scholarly journals A rare mutation c.1663G>A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

2020 ◽  
Author(s):  
Lili Liang ◽  
Ruixue Shuai ◽  
Yue Yu ◽  
Wenjuan Qiu ◽  
Linghua Shen ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Vitamin B12 ◽  
Disease Onset ◽  
Methylmalonic Acidemia ◽  
Chinese Patients ◽  
Compound Heterozygous ◽  
Causative Gene ◽  
Rare Type ◽  
Wide Range ◽  
Before And After

Abstract Background: Methylmalonic acidemia is an inherited organic acid metabolic disease. it involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.1663G>A (p.A555T), is considered to be of an extremely rare type. So far, little is known about the clinical features of patients carrying this mutation. In the present study, we aimed to define the clinical and biochemical features of the patients with this genotype. Methods: Among 328 mut type methylmalonic acidemia patients from multiple hospitals in China, we collected 30 compound heterozygous patients sharing the mutation c.1663G>A (p.A555T) in the MMUT gene. Their clinical characteristics and biochemical index were described in detail and compared with methylmalonic acidemia patients without this variant. Results: Most of these patients were diagnosed via newborn screening (26/30), treated in a timely manner, and kept healthy (24/30). Disease onset occurred in 7 patients. Developmental delay or intellectual impairment occurred in 4 patients. Vitamin B12 is responsive in 100% of these patients (29/29). The blood propionylcarnitine, blood propionylcarnitine/acetylcarnitine ratio, urinary methylmalonic acid, urinary methylcitric acid before and after treatment in c.1663G>A (p.A555T) carrying patients were much lower than those in non-c.1663G>A (p.A555T) carrying patients. Conclusion: Compared to patients with other mutations in the MMUT gene, patients with the c.1663G>A (p.A555T) mutation showed later onset, milder clinical phenotype, lighter biochemical abnormalities, better vitamin B12 responsiveness, lower morbidity, easier metabolic control, and thereby better prognosis. Newborn screening project plays an important role in early diagnosis, treatment, and prognosis of these patients.

scholarly journals A rare mutation c.1663G>A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

2020 ◽  
Author(s):  
Lili Liang ◽  
Ruixue Shuai ◽  
Yue Yu ◽  
Wenjuan Qiu ◽  
Linghua Shen ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Vitamin B12 ◽  
Disease Onset ◽  
Methylmalonic Acidemia ◽  
Chinese Patients ◽  
Compound Heterozygous ◽  
Causative Gene ◽  
Rare Type ◽  
Wide Range ◽  
Before And After

Abstract Background: Methylmalonic acidemia is an inherited organic acid metabolic disease. it involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.1663G>A (p.A555T), is considered to be of an extremely rare type. So far, little is known about the clinical features of patients carrying this mutation. In the present study, we aimed to define the clinical and biochemical features of the patients with this genotype.Methods: Among 328 mut type methylmalonic acidemia patients from multiple hospitals in China, we collected 30 compound heterozygous patients sharing the mutation c.1663G>A (p.A555T) in the MMUT gene. Their clinical characteristics and biochemical index were described in detail and compared with methylmalonic acidemia patients without this variant. Results: Most of these patients were diagnosed via newborn screening (26/30), treated in a timely manner, and kept healthy (24/30). Disease onset occurred in 7 patients. Developmental delay or intellectual impairment occurred in 4 patients. Vitamin B12 is responsive in 100% of these patients (29/29). The blood propionylcarnitine, blood propionylcarnitine/acetylcarnitine ratio, urinary methylmalonic acid, urinary methylcitric acid before and after treatment in c.1663G>A (p.A555T) carrying patients were much lower than those in non-c.1663G>A (p.A555T) carrying patients.Conclusion: Compared to patients with other mutations in the MMUT gene, patients with the c.1663G>A (p.A555T) mutation showed later onset, milder clinical phenotype, lighter biochemical abnormalities, better vitamin B12 responsiveness, lower morbidity, easier metabolic control, and thereby better prognosis. Newborn screening project plays an important role in early diagnosis, treatment, and prognosis of these patients.

scholarly journals A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Lili Liang ◽  
Ruixue Shuai ◽  
Yue Yu ◽  
Wenjuan Qiu ◽  
Linghua Shen ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Vitamin B12 ◽  
Disease Onset ◽  
Methylmalonic Acidemia ◽  
Chinese Patients ◽  
Compound Heterozygous ◽  
Causative Gene ◽  
Rare Type ◽  
Wide Range ◽  
Before And After

