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We found a sporadic case of mental retardation associated with short stature and constipation. We investigated the possible genetic origin of the syndrome. Clinical and biochemical investigations were conducted. Exome sequencing was used to search for pathogenic variations. A de novo mutation (c.1183G>T, p.E395X) was found in one allele of the THRA gene. The mutation creates a stop codon, which eliminates the C-terminal helix of the TR α 1 receptor for thyroid hormone. The patient has typical symptoms for the resistance to thyroid hormone α (RTH α) genetic disease, but has a normal head circumference. There are now 21 known mutations in THRA. All mutations that alter the C-terminal helix of TR α 1 lead to severe forms of RTH α. [ABSTRACT FROM AUTHOR]

The objective of this study was to explore the presentation and management of hypertension secondary to Takayasu arteritis (TA) in a large cohort, single center in China. We retrospectively analyzed 381 TA patients with hypertension hospitalized in Fuwai hospital between Jan. 2004 and Feb. 2014. Diagnosis of hypertension was according to clinic blood pressure or the central blood pressure measured during angiography. Renal artery stenosis was the most common cause (264, 69.3%), followed by the thoracic descending aorta stenosis (98, 25.7%), abdominal aorta stenosis (78, 20.5%), and severe aortic regurgitation (45, 11.8%). More than two kinds of pathologies were found in 98 (25.7%) patients. The mean age of hypertension onset was 25.0 ± 14.3 years. The mean blood pressure of upper extremity in patients without bilateral subclavian artery stenosis (321, 84.3%) was 176.0 ± 29.4 mmHg/97.2 ± 23.0 mmHg, while in 60 (15.7%) patients with bilateral subclavian artery stenosis, the mean central blood pressure was 192.7 ± 30.8 mmHg/102.4 ± 121.1 mmHg. A total of 305 were followed for 38.4 ± 36.7 months, and the rate of blood pressure control, improvement, and failure was 50.8, 41.0, and 8.2%, respectively. Immunosuppressive therapy (OR 2.402, 95% confidence interval 1.253-4.603, P = 0.008) and the pathogenesis of hypertension (P = 0.010) were associated with prognosis of hypertension. The pathogenesis of hypertension due to TA is very complex and multifactorial. Renal artery stenosis is most frequently observed, followed by stenosis of the thoracic descending aorta, abdominal aorta, and severe aortic regurgitation. Immunosuppressive therapy and identifying the pathogenesis of hypertension is of great importance in patients with TA. [ABSTRACT FROM AUTHOR]

Neonatal diabetes mellitus (NDM) is a rare monogenic disorder presenting as uncontrolled hyperglycemia during the first 6 months of life. Hyperglycemic hyperosmolar state (HHS) is quite rare in NDM patients, and reported experience with this condition is limited. Continuous renal replacement therapy (CRRT) is frequently used as a mode of dialytic treatment in critically ill patients with acute renal failure, but has seldom been used in patients with diabetic ketoacidosis (DKA) and HHS. We report the case of a 2-month-old infant admitted to our hospital presenting with dyspnea and lethargy. Blood gas showed severe hyperosmotic DKA. After 21 h of fluid and insulin therapy, the baby presented with increased drowsiness and irregular respiration, which suggested cerebral edema. Moreover, the DKA and HHS were exacerbated. After 18 h of CRRT, the patient gradually recovered from DKA and HHS. The gene analysis revealed a de novo mutation (c.602G > A (p.R201H)) of the KCNJ11 gene, and oral glibenclamide successfully replaced insulin treatment in the patient. [ABSTRACT FROM AUTHOR]

A complete description of the optical path difference of a novel spectral zooming imaging spectrometer (SZIS) is presented. SZIS is designed based on two identical Wollaston prisms with an adjustable air gap. Thus, interferogram with arbitrary spectral resolution and great reduction of spectral image size can be conveniently formed to adapt to different application requirements. Ray tracing modeling in arbitrary incidence with a quasi-parallel-plate approximation scheme is proposed to analyze the optical path difference of SZIS. In order to know the characteristics of the apparatus, exact calculations of the corresponding spectral resolution and field of view are both derived and analyzed in detail. We also present a comparison of calculation and experiment to prove the validity of the theory. [ABSTRACT FROM AUTHOR]

