ObjectiveTo analyze the clinical characteristics and epidemiological characteristics of patients with coronavirus disease 2019 treated early in Jiangxi province.MethodsFour-night patients with coronavirus disease 2019 treated in this hospital from January 21st to 27th, 2020 were included in this study. The epidemiological and clinical data of patients after admission were collected, and laboratory tests such as blood routine, urine routine, stool routine, liver and kidney function, electrolytes, myocardial enzymes, erythrocyte sedimentation (ESR), C-reactive protein (CRP), calcitonin, coagulation, T cell subset and Chest CT were reviewed. The clinical results of common and severe/critically ill patients were compared.ResultsOf the 49 patients, 40 were common and 9 were severe/critical. Fourty-six patients had a clear history of contact with Wuhan or other areas of Hubei. The sex ratio was 2.06∶1, and the average age was 42.9 years. The symptoms were mainly fever (78.7%), cough (38.8%), and fatigue (18.4%). 28.6% (14 cases) of patients had hypertension and diabetes. Serum lymphocyte count and calcium concentration of the patients were decreased, but lactate dehydrogenase, ESR, CRP and serum amyloid A were increased in these patients. T lymphocyte subsets (CD3+, CD4+, CD8+) decreased significantly in these patients. Forty-seven patients (95.9%) had single or scattered patchy ground glass density shadows on the chest CT. Compared with common patients, the patients with severe/critical patients were older (P=0.023), hospitalized later (P=0.002), and had higher comorbidities (P=0.017). ESR (P=0.001）, CRP (P=0.010) and the serum amyloid A (P=0.040) increased significantly, while CD3+ (P<0.001), CD4+ (P=0.012), CD8+ (P=0.006) decreased significantly in severe/critical patients.ConclusionsThe patients with coronavirus disease 2019 in Jiangxi province are commonly imported from Wuhan. Severe/critical patients are older, hospitalized later, and have more medical complications and more severe systemic inflammatory reactions than common patients.
Objective To observe the clinical characteristics and influencing factors of post-stroke epilepsy. Methods Our research wasaretrospective study, the data came from the information of patients diagnosed with post-stroke epilepsy from our hospital on October 2000 to December 2014 withatotal of 160 cases. With the general collection of clinical data, including gender, past history, clinical manifestations, laboratory examinations and treatment informations. Results The shortest time of post-stroke seizures were occur immediately, the longest was 15 years after the stroke. Peak onset is as early as onset of stroke immediately, late-onset seizures after stroke peaks between 6 months to 1.5 years. 59 patients occurred early epileptic seizures, partial seizures were the most common, accounting for 47.46%; 101 patients occurred late epilepsy, generalized tonic-clonic seizures were the most common, accounting for 56.44%. 25% of patients wereasingle-site lesions, the most common site was temporal lobe; 75% of patients were multifocal lesions. Most were located in the temporal lobe, frontal lobe and the basal ganglia. 42 cases of patients performed EEG, 30 patients (71.43%) of the EEG abnormalities, including 22 cases (73.33%) recurrent epileptic seizures; 12 cases (28.57%) patients with an edge or normal EEG, including 3 cases (25%) relapsed. 54.38% patients with drug therapy to single-agent therapy, two patients with refractory epilepsy to be combination therapy. Conclusions This group of post stroke epilepsy patients were more common as late-onset epilepsy, early onset of stroke peaks is the first day, and delayed the onset of the peak after stroke is within 6 months to 18 months. Lesions in the cortex:alarge area and multiple lesions were risk factors for post-stroke epilepsy, cortical damage to the temporal lobe is most prevalent. 71.43% of patients may have abnormal EEG, EEG abnormalities have higher relapse rate in patients with epilepsy.
Pleuropulmonary blastoma (PPB) is a kind of rare malignancy which often occurs in children and is related to dysplasia. It always involves in pleura and lung. PPB is misdiagnosed easily because of its special pathophysiological characters and complex biological behavior. Early detection and correct treatment are very important for thoracic surgeon to cure PPB. This paper reviews the advance of pathophysiological characters, molecular genetic characters, clinical manifestation, clinical diagnosis and differential diagnosis, and treatment and prognosis of PPB.
