Longitudinal Development of Verbal and Nonverbal Intelligence After Cochlear Implantation According to Wechsler Tests in German-speaking Children: A Preliminary Study.

OBJECTIVES: Intelligence as a construct of cognitive abilities is the basis of knowledge and skill acquisition and the main predictor of academic achievement. As a broad construct, it is usually divided into subdomains, such as nonverbal and verbal intelligence. Verbal intelligence is one domain of intelligence but is not synonymous with specific linguistic abilities like grammar proficiency. We aim to address the general expectation that early cochlear implantation enables children who are hard of hearing to develop comprehensively, including with respect to verbal intelligence. The primary purpose of this study is to trace the longitudinal development of verbal and nonverbal intelligence in children with cochlear implants (CIs). DESIGN: Sixteen children with congenital hearing loss who received unilateral or bilateral implants and completed at least two intelligence assessments around the age of school entrance were included in the study. The first assessment was performed around 3 years after CI fitting (chronological age range: 3.93 to 7.03 years). The second assessment was performed approximately 2 years after the first assessment. To analyze verbal and nonverbal IQ in conjunction and across children at different ages, we used corresponding standardized and normalized tests from the same test family (Wechsler Preschool and Primary Scale of Intelligence and/or Wechsler Intelligence Scale for Children). RESULTS: Regarding longitudinal development, both verbal and nonverbal IQ increased, but verbal IQ increased more substantially over time. At the time of the second measurement, verbal and nonverbal IQ were on a comparable level. Nevertheless, we also observed strong inter-individual differences. The duration between both assessments was significantly associated with verbal IQ at the second measurement time point and thus with verbal IQ gain over time. Education mode (regular vs. special kindergarten/school) was significantly correlated with nonverbal IQ at the second assessment time point. CONCLUSIONS: The results, despite the small sample size, clearly suggest that children with CIs can achieve intellectual abilities comparable to those of their normal-hearing peers by around the third year after initial CI fitting, and they continue to improve over the following 2 years. We recommend further research focusing on verbal IQ assessed around the age of school entrance to be used as a predictor for further development and for the establishment of an individual educational program.

Primary hepatic paraganglioma mimicking hepatocellular carcinoma: a case report.

Background: Primary hepatic paraganglioma (HPGL) originates from sympathetic nervous tissue in the liver. It is one of an exceedingly rare kind of sympathetic paragangliomas. The radiological features and clinical characters of HPGL can be easily confused with hepatocellular carcinoma (HCC). We present a case of HCC that was preoperatively diagnosed as hepatic paraganglioma, however, was pathologically verified as hepatic paraganglioma after surgery. Case Description: The present case reported a 47-year-old female with a very rare HPGL without any clinical symptoms, except for hyper menorrhagia and paroxysmal hypertension. The Spiegelman lobe of the liver underwent hepatic magnetic resonance imaging, which revealed a 3.2×3.8 cm mass, with uneven arterial phase wash-in and rapid portal and delayed phase wash-out. According to the imaging results, the patient was first diagnosed with hepatocellular carcinoma, and a radical hepatectomy was performed. However, the blood pressure of the patient displayed dramatic changes when the tumor was stimulated in operation. There were no substantial abnormalities found in the bilateral renal and adrenal glands. Therefore, we presumed that the tumor was related to functional pheochromocytoma. The tumor tissue was shown to be positive for chromogranin A, synaptophysin, CD56, and vimentin by immunohistochemical analysis. As a result, the patient was diagnosed with HPGL after this pathologic evaluation. Conclusions: There are several similarities between HPGL and HCC. For the treatment of hepatic paraganglioma, surgical excision is the recommended practice. Although the majority of paragangliomas are benign, long-term monitoring is required to differentiate benign from malignant paragangliomas.

Tauroursodeoxycholic acid inhibits TGF-ß1-induced renal fibrosis markers in cultured renal mesangial cells by regulating endoplasmic reticulum stress.

