Objective:To analyze the clinical efficacy and safety of carglumic acid in the treatment of neonatal hyperammonemia caused by organic acidemia.Methods:A case summary was made.Six cases of neonatal hyperammonemia caused by organic acidemia treated at the Neonatal Intensive Care Unit of Henan Children′s Hospital from March to September in 2024 were included.They received comprehensive ammonia-lowering treatment in combination with oral carglumic acid dispersible tablets.The clinical data of the children were collected and analyzed retrospectively.Changes in blood ammonia levels, blood gas parameters, and complete blood count before and after treatment with carglumic acid were analyzed using the Wilcoxon test.The incidence of adverse reactions and clinical regression during the treatment with carglumic acid was observed.Results:There were 2 females and 4 males in the 6 patients included.Four children suffered from isolated methylmalonic acidemia caused by MUT gene mutations, and the other 2 had propionic acidemia.The clinical manifestations were poor breastfeeding in 6 cases, vomiting in 2 cases, poor response in 6 cases, weight loss in 6 cases, and convulsions in 3 cases.Acute metabolic decompensation abnormalities were presented in all children, such as metabolic acidosis, hyperammonemia, leukopenia and thrombocytopenia.The first dose of carglumic acid was 62-255 mg/kg, the second dose was 75-172 mg/kg.The blood ammonia level decreased from 411.7 (339.7, 623.8) μmol/L before treatment to 108.1 (35.5, 229.1) μmol/L after 48 hours of treatment, showing a statistically significant reduction ( Z=2.20, P<0.05).Three cases with a blood ammonia level higher than 400 μmol/L, it was effectively reduced after treatment with carglumic acid.Two cases did not undergo hemodialysis or peritoneal dialysis.One case underwent hemodialysis but died after withdrawing the treatment.After administration of carglumic acid, metabolic acidosis was corrected in all children, and 2 patients ultimately died after discontinuing the treatment.No causal relationship was identified between adverse events and carglumic acid treatment.The examinations at discharge and during the follow-up period (2-7 months) showed that most laboratory abnormalities (including leukopenia, anemia, thrombocytopenia, hyperlactatemia, hyponatremia, hyperkalemia, elevated myocardial enzymes, and hyperbilirubinemia) returned to normal. Conclusions:Carglumic acid can effectively reduce neonatal hyperammonemia caused by organic academia, improve metabolic disorders, and reduce the need for blood purification or peritoneal dialysis, with good safety.

Objective:To analyze the clinical efficacy and safety of carglumic acid in the treatment of neonatal hyperammonemia caused by organic acidemia.Methods:A case summary was made.Six cases of neonatal hyperammonemia caused by organic acidemia treated at the Neonatal Intensive Care Unit of Henan Children′s Hospital from March to September in 2024 were included.They received comprehensive ammonia-lowering treatment in combination with oral carglumic acid dispersible tablets.The clinical data of the children were collected and analyzed retrospectively.Changes in blood ammonia levels, blood gas parameters, and complete blood count before and after treatment with carglumic acid were analyzed using the Wilcoxon test.The incidence of adverse reactions and clinical regression during the treatment with carglumic acid was observed.Results:There were 2 females and 4 males in the 6 patients included.Four children suffered from isolated methylmalonic acidemia caused by MUT gene mutations, and the other 2 had propionic acidemia.The clinical manifestations were poor breastfeeding in 6 cases, vomiting in 2 cases, poor response in 6 cases, weight loss in 6 cases, and convulsions in 3 cases.Acute metabolic decompensation abnormalities were presented in all children, such as metabolic acidosis, hyperammonemia, leukopenia and thrombocytopenia.The first dose of carglumic acid was 62-255 mg/kg, the second dose was 75-172 mg/kg.The blood ammonia level decreased from 411.7 (339.7, 623.8) μmol/L before treatment to 108.1 (35.5, 229.1) μmol/L after 48 hours of treatment, showing a statistically significant reduction ( Z=2.20, P<0.05).Three cases with a blood ammonia level higher than 400 μmol/L, it was effectively reduced after treatment with carglumic acid.Two cases did not undergo hemodialysis or peritoneal dialysis.One case underwent hemodialysis but died after withdrawing the treatment.After administration of carglumic acid, metabolic acidosis was corrected in all children, and 2 patients ultimately died after discontinuing the treatment.No causal relationship was identified between adverse events and carglumic acid treatment.The examinations at discharge and during the follow-up period (2-7 months) showed that most laboratory abnormalities (including leukopenia, anemia, thrombocytopenia, hyperlactatemia, hyponatremia, hyperkalemia, elevated myocardial enzymes, and hyperbilirubinemia) returned to normal. Conclusions:Carglumic acid can effectively reduce neonatal hyperammonemia caused by organic academia, improve metabolic disorders, and reduce the need for blood purification or peritoneal dialysis, with good safety.

