characteristics ◽  
Speech Delay ◽  
Initial Symptoms ◽  
Mps Iii ◽  
Mps Iiia

AbstractObjectivesSanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare autosomal recessive hereditary disease, which is caused by lysosomal enzyme deficiency. This study was operated to investigate clinical and molecular characteristics of patients with MPS III, which will improve the diagnosis and treatment of MPS III.MethodThirty four patients with MPS III were assessed using clinical evaluation, questionnaire, and scoring system.ResultsAmong the 34 patients, 14 had MPS IIIA, 19 had MPS III B, and one had MPS III C. Speech delay (100%) and intellectual disability (100%) were the most prevalent clinical manifestations in this cohort, followed by hyperactivity (94.12%), hirsutism (91.18%), enlarged head circumference (73.52%), repeated diarrhea (67.64%), sparse teeth (67.64%), and Mongolian spots (64.71%). There were two clinical manifestations that were significantly different between IIIA and IIIB: Hepatosplenomegaly and serrated teeth. The most common initial symptoms at diagnosis were speech delay (52.94%), hyperactivity (35.29%), and mental retardation (29.41%). Genetic analysis of 25 patients was conducted, which identified 12 novel mutations.ConclusionWhen language retardation, mental retardation, and rough facial features occurred, MPS III should be considered. At same time, more examination should be operated, such as examination of changes in cranial magnetic resonance imaging of cerebral cortex atrophy. Hepatosplenomegaly and serrated teeth could be used clinically to preliminarily distinguish IIIA from IIIB.

Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey

2019 ◽  
Vol 32 (7) ◽  
pp. 675-681
Author(s):  
Pelin Teke Kisa ◽  
Melis Kose ◽  
Ozlem Unal ◽  
Esra Er ◽  
Burcu Ozturk Hismi ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Autosomal Recessive ◽  
Screening Program ◽  
Clinical Manifestations ◽  
Geographical Location ◽  
Molecular Characteristics ◽  
Phenotype Correlation ◽  
Classical Galactosemia ◽  
Pathogenic Variants ◽  
Turkish Patients

Abstract Classical galactosemia is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in the GALT gene. With the benefit of early diagnosis by newborn screening, the acute presentation of galactosemia can be prevented. In this study, we describe the clinical phenotypes, time of diagnosis and GALT genotypes of 76 galactosemia patients from Turkey, where the disease is not yet included in the newborn screening program. The median age at first symptom was 10 days (range 5–20), while the median age at diagnosis was 30 days (range 17–53). Nearly half of the patients (36 patients, 47.4%) were diagnosed later than age 1 month. Fifty-eight individuals were found to have 18 different pathogenic variants in their 116 mutant alleles. In our sample, Q188R variant has the highest frequency with 53%, the other half of the allele frequency of the patients showed 17 different genotypes. Despite presenting with typical clinical manifestations, classical galactosemia patients are diagnosed late in Turkey. Due to the geographical location of our country, different pathogenic GALT variants may be seen in Turkish patients. In the present study, a clear genotype-phenotype correlation could not be established in patients.

scholarly journals Non-O1/non-O139 Vibrio cholerae bacteraemia in mainland China from 2005 to 2019: clinical, epidemiological and genetic characteristics

2020 ◽  
Vol 148 ◽  
Author(s):  
Xinyao Li ◽  
Yuanyuan Wu ◽  
Xiaojun Sun ◽  
Jianping Ma ◽  
Xiaofeng Li ◽  
...  
Keyword(s):  
Vibrio Cholerae ◽  
Antimicrobial Agents ◽  
Clinical Epidemiology ◽  
Yangtze River Basin ◽  
Mainland China ◽  
Clinical Manifestations ◽  
Molecular Characteristics ◽  
Malignant Tumours ◽  
Genetic Characteristics ◽  
Genetic Features