Abstract Background Methylmalonic acidemia is an inherited organic acid metabolic disease. It involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.1663G > A (p.A555T), is considered to be a rare type, which is seen more frequently in Asian than other populations. So far, little is known about the clinical features of patients carrying this mutation. In the present study, we aimed to define the clinical and biochemical features of the patients with this genotype. Methods Among 328 mut type methylmalonic acidemia patients from multiple hospitals in China, we collected 30 compound heterozygous patients sharing the mutation c.1663G > A (p.A555T) in the MMUT gene. Their clinical characteristics and biochemical index were described in detail and compared with methylmalonic acidemia patients without this variant. Results Most of these patients were diagnosed via newborn screening (26/30), treated in a timely manner, and kept healthy (24/30). Disease onset occurred in 7 patients. Developmental delay or intellectual impairment occurred in 4 patients. 100% of these patients (29/29) were responsive to Vitamin B12 administration. The blood propionylcarnitine, blood propionylcarnitine/acetylcarnitine ratio, urinary methylmalonic acid, urinary methylcitric acid before and after treatment in c.1663G > A (p.A555T) carrying patients were much lower than those in non-c.1663G > A (p.A555T) carrying patients. Conclusion Compared to patients with other mutations in the MMUT gene, patients with the c.1663G > A (p.A555T) mutation showed later onset, milder clinical phenotype, lighter biochemical abnormalities, better vitamin B12 responsiveness, lower morbidity, easier metabolic control, and thereby better prognosis. Newborn screening project plays an important role in early diagnosis, treatment, and prognosis of these patients.

scholarly journals A rare mutation c.1663G>A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

2020 ◽  
Author(s):  
Lili Liang ◽  
Ruixue Shuai ◽  
Yue Yu ◽  
Wenjuan Qiu ◽  
Linghua Shen ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Vitamin B12 ◽  
Disease Onset ◽  
Methylmalonic Acidemia ◽  
Chinese Patients ◽  
Causative Gene ◽  
Rare Type ◽  
Rare Mutation ◽  
Wide Range ◽  
Before And After

Abstract Background Methylmalonic acidemia is an inherited organic acid metabolic disease. it involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.1663G > A (p.A555T), is considered to be of an extremely rare type. So far, little is known about the clinical features of patients carrying this mutation. In the present study, we aimed to define the clinical and biochemical features of the patients with this genotype.Methods Among 328 mut type methylmalonic acidemia patients from multiple hospitals in China, we collected 30 patients sharing the mutation c.1663G > A (p.A555T) in the MMUT gene. Their clinical characteristics and biochemical index were described in detail and compared with methylmalonic acidemia patients without this variant.Results Most of these patients were diagnosed via newborn screening (26/30), treated in a timely manner, and kept healthy (24/30). Disease onset occurred in 7 patients. Mental retardation occurred in 4 patients. Vitamin B12 is responsive in 100% of these patients (29/29). The blood propionylcarnitine, blood propionylcarnitine/acetylcarnitine ratio, urinary methylmalonic acid, urinary methylcitric acid before and after treatment in c.1663G > A (p.A555T) carrying patients were much lower than those in non-c.1663G > A (p.A555T) carrying patients.Conclusion Compared to patients with other mutations in the MMUT gene, patients with the c.1663G > A (p.A555T) mutation showed later onset, milder clinical phenotype, lighter biochemical abnormalities, better vitamin B12 responsiveness, lower morbidity, easier metabolic control, and thereby better prognosis. Newborn screening project plays an important role in early diagnosis, treatment, and prognosis of these patients.

scholarly journals Clinical Features and Prognosis in Chinese Patients With Dipeptidyl–Peptidase–Like Protein 6 Antibody–Associated Encephalitis

2022 ◽  
Vol 12 ◽  
Author(s):  
Ailiang Miao ◽  
Yongwei Shi ◽  
Xiaoshan Wang ◽  
Jianqing Ge ◽  
Chuanyong Yu
Keyword(s):  
Neuropsychiatric Symptoms ◽  
Disease Onset ◽  
Brain Magnetic Resonance Imaging ◽  
Dipeptidyl Peptidase ◽  
Chinese Patients ◽  
Normal Brain ◽  
Rare Type ◽  
Epileptiform Discharges ◽  
Psychiatric Disturbances ◽  
Positive Antibody