Objective:To investigate the clinical characteristics and offer diagnostic and therapeutic approaches for adult-onset idiopathic hypogonadotropic hypogonadism(AIHH).Methods:Clinical, laboratory, and imaging data, as well as follow-up information, of three male patients diagnosed with AIHH at the Department of Endocrinology and Metabolism of Nanfang Hospital, Southern Medical University, were systematically reviewed and analyzed.Results:All three patients were male, with a median age of 39 years(range, 22 to 40). Two patients reported symptoms of enlarged breasts and reduced sexual function, while one case solely reported a decline in sexual function. Physical examination showed that the median length of the penis was 6 cm(range, 5 to 6 cm), and the bilateral testicular volume was 7.96 mL(4.70-8.82 mL). Basal hormone levels at the time of initial visit to our hospital as follows: the median testosterone level was 0.32 ng/mL(0.24-2.96 ng/mL), median follicle stimulating hormone(FSH) level was 0.56 mIU/mL(0.1-0.75 mIU/mL), and the median luteinizing hormone(LH) level was 0.69 mIU/mL(0.1-1.03 mIU/mL). The levels of other hormones secreted by the anterior pituitary gland were normal. Hypothalamic-pituitary magnetic resonance imaging(MRI) showed that 1 patient had a pituitary microadenoma. Three patients were treated with pulsatile GnRH or gonadotropins, one of which had hypothalamic-pituitary-gonadal(HPG) axis function reversal after GnRH pulse pump therapy and lasted for 1 year, but then still had irreversible reduction.Conclusion:AIHH is marked by adult-onset disease and idiopathic hypogonadism. Enhancing fertility remains a critical requirement for these patients. Pulsatile GnRH treatment or gonadotropin therapy, as viable treatments, exhibit therapeutic effects, albeit with occasional fluctuations. Therefore, the emphasis lies in the timely consideration of fertility preservation.

Myopia is becoming more and more common all over the world, and the incidence of myopia is gradually increasing. Many treatments have been used to prevent and control myopia, including optics, drugs, environment or behavior, but the results are different and lack standardization. At present, many experiments have proved that peripheral defocus technology has a certain effect on myopia control. Based on this technology, three kinds of framed eyeglass lenses with peripheral defocus design, namely defocus incorporated multiple segments(DIMS), highly aspherical lenslets(HAL)and cylindrical annular reactive elements(CARE), are commonly used in medical and optometry institutions in China. These lenses provide not only clear vision in the central area, but also a certain amount of myopic defocus in the periphery to control the progression of myopia. This paper aims to focus on the design principle and myopia prevention and control effect of the above three peripheral defocus lenses, and evaluate their effectiveness in clinical practice.

Complete androgen insensitivity syndrome(CAIS) is characterized by lack of androgen response in target organs due to androgen receptor dysfunction, resulting in feminized external genitalia. Individuals with CAIS are typically advised to live as females. This article reports a patient diagnosed with CAIS and gender dysphoria in adulthood. Following the removal of a left pelvic mass, pathology indicated cryptorchidism with a concurrent Leydig cell tumor. Genetic testing revealed a deletion mutation in exon 3 of androgen receptor gene. During follow-up, the patient underwent gender reassignment, transitioning socially from female to male. This case provides new insights into gender allocation for CAIS patients.

Liver function can reflect the severity of cirrhosis,and has important clinical value for disease monitoring,efficacy evaluation and surgical risk prediction.At present,the methods commonly used in clinical evaluation of liver function include blood biochemical examination,drug excretion test,comprehensive scoring system and routine imaging examination.All these methods have their limitations.Gd-EOB-DTPA is a hepatocellular specific contrast agent,which is taken up and excreted by liver cells and can directly reflect liver function.Therefore,it is expected to achieve non-invasive segental quantitative evaluation of liver function through enhanced MRI of Gd-EOB-DTPA,which is the focus of current research.In this paper,the methods of Gd-EOB-DTPA enhanced MRI for liver function assessment were reviewed,and the feasibility of Gd-EOB-DTPA in liver function assessment was discussed.

Sino-foreign cooperative education not only introduces foreign teachers and curriculums, but also brings new teaching concepts, teaching methods, and the training of teachers. With the example of rehabilitation treatment in the national first-class undergraduate specialty construction site of Nanjing University of Chinese Medicine, this study discusses the talent training mode of Sino-foreign cooperative education from the five aspects of professional system, discipline characteristics, curriculum system, teaching methods, and evaluation methods. The mode of Sino-foreign cooperative education provides a reference for the development of modern rehabilitation higher education.