Abstract In mainland China, the clinical, epidemiological and genetic features of non-O1/non-O139 Vibrio cholerae (NOVC) bacteraemia have been scarcely investigated. Herein, we describe a patient with NOVC bacteraemia diagnosed in our hospital and present a retrospective analysis of literature reports of 32 other cases in China, detailing the clinical epidemiology, antibiotic resistance and molecular characteristics of isolates. Most patients were male (84.8%; median age, 53 years) and had predisposing factors, such as cirrhosis, malignant tumours, blood diseases and diabetes. In addition to fever, gastroenteritis was the most frequent presenting symptom. The mortality rate during hospitalisation was 12.1%. NOVC bacteraemia cases were more common in June–August, with the majority in coastal provinces and the Yangtze River basin. Only 42.4% of cases were attributed to consumption of marine (aquatic) products. Tetracycline, third-generation cephalosporins, and fluoroquinolones were the most effective antimicrobial agents, and the highest frequencies of resistance were recorded for ampicillin/sulbactam (37.5%), amoxicillin/clavulanic acid (33.3%), ampicillin (29.2%) and sulfamethoxazole (20%). Multi-drug resistant isolates were not detected. Limited data indicate that ctxAB and tcpA genes were absent in all NOVC isolates but other putative virulence genes (hlyA, toxR, hap and rtxA) were common. Ten multilocus sequence types were identified with marked genetic heterogeneity between different isolates. As clinical manifestations of NOVC bacteraemia may vary widely, and isolates exhibit genetic diversity, clinicians and public health experts should be alerted to the possibility of infection with this pathogen because of the high prevalence of liver disease in China.

Clinical and molecular cytogenetic characterization of two cases of inverted duplication deletion 8p

2020 ◽  
pp. 41-42
Author(s):  
Д.А. Юрченко ◽  
М.Е. Миньженкова ◽  
Е.Л. Дадали ◽  
Н.В. Шилова
Keyword(s):  
Mental Retardation ◽  
Congenital Heart ◽  
Heart Defects ◽  
Clinical Manifestations ◽  
Formation Mechanisms ◽  
Agenesis Of Corpus Callosum ◽  
Molecular Cytogenetic ◽  
Inverted Duplication ◽  
Cytogenetic Characterization

Синдром инвертированной дупликации короткого плеча хромосомы 8 со смежной терминальной делециенй (inv dup del(8p), ORPHA 96092) - редкая хромосомная аномалия (ХА) с частотой 1/10000-1/30000 живорожденных. В статье представлены клинические и молекулярно-цитогенетические характеристики двух неродственных пациентов с синдромом inv dup del(8p) и уточнены механизмы формирования хромосомного дисбаланса. Inverted duplication deletion 8p syndrome (inv dup del(8p), ORPHA 96092) is a rare chromosomal abnormality with a frequency of 1:10,000 - 30,000 newborns. Clinical manifestations of this syndrome include mental retardation, facial anomalies, hypoplasia/agenesis of corpus callosum, scoliosis and/or kyphosis, hypotonia, congenital heart defects. The article presents the clinical and molecular cytogenetic characteristics of two patients with inv dup del (8p) syndrome and clarifies the formation mechanisms.

Papillon-Lefevre Syndrome: Challenge for Periodontal Management

2019 ◽  
Vol 3 (2) ◽  
pp. 84-86
Author(s):  
Krishna Prasad Lamichhane ◽  
Shaili Pradhan ◽  
Ranjita Shreshta Gorkhali ◽  
Pramod Kumar Koirala
Keyword(s):  
Significant Role ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Genetic Mutations ◽  
Rare Autosomal Recessive Disorder ◽  
Diagnosis And Management ◽  
Periodontal Destruction ◽  
Palmoplantar Keratosis

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder associated with rapidly progressing periodontitis leading to premature loss of deciduous and permanent dentition and diffuse palmoplantar keratosis. Immunologic alterations, genetic mutations, and role of bacteria are some aetiologic factors. Patients present with early periodontal destruction, so periodontists play a significant role in diagnosis and management. This paper reports a case of Papillon- Lefevre syndrome with its clinical manifestations and challenges for periodontal management which was diagnosed in dental department.

scholarly journals Animal Models of Autosomal Recessive Parkinsonism

Biomedicines ◽  
2021 ◽  
Vol 9 (7) ◽  
pp. 812
Author(s):  
Guendalina Bastioli ◽  
Maria Regoni ◽  
Federico Cazzaniga ◽  
Chiara Maria Giulia De Luca ◽  
Edoardo Bistaffa ◽  
...  
Keyword(s):  
Animal Models ◽  
Sleep Disturbances ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Cognitive Disorders ◽  
Dopamine Neurons ◽  
Substantia Nigra Pars Compacta ◽  
Current Status ◽  
Unknown Etiology ◽  
Neuron Death

