Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia

Objective: Antidepressant-induced mania and an antidepressant discontinuation syndrome are well documented, whereas mania occurring after antidepressant cessation has been infrequently reported. Method: We describe antidepressant discontinuation-related mania in two Chinese patients, as well as a review of the literature on this phenomenon in unipolar depression. Results: A 72-year-old man and a 65-year-old woman had late-onset depression with vascular risk factors, but no personal or family history of mood disorders. Manic symptoms started after stopping escitalopram and venlafaxine during depressive relapse, and resolved with the initiation of olanzapine and valproate. In the literature, 29 episodes of antidepressant discontinuation-related mania were reported. Tricyclic antidepressants were most frequently implicated, followed by selective serotonin reuptake inhibitors. There was spontaneous resolution of manic symptoms in half of the cases. Conclusion: This is the first report of antidepressant discontinuation-related mania in an Asian population, in the setting of late-onset depression. This phenomenon is rare and is amenable to standard treatment.

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Three Novel and One Potential Hotspot CPT1A Variants in Chinese Patients With Carnitine Palmitoyltransferase 1A Deficiency

Frontiers in Pediatrics ◽

10.3389/fped.2021.771922 ◽

2021 ◽

Vol 9 ◽

Author(s):

Weifeng Zhang ◽

Yanru Chen ◽

Chunmei Lin ◽

Weilin Peng ◽

Qingliu Fu ◽

...

Keyword(s):

Chinese Population ◽

Clinical Symptoms ◽

Allelic Frequency ◽

Carnitine Palmitoyltransferase ◽

Chinese Patients ◽

Tandem Mass ◽

Newly Diagnosed ◽

Genetic Characteristics ◽

Mitochondrial Fatty Acid ◽

Novel Variants

Carnitine palmitoyltransferase 1A (CPT1A) deficiency is an inherited disorder of mitochondrial fatty acid β-oxidation that impairs fasting ketogenesis and gluconeogenesis in the liver. Few studies implementing newborn screening (NBS) for CPT1A deficiency in the Chinese population have been reported. This study aimed to determine the biochemical, clinical, and genetic characteristics of patients with CPT1A deficiency in China. A total of 204,777 newborns were screened using tandem mass spectrometry at Quanzhou Maternity and Children's Hospital between January 2017 and December 2018. Newborns with elevated C0 levels were recruited, and suspected patients were subjected to further genetic analysis. Additionally, all Chinese patients genetically diagnosed with CPT1A deficiency were reviewed and included in the study. Among the 204,777 screened newborns, two patients were diagnosed with CPT1A deficiency; thus, the estimated incidence in the selected population was 1:102,388. In addition to the two patients newly diagnosed with CPT1A deficiency, we included in our cohort 10 Chinese patients who were previously diagnosed. Five of these 12 patients were diagnosed via NBS. All patients exhibited elevated C0 and/or C0/(C16+C18) ratios. No clinical symptoms were observed in the five patients diagnosed via NBS, while all seven patients presented with clinical symptoms, including fever, cough, vomiting, diarrhea, and seizures. Eighteen distinct CPT1A variants were identified, 15 of which have been previously reported. The three novel variants were c.272T>C (p.L91P), c.734G>A (p.R245Q), and c.1336G>A (p.G446S). in silico analysis suggested that all three novel variants were potentially pathogenic. The most common variant was c.2201T>C (p.F734S), with an allelic frequency of 16.67% (4/24). Our findings demonstrated that NBS for CPT1A deficiency is beneficial. The three novel variants expand the mutational spectrum of CPT1A in the Chinese population, and c.2201T>C (p.F734S) may be a potential hotspot CPT1A mutation.

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Takayasu arteritis with pyoderma gangrenosum: case reports and literature review

BMC Rheumatology ◽

10.1186/s41927-019-0098-z ◽

2019 ◽

Vol 3 (1) ◽

Cited By ~ 1

Author(s):

Xuehan Zhang ◽

Yang Jiao

Keyword(s):

Pyoderma Gangrenosum ◽

Takayasu Arteritis ◽

Case Reports ◽

Disease Process ◽

Skin Lesions ◽

Clinical Severity ◽

Chinese Patients ◽

Neutrophilic Dermatosis ◽

American College Of Rheumatology ◽

Pubmed Database

Abstract Background Takayasu arteritis is a rare, chronic inflammatory arteriopathy affecting mainly the aorta and its branches. Many skin manifestations have been reported in association with this disease. Pyoderma gangrenosum is a skin complication that is a neutrophilic dermatosis characterized by destructive, necrotizing and noninfective skin infiltration. However, there are no related records on these conditions in Chinese patients. Case presentation We reported two Chinese female patients presenting with pyoderma gangrenosum associated with Takayasu arteritis. Pyoderma gangrenosum preceded Takayasu arteritis in both patients. Their skin lesions were diagnosed as pyoderma gangrenosum through skin biopsy and relieved after treating with steroids and immunosuppressants. During the follow-up, both patients developed symptoms caused by vascular stenosis and occlusion, such as dizziness and weakness of upper limb. The results of aortic angiography revealed multiple large arteries narrowed and blocked. According to the criteria of the American College of Rheumatology, the vasculitis in both patients were classified as Takayasu arteritis. Since there was scant evidence of active inflammation and the skin lesions were stable, neither of them was given strong immnosuppressive therapy. The PubMed database was also searched and 16 related well-documented cases of Takayasu with pyoderma gangrenosum were reviewed and summarized. Conclusions Pyoderma gangrenosum could occur at any stage of the Takayasu arteritis disease process. No correlation was found between the location of the skin lesions and the clinical severity and scope of Takayasu arteritis. It is important to remember the rare possibility of Takayasu arteritis in patients with skin lesions indicative of pyoderma gangrenosum of unknown aetiology. Obtaining the relevant history and regular monitoring of the arteries are necessary.

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