ObjectiveTo improve the understanding of pulmonary alveolar microlithiasis (PAM).MethodsA male patient and his brother were considered PAM by chest image and further examined by gene sequencing. The patient was confirmed through percutaneous lung biopsy. The clinical data of 172 patients from 108 pieces of literature were collected and reviewed from PubMed. The clinical presentation, radiological character, pathological finding, diagnosis and differential diagnosis, treatment and prognosis of the disease were analyzed and summarized.ResultsThe results of gene sequencing revealed the homozygous mutation of c.910A>T in exon 8 of SLC34A2 gene. The genetic mutation encoding the sodium phosphate co-transporter Npt2b (SLC34A2) was considered as the major pathogenesis. Mutations appeared to cluster in exon 8, c.910A>T was the most common mutation observed in Chinese cases. The most obvious symptoms were dyspnea, followed by cough, chest pain, fever, fatigue, and hemoptysis. The clinical signs consisted of cyanosis, clubbed fingers, moist rales and velcro crackles in the lungs. The typical presentation of PAM on a chest X ray was a ‘sandstorm’ appearance. The most frequent high-resolution CT findings of PAM were diffuse ground-glass attenuation and subpleural linear calcifications. Lung biopsy showed lamellar microliths deposited in alveolar spaces and the pleura. Etidronate had an imprecise role in the treatment of PAM. Lung transplantation was the ultimate effective treatment option.ConclusionsPAM is a rare autosomal recessive inherited lung disease. The characteristics of the disease should be fully understood in order to achieve early diagnosis and early intervention. Lung transplantation is recommended for patients of end stage.
ObjectiveTo identify and observe the pathogenic genes and clinical phenotypes of a family with a special platelet phenotype, Hermansky-Pudlak syndrome type 6 (HSP6). MethodsA retrospective clinical study. In November 2019, one proband and three family members from six HSP families who visited Henan Eye Hospital were included in the study. The child's medical history and family history were inquired in detail. The proband and all family members underwent best corrected visual acuity (BCVA), fundus color photography, frequency-domain optical coherence tomography, and general physical examination. The proband underwent platelet transmission electron microscopy (PTEM) and colonoscopy. Peripheral venous blood was collected from the proband, her parents and younger brother, and genomic DNA was extracted. Whole exome sequencing (WES) was used to screen pathogenic genes and their loci. Bioinformatics analysis determines the pathogenicity of gene variation sites. Fluorescence quantitative polymerase chain reaction (RT-qPCR) and Western blot were used to verify the related variations. ResultsThe proband (Ⅱ-1) was a 7-year-old female. The BCVA in both eyes was 0.1, who exhibited mild horizontal nystagmus and iris depigmentation. Fundus examination revealed obvious depigmentation and an underdeveloped fovea centralis. At the age of 7, the patient underwent colonoscopy due to acute gastrointestinal bleeding. A polyp approximately 5 mm in size was found on the floor of the sigmoid colon, with erosion and mucosal leukoplakia on its surface. PTEM showed that the number of platelet dense granules was normal, but the nuclei were small or exhibited low compactness. The skin on both lower legs showed pigmentation. The clinical phenotypes of the proband’s parents (Ⅰ-1, Ⅰ-2) and younger brother (Ⅱ-2) showed no obvious abnormalities. WES revealed that the proband carried compound heterozygous variants in exon 1 of the HPS6 gene: c.60_64dup (p.L22fs) (M1) and c.1147_1148del (p.L383fs) (M2). The mother carried the M1 variant, while the father and younger brother carried the M2 variant. Bioinformatics analysis predicted that both variants were pathogenic. RT-qPCR results showed that, compared with the relative expression level of HPS6wt mRNA, the relative expression levels of HPS6L22fs and HPS6L383fs mRNA were significantly decreased (t = 3.549, 4.560; P＜0.05). Western blot analysis demonstrated that the HPS6L383fs protein was truncated, whereas the HPS6L22fs protein was not detected. ConclusionsThis family is a special HPS6 with a normal number of dense platelet granules. The compound heterozygous variations of M1 and M2 in the HPS6 gene are pathogenic genes in this family.