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1.
Spontaneous rupture of bladder diverticulum with pseudo renal failure:A case report and literature review.
Zhang, Z, Shen, J, He, Q, Nie, H
The American journal of emergency medicine. 2024;:231.e3-231.e7
Abstract
BACKGROUND Spontaneous or non-traumatic bladder rupture is rare but can be life-threatening. Bladder rupture caused by a diverticulum is extremely rare, with only a few case reports in medical literature. CASE PRESENTATION We report the case of a 32-year-old woman admitted to hospital complaints of abdominal pain, oliguria and ascites with no history of trauma. Laboratory tests revealed an elevated serum urea nitrogen(UN) level of 33.5 mmol/l and an elevated creatinine levels of 528 umol/l. X-ray cystography confirmed the rupture of a bladder diverticulum. Subsequent transurethral catheterization led to a prompt increase in urinary output, and serum creatinine level returned to 40 umol/l within 48 h. The patient was successfully treated with laparoscopic diverticulectomy. CONCLUSION Clinicians should maintain a high level of suspicion for urinary bladder rupture in cases presenting with acute lower abdominal pain, urinary difficulties, and oliguria. When acute renal failure, complicated ascites, and an elevated peritoneal fluid creatinine or potassium level exceeding serum levels are observed, intraperitoneal urine leakage should be suspected without delay. This case emphasizes the importance of early diagnosis and intervention in managing this rare but serious condition.
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2.
A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review.
Zhang, Z, Bie, X, Chen, Z, Liu, J, Xie, Z, Li, X, Xiao, M, Zhang, Q, Zhang, Y, Yang, Y, et al
BMC pediatrics. 2024;(1):104
Abstract
BACKGROUND Mitochondrial diseases are heterogeneous in terms of clinical manifestations and genetic characteristics. The dynamin 1-like gene (DNM1L) encodes dynamin-related protein 1 (DRP1), a member of the GTPases dynamin superfamily responsible for mitochondrial and peroxisomal fission. DNM1L variants can lead to mitochondrial fission dysfunction. CASE PRESENTATION Herein, we report a distinctive clinical phenotype associated with a novel variant of DNM1L and review the relevant literature. A 5-year-old girl presented with paroxysmal hemiplegia, astigmatism, and strabismus. Levocarnitine and coenzyme Q10 supplement showed good efficacy. Based on the patient's clinical data, trio whole-exome sequencing (trio-WES) and mtDNA sequencing were performed to identify the potential causative genes, and Sanger sequencing was used to validate the specific variation in the proband and her family members. The results showed a novel de novo heterozygous nonsense variant in exon 20 of the DNM1L gene, c.2161C>T, p.Gln721Ter, which is predicted to be a pathogenic variant according to the ACMG guidelines. The proband has a previously undescribed clinical manifestation, namely hemiparesis, which may be an additional feature of the growing phenotypic spectrum of DNM1L-related diseases. CONCLUSION Our findings elucidate a novel variant in DNM1L-related disease and reveal an expanding phenotypic spectrum associated with DNM1L variants. This report highlights the necessity of next generation sequencing for early diagnosis of patients, and that further clinical phenotypic and genotypic analysis may help to improve the understanding of DNM1L-related diseases.
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Research on the cascading mechanism of "urban built environment-air pollution-respiratory diseases": a case of Wuhan city.
Zhang, Z, Ding, Y, Guo, R, Wang, Q, Jia, Y
Frontiers in public health. 2024;:1333077
Abstract
BACKGROUND Most existing studies have only investigated the direct effects of the built environment on respiratory diseases. However, there is mounting evidence that the built environment of cities has an indirect influence on public health via influencing air pollution. Exploring the "urban built environment-air pollution-respiratory diseases" cascade mechanism is important for creating a healthy respiratory environment, which is the aim of this study. METHODS The study gathered clinical data from 2015 to 2017 on patients with respiratory diseases from Tongji Hospital in Wuhan. Additionally, daily air pollution levels (sulfur dioxide (SO2), nitrogen dioxide (NO2), particulate matter (PM2.5, PM10), and ozone (O3)), meteorological data (average temperature and relative humidity), and data on urban built environment were gathered. We used Spearman correlation to investigate the connection between air pollution and meteorological variables; distributed lag non-linear model (DLNM) was used to investigate the short-term relationships between respiratory diseases, air pollutants, and meteorological factors; the impacts of spatial heterogeneity in the built environment on air pollution were examined using the multiscale geographically weighted regression model (MGWR). RESULTS During the study period, the mean level of respiratory diseases (average age 54) was 15.97 persons per day, of which 9.519 for males (average age 57) and 6.451 for females (average age 48); the 24 h mean levels of PM10, PM2.5, NO2, SO2 and O3 were 78.056 μg/m3, 71.962 μg/m3, 54.468 μg/m3, 12.898 μg/m3, and 46.904 μg/m3, respectively; highest association was investigated between PM10 and SO2 (r = 0.762, p < 0.01), followed by NO2 and PM2.5 (r = 0.73, p < 0.01), and PM10 and PM2.5 (r = 0.704, p < 0.01). We observed a significant lag effect of NO2 on respiratory diseases, for lag 0 day and lag 1 day, a 10 μg/m3 increase in NO2 concentration corresponded to 1.009% (95% CI: 1.001, 1.017%) and 1.005% (95% CI: 1.001, 1.011%) increase of respiratory diseases. The spatial distribution of NO2 was significantly influenced by high-density urban development (population density, building density, number of shopping service facilities, and construction land, the bandwidth of these four factors are 43), while green space and parks can effectively reduce air pollution (R2 = 0.649). CONCLUSION Previous studies have focused on the effects of air pollution on respiratory diseases and the effects of built environment on air pollution, while this study combines these three aspects and explores the relationship between them. Furthermore, the theory of the "built environment-air pollution-respiratory diseases" cascading mechanism is practically investigated and broken down into specific experimental steps, which has not been found in previous studies. Additionally, we observed a lag effect of NO2 on respiratory diseases and spatial heterogeneity of built environment in the distribution of NO2.