• The rust layer characteristics of steel pipes are analyzed after 25-year service. • The corrosion mechanism of corroded steel pipes is elucidated after 25-year service. • The corrosion model of corroded steel pipes is assessed after long-term corrosion. • Thickness loss and max pit depth have profound effects on mechanical properties. Since the period required for testing the atmospheric corrosion of steel is long, most studies have focused on the corrosion behavior in less than three years, making exploring long-term atmospheric corrosion particularly valuable. This study investigates the corrosion behaviors, corrosion models, and mechanical properties of Q235 welded steel pipes collapsing due to corrosion after 25-year service in an urban industrial atmospheric environment using SEM, XRD, electrochemical methods, 3-D noncontact surface profilometry, and static tensile testing. The typical morphologies of α-FeOOH, γ-FeOOH, and Fe 3 O 4 and the effect of the content of various corrosive materials on the corrosion rate of the steel pipes are identified and analyzed. Then, the influence of different corrosion degrees on the mechanical properties of the steel pipes is examined by considering the morphologies of the rust pits. The results show that the wetting–drying cycles affect the structures of the rust layers and their protective properties. The rust layers on the sheltered surface are thicker but less protective than those on the exposed surface. In the wet state, FeSO 4 accelerates ion transfer, while Fe 3 O 4 facilitates electron transfer. These processes collectively contribute to the corrosion of Q235 steel. Moreover, as the time-of-wetness of the rust layers on sheltered specimens increases, the corrosion rate of Q235 steel also accelerates. The corrosion model combines pitting and uniform corrosion and gradually changes from predominated by pitting to thickness as the corrosion degree increases. The corrosion morphology impacts the mechanical properties of the welded steel pipes, and the influences of the thickness loss and maximum rust pit depth on these properties are profound. [ABSTRACT FROM AUTHOR]

Study Objective To investigate the potential of serum anti-Müllerian hormone (AMH) and inhibin B (INHB) levels as markers for pubertal progression rate in girls with central precocious puberty (CPP). Design, Setting, Participants, Interventions, and Main Outcome Measures A total of 148 girls were enrolled, including 65 girls with premature thelarche and 83 girls with CPP, grouped on the basis of the results of gonadotropin-releasing hormone stimulation tests. Girls with CPP underwent a 6-month follow-up, and were further divided into 2 subgroups: the progressive CPP (P-CPP) group (n = 55) and the slowly P-CPP (SP-CPP) group (n = 28). Serum AMH and INHB levels were assessed in all enrolled girls. Using receiver operating characteristic curves, we analyzed the diagnostic performance of AMH and INHB to differentiate the 2 forms of CPP. Results Our data showed that AMH and INHB offer the potential to act as markers that distinguish SP-CPP from P-CPP. Compared with the SP-CPP group, girls with P-CPP showed lower AMH levels and higher INHB levels. On the basis of the receiver operating characteristics analysis, the area under the curve was 0.92 for the combination of AMH and INHB, with 80% sensitivity and 89.3% specificity. Conclusion Our results suggest that serum AMH and INHB levels provide a promising method in differentiating SP-CPP from P-CPP. [ABSTRACT FROM AUTHOR]

Purpose: Currently, almost all adrenal venous sampling (AVS) procedures are performed by femoral vein access. The purpose of this study was to establish the technique of AVS via an antecubital approach and evaluate its safety and feasibility.Materials and Methods: From January 2012 to June 2015, 194 consecutive patients diagnosed as primary aldosteronism underwent AVS via an antecubital approach without ACTH simulation. Catheters used for bilateral adrenal cannulations were recorded. The success rate of bilateral adrenal sampling, operation time, fluoroscopy time, dosage of contrast, and incidence of complications were calculated.Results: A 5F MPA1 catheter was first used to attempt right adrenal cannulation in all patients. Cannulation of the right adrenal vein was successfully performed in 164 (84.5%) patients. The 5F JR5, Cobra2, and TIG catheters were the ultimate catheters for right adrenal cannulation in 16 (8.2%), 5 (2.6%), and 9 (4.6%) patients, respectively. For left adrenal cannulation, JR5 and Cobra2 catheters were used in 19 (9.8%) and 10 (5.2%) patients, respectively, while only TIG catheters were used in the remaining 165 (85.1%) patients. The rate of successful adrenal sampling on the right, left, and bilateral sides was 91.8%, 93.3%, and 87.6%, respectively. The mean time of operation was (16.3 ± 4.3) minutes, mean fluoroscopy time was (4.7 ± 1.3) minutes, and the mean use of contrast was (14.3 ± 4.7) ml. The incidence of adrenal hematoma was 1.0%.Conclusions: This study showed that AVS via an antecubital approach was safe and feasible, with a high rate of successful sampling. [ABSTRACT FROM AUTHOR]