Parkinson’s disease (PD) is the most common neurodegenerative movement disorder. The neuropathological hallmark of the disease is the loss of dopamine neurons of the substantia nigra pars compacta. The clinical manifestations of PD are bradykinesia, rigidity, resting tremors and postural instability. PD patients often display non-motor symptoms such as depression, anxiety, weakness, sleep disturbances and cognitive disorders. Although, in 90% of cases, PD has a sporadic onset of unknown etiology, highly penetrant rare genetic mutations in many genes have been linked with typical familial PD. Understanding the mechanisms behind the DA neuron death in these Mendelian forms may help to illuminate the pathogenesis of DA neuron degeneration in the more common forms of PD. A key step in the identification of the molecular pathways underlying DA neuron death, and in the development of therapeutic strategies, is the creation and characterization of animal models that faithfully recapitulate the human disease. In this review, we outline the current status of PD modeling using mouse, rat and non-mammalian models, focusing on animal models for autosomal recessive PD.

scholarly journals SAT0651-HPR BARRIERS IN DIAGNOSING RHEUMATOID ARTHRITIS – A FOCUS GROUP STUDY ON THE GENERAL PRACTITIONERS’ PERSPECTIVES

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1284.1-1285
Author(s):  
A. S. Lundberg ◽  
B. A. Esbensen ◽  
E. M. Hauge ◽  
A. De Thurah
Keyword(s):  
Rheumatoid Arthritis ◽  
General Practice ◽  
Focus Group ◽  
General Practitioners ◽  
Clinical Picture ◽  
Clinical Manifestations ◽  
University Hospital ◽  
Text Book ◽  
Clear Cut ◽  
Initial Symptoms

Background:Early treatment, before three months from symptom onset of rheumatoid arthritis (RA), is essential to increase the likelihood of remission and to prevent permanent joint damage (1). However, it has been shown that only 20% of the patients are seen within the first three months, and the median delay in general practice has been estimated to 4 months (range 2–9) (2).Objectives:To explore the barriers in diagnosing RA from the general practitioners’ (GPs) perspective.Methods:We conducted a qualitative study based on focus group interviews. We recorded the interviews digitally and transcribed verbatim. The transcribed interviews were analyzed based on content analysis (3), by using Nivo 12. Sample size was determined by thematic saturation.Results:In total ten GPs participated in three different focus groups. 40 % were female, mean age was 53 years (range 37-64), and mean year since specialist authorization as GP was 16 years (range 5-23). 60 % of the GPs worked in a practice located within the referral area of a university hospital; the remaining within the referral area of a regional hospital.Four themes emerged in the analysis: 1) When the patient is not a text book example, referring to the difficulty of identifying relevant symptoms among all clinical manifestations from the joints as described by the patients, 2)The importance of maintaining the gatekeeper function, referring to the societal perspective, and the GPs responsibility to refer the right patients to secondary care, 3)Difficulties in referral of patients to the rheumatologist,referring to perceived differences in the collaboration with rheumatologists. The GPs experienced that it was sometimes difficult to be assisted by rheumatologists, especially when the clinical picture was not ‘clear cut’. Finally, (4)Para-clinical testing, can it be trusted?referring to challenges on the evaluation of especially biomarkers.The overarching theme was:Like finding a needle in a haystack, covering the GPs difficulties in detecting RA among the many patients in general practice who appear to be well and at the same time have symptoms very similar to RA.Conclusion:The GPs experienced that RA was a difficult diagnosis to make. The immediate challenge was that RA patient’s initial symptoms often resembled those of more common and less serious conditions, and that investigative findings such as biomarkers can be negative at the early state of the disease. At the same time, the collaboration with rheumatologists was sometimes seen as a hurdle, when the clinical picture was not ‘clear cut’.In order to facilitate earlier diagnosis of RA in general practice, the GPs and rheumatologists need to focus on these barriers by strengthening mutual information and collaboration.Physicians should remain vigilant to patients who have conditions that do not resolve as expected with treatment, who have symptoms that persist, or who do not look well despite negative investigative findings.References:[1]Aletaha D, et al. JAMA, Oct 2018.[2]Kiely P, et al. Rheumatology, Jan 2009.[3]Braun V. Qualitative research in psychology. 2006, 3(2), 77-101Disclosure of Interests:Anne Sofie Lundberg: None declared, Bente Appel Esbensen: None declared, Ellen-Margrethe Hauge Speakers bureau: Fees for speaking/consulting: MSD, AbbVie, UCB and Sobi; research funding to Aarhus University Hospital: Roche and Novartis (not related to the submitted work)., Annette de Thurah Grant/research support from: Novartis (not relevant for the present study)., Speakers bureau: Lily (not relevant for the present study).