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Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review.
Wu, C, Zhang, Z
Journal of medical genetics. 2024;(5):430-434
Abstract
BACKGROUND Cases of RNF216-related disorder have been reported sporadically. However, the clinical and genetic spectrum of this disorder has not been fully studied. METHODS We identified an individual with a novel causative RNF216 variant in our institution and reviewed all individuals with causative RNF216 variants in previous reports. The clinical and genetic features of all the described individuals were analysed and summarised. RESULTS Twenty-four individuals from 17 families with causative RNF216 variants were identified. The mean age at the onset of neurological symptoms was 29.2 years (range 18-49 years). Ataxia (57%) was the most frequent initial symptoms in individuals under 30 years old, while chorea (63%) was the most frequent initial symptom in individuals over 30 years old. Over 90% of individuals presented with cognitive impairment and hypogonadotropic hypogonadism throughout the disease. White matter lesions (96%) and cerebellar atrophy (92%) were the most common imaging findings. Twenty pathogenic variants in RNF216 were detected. The variants in 12 (71%) families were inherited in a monogenic recessive pattern, whereas the variants in 5 (29%) were inherited in a digenic pattern by acting with variants in other genes. The majority of the RNF216 variants (85%) resulted in amino acid changes or the truncation of the 'RING between RING' (RBR) domain or C-terminal extension. CONCLUSION RNF216-related disorder is an inherited neuroendocrine disease characterised by cerebellar ataxia, chorea, cognitive impairment and hypogonadotropic hypogonadism. Most causative variants in patients with RNF216-related disorder influence the RBR domain or C-terminal extension of RNF216.
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Impaired calcium channel function and pronounced hippocampal atrophy in a schizophrenia patient with cognitive impairment carrying Presenilin-2 Ser130Leu mutation: A case report and literature review.
Zhang, Z, Lin, H, Feng, Z, Xie, H, Liu, P, Shu, Y, Jia, Z, Zhang, S
Schizophrenia research. 2023;:78-80
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Successful treatment with secukinumab of psoriasis-like dermatitis in a patient with holocarboxylase synthetase deficiency.
Liu, H, Wei, R, Yang, Y, Zhang, Z, Yang, Y, Tang, J, Chen, J, Zhang, J, Gu, Y, Yao, Z
The Journal of dermatology. 2023;(3):401-406
Abstract
Holocarboxylase synthetase deficiency (HSD) is a rare autosomal recessive disorder of biotin metabolism. Typical manifestations include irreversible metabolic disorders and erythroderma-like dermatitis. Most patients respond well to biotin supplementation. Psoriasis-like phenotype associated with this disease has been rarely reported in the literature and experiences with the use of biologics in patients with HSD are still lacking. We reported a rare case of recurrent psoriasis-like skin lesions in a 6-year-old child with HSD. The patient did not respond to initial therapy with high-dose oral biotin. Immunofluorescence staining showed an increased number of interleukin (IL)-17A+ cells in his skin lesions. Based on this finding, the patient was successfully treated with human anti-IL-17A monoclonal antibody (secukinumab). He did not report any side effects and remained healthy during the 2-year follow-up. We provide a comprehensive review of the reported cases of HSD with psoriasis-like dermatitis to date. The psoriasis-like phenotype of HSD is controversial in treatment and IL-17A inhibitor is an alternative therapeutic option.
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7.
A case report and literature review of immune checkpoint inhibitor-associated pneumonia caused by penpulimab.
Gao, R, Yang, F, Yang, C, Zhang, Z, Liu, M, Xiang, C, Hu, H, Luo, X, Li, J, Liu, R
Frontiers in immunology. 2023;:1114994
Abstract
OBJECTIVE From the perspective of intensive care physicians, this paper reviews the diagnosis and treatment of CIP patients, analyzes and refines relevant literature on CIP. To summarize the characteristics of diagnosis and treatment of severe CIP provides the basis and reference for early identification, diagnosis and treatment. METHODS A case of severe CIP caused by piamprilizumab and ICI was reviewed and the literature was reviewed. RESULTS This was a patient with lung squamous cell carcinoma with lymphoma who had been treated with multiple chemoradiotherapy and immunotherapy with piamprizumab. The patient was admitted to the ICU with respiratory failure. The intensive care physician performs anti-infective, fluid management, hormonal anti-inflammatory, respiratory and nutritional support treatment, and relies on mNGS to exclude severe infection and CIP treatment, thus successfully saving the patient's life and improving discharge. CONCLUSIONS The incidence of CIP is very low, and its diagnosis should be combined with clinical manifestations and previous drug use. mNGS can provide certain value in the exclusion of severe infections, so as to provide basis and reference for the early identification, diagnosis and treatment of severe CIP.