Objective To determine the correlation between intravoxel incoherent motion (IVIM) parameters and both histologic inflammatory and fibrotic grades of Crohn disease (CD) in adults. Methods Prospectively, 17 patients (77 lesions) with a clinical and pathological diagnosis of CD in the first affiliated hospital of sun yat-sen university from July 2015 to June 2016 underwent MRE 15 days before surgery. All patients underwent T2WI, IVIM and enhanced MRI and calculated IVIM parameters include diffusion-related coefficient (D), perfusion-related coefficient (D*) and perfusion-related fraction (f). Histological intestinal inflammation and fibrosis was scored using the surgical histopathology as reference standard and further divided into mild-moderate (score 1 to 2) and severe (score 3 to 4) groups. Intestinal microvessel density (MVD) were also analyzed. Differences in IVIM parameters among different histological inflammation and fibrosis grades were assessed with the Kruskal-Wallis test. The Wilcoxon test was used for assessing differences in f between mild-moderate and severe fibrosis. The bivariate correlations between IVIM parameters and histological inflammation and fibrosis grades were analyzed using partial correlation . The bivariate correlations between IVIM parameters and MVD were analyzed using Spearman rank correlation. The areas under the receiver operating characteristics curves (AUROC) were analyzed to evaluate the efficacy for distinguishing severe from mild-moderate fibrosis. Results Of 77 surgical specimens, there were 41 mild-moderate and 36 severe inflammatory bowel segments, along with 22 mild-moderate and 55 severe fibrotic bowel segments. Positive correlation was shown between histologic inflammatory and fibrotic scores (r=0.592, P<0.01). MVD (42.7 ± 39.9)/HP presented weak positive correlation with histologic inflammatory scores (r=0.332, P=0.003) while no correlation with histologic fibrotic scores (r=0.129, P=0.262) was presented. Neither the D nor the D* values significantly correlated with histologic inflammation or fibrosis (P>0.05) while the f value significantly correlated with both histologic inflammation and fibrosis (P<0.05). Significant correlation was present between the f value and histologic inflammatory and fibrotic scores, respectively (r=-0.280, -0.520;P<0.05). There was significant difference in the f value between mild-moderate and severe fibrosis(Z=-5.255,P<0.01). The AUROC for the f value to distinguish between patients with mild-moderate fibrosis and severe fibrosis were 0.885. Using a threshold fractional perfusion of 0.33, the sensitivity and specificity values were 95.5％ and 81.8％, respectively. No correlation between f, D and D*value with histologic fibrotic scores (r=0.129, P=0.262) was presented. Conclusion The f value derived from IVIM could help to evaluate the severity of intestinal inflammation and fibrosis CD in adults.

Objective To study the use of the international speech test signal(ISTS) on acceptable noise level (ANL)test in Mandarin adults.Methods The Mandarin test materials and ISTS were used as test materials.The ANL test was performed on 40 normal hearing adults.For each case,the most comfortable loudness(MCL)and background noise level(BNL)were obtained.MCL minus BNL equal to ANL.Results The values of ANL under the Mandarin test materials and ISTS test materials were 39.31±6.97 and 41.85±7.60 dB HL,respectively.The values of BNL were 37.59±8.45 and 39.27±8.66 dB HL,respectively.The values of ANL were 1.53±5.61 and 2.45±5.58 dB,respectively in 40 normal hearing adults.There was no significant difference in the MCL,BNL and ANL between the test materials of Mandarin and ISTS (P＞ 0.05).Conclusion International speech test signal (ISTS) can be used on ANL test in Mandarin adults with normal hearing.

OBJECTIVE: To investigate the abnormalities in regional homogeneity of brain activity in patients with diabetic peripheral neuropathy (DPN) using resting-state functional magnetic resonance imaging (rs-fMRI) and explore the association between brain activity changes and DPN. METHODS: A regional homogeneity (ReHo) approach was used to compare the local synchronization of rs-fMRI signals among 20 patients with painful DPN, 16 patients with painless DPN, and 16 type 2 diabetic patients without DPN (non-DPN group). RESULTS: Compared with the those without DPN, the patients with painful DPN showed high ReHo in the left inferior temporal gyrus and the right central posterior gyrus, and low ReHo in the posterior cingulate gyrus, right inferior parietal gyrus, and the left superior parietal gyrus ( < 0.05);the patients with painless DPN group showed high ReHo in the left inferior temporal gyrus, the right middle temporal gyrus, and the right superior frontal gyrus, and low ReHo in the left thalamus ( < 0.05).No significant differences in ReHo were found between the patients with painful DPN and painless DPN (>0.05). CONCLUSIONS The patients with DPN have altered ReHo in multiple brain regions and impairment of a default mode network, for which the left temporal gyrus may serve as a functional compensatory brain area. ReHo disturbance in the central right posterior gyrus may play a central role in the pain symptoms associated with painful DPN.
Brain ; diagnostic imaging ; physiopathology ; Brain Mapping ; methods ; Diabetic Neuropathies ; physiopathology ; Gyrus Cinguli ; diagnostic imaging ; physiopathology ; Humans ; Magnetic Resonance Imaging ; methods ; Neuralgia ; physiopathology ; Temporal Lobe ; diagnostic imaging ; physiopathology