Chronic kidney disease (CKD) has a worldwide prevalence of higher than 10% with an increasing mortality rate. As it involves the deterioration of renal function, it represents a serious risk to human health and, if left untreated, significantly lowers the quality of the patient's life. CKD is characterized by renal fibrosis. Studies have shown that transforming growth factor ß1 (TGF-ß1), a key driving factor of renal fibrosis, is closely related to the activation of renal fibrosis pathways such as endoplasmic reticulum stress (ERS). Tauroursodeoxycholic acid (TUDCA), an endogenous bile acid derivative, can effectively inhibit endogenous ERS. Here, we explored the effects and actions of TUDCA on renal fibrosis by establishing a renal mesangial cell (RMC) model. The RMC was stimulated with TGF-ß1, and PCR and western blotting were used to detect the expression of ERS-related chaperone proteins and fibrotic indicators. The expression of glucose-regulated protein 78 (GRP78) was silenced in RMC cells to investigate the role of GRP78 in renal fibrosis. Finally, PCR and western blotting were used to detect the effects of TUDCA on the expression of GRP78, C/EBP homologous protein (CHOP), α-smooth muscle actin (α-SMA), and fibronectin (FN) in the TGF-ß1-stimulated RMCs. The results showed that TUDCA significantly downregulated TGF-ß1-induced levels of GRP78, CHOP, α-SMA and FN in RMCs. In addition, downregulation of GRP78 inhibited the expression of FN and α-SMA in the RMCs. In conclusion, downregulation of GRP78 and CHOP expression is one of the mechanisms by which TUDCA inhibits TGF-ß1-induced renal mesangial cell fibrosis.

Refractory hypercalcemia due to an ectopic mediastinal parathyroid gland in a hemodialysis patient: a case report.

BACKGROUND: Hypercalcemia crisis is a complex disorder rarely induced by tertiary hyperparathyroidism, which clinically presents as nonsuppressible parathyroid hyperplasia with persistent increased PTH levels and hypercalcemia. It is one of the major risk factors of morbidity and mortality in end-stage renal disease. Parathyroidectomy should be in consideration in dialysis patients with severe hyperparathyroidism who are refractory to medical therapy. The implications and consequences of it, however, are not fully understood. CASE PRESENTATION: We present a case of a 70 year-old man disturbed by gastrointestinal manifestations due to hypercalcaemic crisis. The patient had longstanding hypercalcaemia and hyperparathyrodism refractory to calcimimetics, calcitonin, hormone and haemodialysis. A ectopic parathyroid gland in anterior mediastinum was found and elucidated by Tc-99 m scan. Futhermore, a video-assisted thoracoscopic parathyroidectomy was performed. Histologically, the tumour consisted of densely arranged chief cells immunohistochemically positive for PTH antigens. Consequently, calcium and parathormone were declining stably without any complications. CONCLUSIONS: On account of refractory hypercalcemia and hyperparathyroidism, radionuclide scanning is useful in the diagnosis of ectopic parathyroid gland. it is of great significance for multidisciplinary therapy combing anesthesia, surgical, endocrinology and nephrology staff.

Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.

OBJECTIVES: By analyzing the different phenotypes of two Chinese DFNA9 families with the same mutation located in the intervening region between the LCCL and vWFA domains of cochlin and testing the functional changes in the mutant cochlin, we investigated the different pathogeneses for mutations in LCCL and vWFA domains. METHODS: Targeted next-generation sequencing for deafness-related genes was used to identify the mutation in the proband in family #208. The probands of family #208 and family #32 with the same p.C162Y mutation were followed for more than 3 years to evaluate the progression of hearing loss and vestibular dysfunction using pure-tone audiometry, caloric testing, electrocochleogram, vestibular-evoked myogenic potential, and video head-impulse test. The disruption of normal cleavage to produce secreted LCCL domain fragments and the tendency to form aggregations of mutant cochlins were tested by in vitro cell experiments. RESULTS: The two families showed different clinical symptoms. Family #32 was identified as having early-onset, progressive sensorineural hearing loss, similar to the symptoms in DFNA9 patients with cochlin mutations in the vWFA domain. The proband of family #208 endured late-onset recurrent paroxysmal vertigo attacks and progressively deteriorating hearing, similar to symptoms in those with cochlin mutations in the LCCL domain. We therefore suggest that the disrupted cleavage of the LCCL domain fragment is likely to cause vestibular dysfunction, and aggregation of mutant cochlin caused by mutations in the vWFA domain is responsible for early-onset hearing loss. The p.C162Y mutation causes either disruption of LCCL domain fragment cleavage or aggregation of mutant cochlin, resulting in the different phenotypes in the two families. CONCLUSION: This study demonstrates that DFNA9 families with the same genotype may have significantly different phenotypes. The mutation site in cochlin is related to the pathological mechanism underlying the different phenotypes.