Objectives:Anti-dipeptidyl–peptidase–like protein 6 (anti-DPPX) encephalitis an extremely rare type of immune-mediated encephalitis. This study aimed to analyze the electroclinical characteristics and prognosis of anti-DPPX encephalitis.Methods:Five patients (all male) with anti-DPPX encephalitis in East China from January 2016 to October 2021 was retrospective analyzed. Electroclinical features and outcomes were reviewed.Results:All five patients were male. The media age at disease onset was 32 years old with a range of 14–56 years. The main symptoms included psychiatric disturbances (2/5), amnesia (4/5), confusion (3/5), and seizures (3/5). Migrating myoclonus were identified in patient 4 with positive DPPX and contactin-associated protein-like 2 antibodies in blood. All of the patients had positive DPPX antibodies in serum. Only one of them had positive antibody in the cerebrospinal fluid. EEG showed diffuse slowing in two patients, but no epileptiform discharges were observed. Eighty percent (4/5) of the patients showed normal brain magnetic resonance imaging. After immunotherapy, improvement of neuropsychiatric symptoms from all of the patients was observed. Over a mean follow-up of 30.8 weeks, all of the patients had marked improvement in the modified Rankin Scale. To date, no tumors were not observed in any patients.Conclusions:Anti-DPPX encephalitis mainly presents as neuropsychiatric symptoms. Cooperation of DPPX antibodies and CASPR2 antibodies might have contributed to the migration of myoclonus in the patient 4. Prompt immunotherapy often results in improvement.

Celiac Disease in Kosovar Albanian Children: Evaluation of Clinical Features and Diagnosis

2020 ◽  
Vol 16 (3) ◽  
pp. 241-247
Author(s):  
Atifete Ramosaj-Morina ◽  
Alije Keka-Sylaj ◽  
Arbana Baloku Zejnullahu ◽  
Lidvana Spahiu ◽  
Virgjina Hasbahta ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Gastrointestinal Symptoms ◽  
Dominant Mode ◽  
Primary School Children ◽  
Cross Sectional ◽  
Classical Form ◽  
Wide Range ◽  
The Mean

Background: Celiac disease is an immune-mediated disorder characterized by variable clinical manifestations, specific antibodies, HLA-DQ2/DQ8 haplotypes, and enteropathy. Objectives: The aim of this study was to present the clinical spectrum and patterns of celiac disease in Kosovar Albanian children. Methods: A cross-sectional retrospective study was performed with Albanian children aged 0-18 years, treated for celiac disease in the Pediatric Clinic, University Clinical Center of Kosovo from 2005 to 2016. Results: During the study period, 63 children were treated for celiac disease. The mean age at diagnosis was 5.5 years (SD ± 3.31). The mean age at celiac disease onset was 3.3 years (SD ± 2.02), while the mean delay from the first symptoms indicative of celiac disease to diagnosis was 2.2 years (SD ± 2.09). More than 70% of the patients were diagnosed in the first 7 years of life, mainly presented with gastrointestinal symptoms, while primary school children and adolescents mostly showed atypical symptoms (p<0.001). The classical form of celiac disease occurred in 78% of the cases. Sixty (95%) patients carried HLA-DQ2.5, DQ2.2 and/or HLA-DQ8 heterodimers, and only three of them tested negative. Conclusions: Kosovo, as the majority of developing countries, is still facing the classical form of celiac disease as the dominant mode of presentation; as a result, most children with other forms of the celiac disease remain undiagnosed. : Physicians should be aware of the wide range of clinical presentations and utilize low testing thresholds in order to prevent potential long-term problems associated with untreated celiac disease.

scholarly journals Multiplexed Genetic Analysis Using an Expanded Genetic Alphabet

2004 ◽  
Vol 50 (11) ◽  
pp. 2019-2027 ◽  
Author(s):  
Scott C Johnson ◽  
David J Marshall ◽  
Gerda Harms ◽  
Christie M Miller ◽  
Christopher B Sherrill ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Cftr Gene ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Genetic Tests ◽  
Wide Range ◽  
Additional Base ◽  
A Prospective Study ◽  
Cystic Fibrosis Transmembrane ◽  
Made In