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8.
Tumor-induced Osteomalacia: A Case Report and Etiological Analysis with Literature Review.
Zhang, Z, Li, J, Zhang, Z, Shao, Z
Orthopaedic surgery. 2023;(12):3342-3352
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Abstract
BACKGROUND Tumor-induced osteomalacia (TIO) belongs to a rare disease of the paraneoplastic syndrome. Phosphate uric mesenchymal tumor (PMT) is the most common cause of TIO, while the possibility of other tumors cannot be excluded. CASE PRESENTATION We present a case of a 36-year-old female patient with systemic skeletal abnormalities. The woman complained of low back pain with mild motor dysfunction for 2 years. Laboratory examination showed abnormalities in markers of bone metabolism, parathyroid hormone (PTH), vitamin D and serum phosphorus. Pooled imaging examination indicated extension abnormalities in the skeletal system and a single lesion in the right femoral head. The lesion of the right femoral was imaging with somatostatin receptor-positive, which was highly suggestive of a single neuroendocrine tumor. CT guided right femoral tumorectomy and bone grafting were performed when medical treatment failed. Postoperative pathological diagnosis was phosphate urinary mesenchymal tumor secreting fibroblast growth factor 23 (FGF23), which accorded with pre-operative expectations. The postoperative symptoms were effectively relieved, and indicators returned to normal. CONCLUSION The tumors causing TIO exhibited significant heterogeneity in terms of tissue origin, pathological characteristics and biological behavior, but the unique common characteristic is the secretion of FGF23. With significant progress in diagnosis and treatment, the clinical follow-up of most TIO patients shows a good prognosis, but the prognosis of those with malignant tumors is relatively poor.
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A case report of epileptic seizures caused by Rosai Dorfman disease followed by a literature review.
Zhang, Z, Zhang, A, Zhang, T, Zhao, Z
Medicine. 2022;(52):e32553
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Abstract
RATIONALE Rosai Dorfman disease is a rare benign histiocytoproliferative disorder that occurs in the intracranial area, which occurrs typically in lymph nodes. Extrapnodal Rosai Dorfman disease rarely develops in the central nervous system and is often a focal lesion based on the dura. Based on imaging and clinical symptoms, RDD may be misdiagnosed as meningioma, and some lesions can also occur in the brain parenchyma. In the case of benign disease, the final diagnosis is made by pathological tissue diagnosis. For chronic diseases, progression may be chronic or remitting and relapsing. PATIENT CONCERNS A 54-years-old man was hospitalized after experiencing paroxic convulsions and being unconsciousness. A head magnetic resonance imaging demonstrates a strip of lesions in the right parietal lobe. No obvious abnormality is found in the laboratory data. DIAGNOSES We diagnosed meningioma of right parietal lobe and secondary epilepsy, and prescribed oral sodium valproate to treat him. INTERVENTIONS The lesion is located in the right parietal lobe on neuroimaging prior to surgery, which was taken for immunohistochemical examination. OUTCOMES If it is found that immunohistochemistry reveals histiocytes are positive for CD68, S-100, but negative for CD1a, it is identified as RDD. For patients who are seizure-free following surgery, symptomatic management is used. Following parietal lesion resection, patients are seizure-free during the follow-up period (44 months). LESSONS Basing on studying and summarizing relevant literatures, RDD is described in the report in terms of its diagnosis, pathology, treatment, and clinical outcome, in order to improve the diagnosis and identification of intracranial RDD by physicians.
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Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutation: A Two-Case Report and Literature Review.
Liang, D, Liang, S, Zhang, M, Gao, E, Zhang, Z, Jin, Y, Xu, F, Zeng, C
Nephron. 2019;(4):282-287
Abstract
Autosomal dominant tubulointerstitial kidney disease due to UMOD (encoding uromodulin) mutation (ADTKD-UMOD) is a rare hereditary disease. In the present study, we reported 2 ADTKD cases with confirmed UMOD mutations (Arg185His, Trp258Gly) by gene testing. They were young men and presented with hyperuricemia and renal dysfunction with no hematuria or proteinuria. Renal histology showed chronic tubulointerstitial nephropathy with fibrillar inclusions in the cells of distal tubules. Electron microscopy illustrated extensive bundled and cystic endoplasmic reticulum. Immunohistological analysis confirmed intracytoplasmic aggregates of uromodulin in the distal tubules. Since ADTKD-UMOD is an underdiagnosed disease, electron microscopy and immunohistochemical staining for uromodulin are helpful in the diagnosis of ADTKD-UMOD and genetic analysis is the gold standard.