scholarly journals Molecular characteristics and virulence gene profiles of Staphylococcus aureus isolates in Hainan, China

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Xuehan Li ◽  
Tao Huang ◽  
Kai Xu ◽  
Chenglin Li ◽  
Yirong Li
Keyword(s):  
Staphylococcus Aureus ◽  
Antibiotic Resistance ◽  
Resistance Genes ◽  
Virulence Genes ◽  
Mainland China ◽  
Geographical Location ◽  
Antibiotic Resistance Genes ◽  
Virulence Gene ◽  
Molecular Characteristics ◽  
Staphylococcal Protein A

Abstract Background There have been no reports regarding the molecular characteristics, virulence features, and antibiotic resistance profiles of Staphylococcus aureus (S. aureus) from Hainan, the southernmost province of China. Methods Two hundred twenty-seven S. aureus isolates, consisting of 76 methicillin-resistant S. aureus (MRSA) and 151 methicillin-susceptible S. aureus (MSSA), were collected in 2013–2014 and 2018–2019 in Hainan, and investigated for their molecular characteristics, virulence genes, antibiotic resistance profiles and main antibiotic resistance genes. Results Forty sequence types (STs) including three new STs (ST5489, ST5492 and ST5493), and 79 Staphylococcal protein A (spa) types were identified based on multilocus sequence typing (MLST) and spa typing, respectively. ST398 (14.1%, 32/227) was found to be the most prevalent, and the prevalence of ST398-MSSA increased significantly from 2013 to 2014 (5.5%, 5/91) to 2018–2019 (18.4%, 25/136). Seventy-six MRSA isolates were subject to staphylococcus chromosomal cassette mec (SCCmec) typing. SCCmec-IVa was the predominant SCCmec type, and specifically, ST45-SCCmec IVa, an infrequent type in mainland China, was predominant in S. aureus from Hainan. The antibiotic resistance profiles and antibiotic resistance genes of S. aureus show distinctive features in Hainan. The resistant rates of the MRSA isolates to a variety of antibiotics were significantly higher than those of the MSSA isolates. The predominant erythromycin and tetracycline resistance genes were ermC (90.1%, 100/111) and tetK (91.8%, 78/85), respectively. Eleven virulence genes, including the Panton-Valentine leukocidin (pvl) and eta, were determined, and the frequency of eta and pvl were found to be 57.3 and 47.6%. Such high prevalence has never been seen in mainland China before. Conclusion S. aureus isolates in Hainan have unique molecular characteristics, virulence gene and antibiotic resistance profiles, and main antibiotic resistance genes which may be associated with the special geographical location of Hainan and local trends in antibiotic use.

Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

Neurogenetics ◽  
2011 ◽  
Vol 12 (3) ◽  
pp. 247-251 ◽  
Author(s):  
Shoaib ur Rehman ◽  
Shahid Mahmood Baig ◽  
Hans Eiberg ◽  
Sijad ur Rehman ◽  
Ilyas Ahmad ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Autosomal Recessive ◽  
Pakistani Family ◽  
Autozygosity Mapping

Zinc and Acrodermatitis Enteropathica

1980 ◽  
Vol 2 (3) ◽  
pp. 88-94
Keyword(s):  
Zinc Deficiency ◽  
Autosomal Recessive ◽  
Acid Metabolism ◽  
Autosomal Recessive Disease ◽  
Dna Polymerases ◽  
Clinical Manifestations ◽  
Acrodermatitis Enteropathica ◽  
Nucleic Acid Metabolism ◽  
Zinc Metalloenzymes ◽  
Rna And Dna

Mammalian zinc metalloenzymes include alkaline phosphatase. Zinc plays a crucial role in nucleic acid metabolism. RNA and DNA polymerases and thymidine kinase are zinc-dependent enzymes. Zinc deficiency in North America is most clearly seen in the disease acrodermatitis enteropathica. This is an autosomal recessive disease due to a zinc metabolic error—not well defined—which leads to zinc deficiency. Clinical manifestations include a rash around orifices, alopecia, and diarrhea. The laboratory can demonstrate hypozincemia and hypozincuria. Clinical and biochemical remission occurs with oral zinc administration.(R.H.R.)

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