Clinical features and genetic analysis of two children with Williams-Beuren syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical and genetic characteristics of two children with Williams-Beuren syndrome (WBS).@*METHODS@#Two children who had presented at the Department of Pediatrics, General Hospital of Ningxia Medical University respectively on January 26 and March 18, 2021 were selected as the study subjects. Clinical data and results of genetic testing of the two patients were analyzed.@*RESULTS@#Both children had featured developmental delay, characteristic facies and cardiovascular malformation. Child 1 also had subclinical hypothyroidism, whilst child 2 had occurrence of epilepsy. Genetic testing revealed that child 1 has harbored a 1.54 Mb deletion in the 7q11.23 region, whilst child 2 has a 1.53 Mb deletion in the same region, in addition with a c.158G>A variant of the ATP1A1 gene and a c.12181A>G variant of the KMT2C gene. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.158G>A and c.12181A>G variants were rated as variants of unknown significance (PM1+PM2_Supporting+PP2+PP3；PM2_Supporting).@*CONCLUSION@#Both children had characteristic features of WBS, for which deletions of the 7q11.23 region may be accountable. For children manifesting developmental delay, facial dysmorphism and cardiovascular malformations, the diagnosis of WBS should be suspected, and genetic testing should be recommended to confirm the diagnosis.

Comparative analysis of clinical characteristics of children and adults with brucellosis osteoarthritis in Yinchuan, Ningxia / 中华地方病学杂志

Objective:To investigate the difference of clinical characteristics of children and adults with brucellosis osteoarthritis in Yinchuan, Ningxia.Methods:The clinical data of patients with brucellosis osteoarthritis who were diagnosed in General Hospital of Ningxia Medical University from January 2009 to September 2019 were collected retrospectively. According to age, the patients were divided into two groups: children (0-14 years old, 50 cases) and adults (≥15 years old, 236 cases). Epidemiological characteristics, clinical manifestations and laboratory examination results of the two groups were compared and analyzed.Results:Among children, 39 were males and 11 were females, school age children (8-14 years old, 25 cases) were more common; among adults, 179 were males and 57 were females, middle-aged and elderly people (46-65 years old, 128 cases) were more common. The peak incidence of both groups was from March to August (39 children and 142 adults). In the two groups, a total of 266 patients (40 children and 226 adults) were recorded with a history of exposure, of which 226 patients (28 children and 198 adults) had contacted with cattle, sheep and other live animals. In clinical manifestations, compared with children, adults had higher incidences of low back pain [38.00% (19/50) vs 63.98% (151/236)], hyperhidrosis [6.00% (3/50) vs 30.08% (71/236)] and fatigue [8.00% (4/50) vs 34.75% (82/236)], and lower incidences of single joint pain [70.00% (35/50) vs 19.49% (46/236)], fever [72.00% (36/50) vs 49.15% (116/236)], and lymph node enlargement [30.00% (15/50) vs 2.54% (6/236)], and the differences were statistically significant ( P < 0.05). Among children, the knee joint involvement (62.00%, 31/50) and hip joint involvement (42.00%, 21/50) were more common, but spinal involvement was not found; while among adults, spinal involvement (55.51%, 131/236) was the most common. The incidences of elevated white blood cell count [18.00% (9/50) vs 6.36% (15/236)], elevated percentage of lymphocytes [82.00% (41/50) vs 27.12% (64/236)], elevated platelet [24.00% (12/50) vs 8.90% (21/236)], elevated aspartate aminotransferase [64.00% (32/50) vs 30.08% (71/236)], elevated alanine aminotransferase [38.00% (19/50) vs 20.76% (49/236)] and anemia [42.00% (21/50) vs 16.53% (39/236)] in children were higher than those in adults; the incidences of elevated percentage of neutrophils [0 (0/50) vs 9.75% (23/236)], hypoalbuminemia [2.00% (1/50) vs 14.41% (34/236)], low sodium [2.00% (1/50) vs 10.17% (24/236)], elevated C-reactive protein [50.00% (25/50) vs 77.12% (182/236)] in children were lower than those in adults, and the differences were statistically significant ( P < 0.05). The positive rate of blood culture in children (65.22%, 30/46) was higher than that in adults (40.54%, 60/148), and the difference was statistically significant ( P < 0.05). Conclusions:There are differences in clinical characteristics between children and adults with brucellosis osteoarthritis in Yinchuan, Ningxia. In particular, there is a significant difference between children and adults in the location of bone and joint involvement.