Abstract Background: All states require some kind of testing for newborns, but the policies are far from standardized. In some states, newborn screening may include genetic tests for a wide range of targets, but the costs and complexities of the newer genetic tests inhibit expansion of newborn screening. We describe the development and technical evaluation of a multiplex platform that may foster increased newborn genetic screening. Methods: MultiCode® PLx involves three major steps: PCR, target-specific extension, and liquid chip decoding. Each step is performed in the same reaction vessel, and the test is completed in ∼3 h. For site-specific labeling and room-temperature decoding, we use an additional base pair constructed from isoguanosine and isocytidine. We used the method to test for mutations within the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The developed test was performed manually and by automated liquid handling. Initially, 225 samples with a range of genotypes were tested retrospectively with the method. A prospective study used samples from &gt;400 newborns. Results: In the retrospective study, 99.1% of samples were correctly genotyped with no incorrect calls made. In the perspective study, 95% of the samples were correctly genotyped for all targets, and there were no incorrect calls. Conclusions: The unique genetic multiplexing platform was successfully able to test for 31 targets within the CFTR gene and provides accurate genotype assignments in a clinical setting.

Perioperative Skin Conditioning for Patients With Skin of Color

2021 ◽  
pp. 074880682198989
Author(s):  
Alix Ferdinand ◽  
Suzan Obagi
Keyword(s):  
Treatment Regimen ◽  
Skin Care ◽  
Practical Approach ◽  
Postoperative Phase ◽  
Upward Trend ◽  
Wide Range ◽  
Before And After

The interest in cosmetic procedures for patients with skin of color is on an upward trend. Globally, dyschromia and hyperpigmentation remain the most common disorders for which patients seek treatment. The goals of a perioperative skin conditioning program include allowing a broad range of patients to be treated regardless of skin phototypes, maximizing results, and reducing risk of complications such as post-inflammatory hyperpigmentation and managing post-inflammatory hyperpigmentation if it occurs. The purpose of this article is to highlight common pigmentation concerns among patients with skin of color, the topical agents used to combat these concerns, and a practical approach to creating an effective yet straightforward topical skin care regimen that can be used across a wide range of patient skin phototypes. Before and after photos of patients with a variety of pigmentation concerns are presented along with a description of the treatment regimen used to improve their conditions and to get their skin to a safer state prior to performing any office-based procedures. By understanding the main concerns of patients with skin of color, one can use a simple and effective skincare regimen to allow these patients to be more safely treated. An effective skincare regimen both prepares the skin prior to procedures and postoperatively to help minimize dyschromias in the postoperative phase.

scholarly journals Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ruixue Zhang ◽  
Rong Qiang ◽  
Chengrong Song ◽  
Xiaoping Ma ◽  
Yan Zhang ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Inborn Errors Of Metabolism ◽  
Northwest China ◽  
Methylmalonic Acidemia ◽  
Shaanxi Province ◽  
Inborn Errors ◽  
Organic Acidurias ◽  
Genetic Characteristics ◽  
Disease Spectrum ◽  
Expanded Newborn Screening

AbstractExpanded newborn screening facilitates early identification and intervention of patients with inborn errors of metabolism (IEMs), There is a lack of disease spectrum data for many areas in China. To determine the disease spectrum and genetic characteristics of IEMs in Xi'an city of Shaanxi province in northwest China, 146152 newborns were screening by MSMS from January 2014 to December 2019 and 61 patients were referred to genetic analysis by next generation sequencing (NGS) and validated by Sanger sequencing. Seventy-five newborns and two mothers were diagnosed with IEMs, with an overall incidence of 1:1898 (1:1949 without mothers). There were 35 newborns with amino acidemias (45.45%, 1:4176), 28 newborns with organic acidurias (36.36%, 1:5220), and 12 newborns and two mothers with FAO disorders (18.18%; 1:10439 or 1:12179 without mothers). Phenylketonuria and methylmalonic acidemia were the two most common disorders, accounting for 65.33% (49/75) of all confirmed newborn. Some hotspot mutations were observed for several IEMs, including PAH gene c.728G>A for phenylketonuria; MMACHC gene c.609G>A and c.567dupT, MMUT gene c.323G>A for methylmalonic acidemia and SLC25A13 gene c.852_855del for citrin deficiency. Our study provides effective clinical guidance for the popularization and application of expanded newborn screening, genetic screening, and genetic counseling of IEMs in this region.

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